Daniel Geschwind, M.D., Ph.D.

Awards and Honors

• Paul G. Allen Foundation Distinguished Investigator Award, 2015.
• Harold Brenner Pepinsky Early Career Award in Neurobehavioral Science, Ohio State University, 2006.
• Scientific Service Award, Autism Speaks, 2008.
• Election to both American Academy of Physicians and National Academy of Medicine.
• Derek Denny Brown Neurology Scholar Award, American Neurological Association, 2004.
• MERIT (Method to Extend Research in Time) Award, NIMH, 2006-2015.
• Wiersma Visiting Professor, California Institute of Technology, 2012.
• Highly cited researchers (H > 150).
• Gold Medal Award, Society of Biological Psychiatry (SOBP), 2021.
• Kavli Distinguished Visiting Professor, University of California, San Diego, 2007.
• Frontier Award.
• Alpha Phi Omega Medical Honor Society, Yale University, 1991.
• 2022 Cotzias Lecture and Award, the American Academy of Neurology, 2022.
• Multiple Presidential and named plenary lectures and visiting professorships.
• McDonnell-Pew Foundation Award in Cognitive Neuroscience.
• 2022 Rhoda and Bernard Sarnat International Prize in Mental Health, National Academy of Medicine, 2022.

Publications

• Cirnigliaro M, Chang TS, Arteaga SA, Pérez-Cano L, Ruzzo EK, Gordon A, Bicks LK, Jung JY, Lowe JK, Wall DP, Geschwind DH. The contributions of rare inherited and polygenic risk to ASD in multiplex families.. Proceedings of the National Academy of Sciences of the United States of America, 2023.
• Kumar A, Karuppagounder SS, Chen Y, Corona C, Kawaguchi R, Cheng Y, Balkaya M, Sagdullaev BT, Wen Z, Stuart C, Cho S, Ming GL, Tuvikene J, Timmusk T, Geschwind DH, Ratan RR. 2-Deoxyglucose drives plasticity via an adaptive ER stress-ATF4 pathway and elicits stroke recovery and Alzheimer's resilience.. Neuron, 2023.
• Bertucci T, Bowles KR, Lotz S, Qi L, Stevens K, Goderie SK, Borden S, Oja LM, Lane K, Lotz R, Lotz H, Chowdhury R, Joy S, Arduini BL, Butler DC, Miller M, Baron H, Sandhof CA, Silva MC, Haggarty SJ, Karch CM, Geschwind DH, Goate AM, Temple S. Improved Protocol for Reproducible Human Cortical Organoids Reveals Early Alterations in Metabolism with MAPT Mutations.. bioRxiv : the preprint server for biology, 2023.
• Zhang L, Flagan TM, Häkkinen S, Chu SA, Brown JA, Lee AJ, Pasquini L, Mandelli ML, Gorno-Tempini ML, Sturm VE, Yokoyama JS, Appleby BS, Cobigo Y, Dickerson BC, Domoto-Reilly K, Geschwind DH, Ghoshal N, Graff-Radford NR, Grossman M, Hsiung GR, Huey ED, Kantarci K, Lario Lago A, Litvan I, Mackenzie IR, Mendez MF, Onyike CU, Ramos EM, Roberson ED, Tartaglia MC, Toga AW, Weintraub S, Wszolek ZK, Forsberg LK, Heuer HW, Boeve BF, Boxer AL, Rosen HJ, Miller BL, Seeley WW, Lee SE, ARTFL/LEFFTDS/ALLFTD Consortia. Network connectivity alterations across the MAPT mutation clinical spectrum.. Annals of neurology, 2023.
• Cheah M, Cheng Y, Petrova V, Cimpean A, Jendelova P, Swarup V, Woolf CJ, Geschwind DH, Fawcett JW. Integrin-Driven Axon Regeneration in the Spinal Cord Activates a Distinctive CNS Regeneration Program.. The Journal of neuroscience : the official journal of the Society for Neuroscience, 2023.
• Depp C, Sun T, Sasmita AO, Spieth L, Berghoff SA, Nazarenko T, Overhoff K, Steixner-Kumar AA, Subramanian S, Arinrad S, Ruhwedel T, Möbius W, Göbbels S, Saher G, Werner HB, Damkou A, Zampar S, Wirths O, Thalmann M, Simons M, Saito T, Saido T, Krueger-Burg D, Kawaguchi R, Willem M, Haass C, Geschwind D, Ehrenreich H, Stassart R, Nave KA. Myelin dysfunction drives amyloid-β deposition in models of Alzheimer's disease.. Nature, 2023.
• Constantino JN, Abbacchi AM, May BK, Klaiman C, Zhang Y, Lowe JK, Marrus N, Klin A, Geschwind DH. Prospects for Leveling the Playing Field for Black Children With Autism.. Journal of the American Academy of Child and Adolescent Psychiatry, 2023.
• Guo Q, Wu S, Geschwind DH. Characterization of gene regulatory elements in human fetal cortical development: Enhancing our understanding of neurodevelopmental disorders and evolution.. Developmental neuroscience, 2023.
• Duy PQ, Rakic P, Alper SL, Robert SM, Kundishora AJ, Butler WE, Walsh CA, Sestan N, Geschwind DH, Jin SC, Kahle KT. A neural stem cell paradigm of pediatric hydrocephalus.. Cerebral cortex (New York, N.Y. : 1991), 2023.
• Friedberg A, Pasquini L, Diggs R, Glaubitz EA, Lopez L, Illán-Gala I, Iaccarino L, La Joie R, Mundada N, Knudtson M, Neylan K, Brown J, Allen IE, Rankin KP, Bonham LW, Yokoyama JS, Ramos EM, Geschwind DH, Spina S, Grinberg LT, Miller ZA, Kramer JH, Rosen H, Gorno-Tempini ML, Rabinovici G, Seeley WW, Miller BL. Prevalence, Timing, and Network Localization of Emergent Visual Creativity in Frontotemporal Dementia.. JAMA neurology, 2023.
• Wimalasena NK, Taub DG, Shim J, Hakim S, Kawaguchi R, Chen L, El-Rifai M, Geschwind DH, Dib-Hajj SD, Waxman SG, Woolf CJ. Nav1.7 gain-of-function mutation I228M triggers age-dependent nociceptive insensitivity and C-LTMR dysregulation.. Experimental neurology, 2023.
• Wamsley B, Bicks L, Cheng Y, Kawaguchi R, Quintero D, Grundman J, Liu J, Xiao S, Hawken N, Margolis M, Mazariegos S, Geschwind DH. Molecular cascades and cell-type specific signatures in ASD revealed by single cell genomics.. bioRxiv : the preprint server for biology, 2023.
• Bicks LK, Eyring KW, Geschwind DH. Neuronal protein interaction networks in autism spectrum disorder.. Cell genomics, 2023.
• Wen C, Margolis M, Dai R, Zhang P, Przytycki PF, Vo DD, Bhattacharya A, Kim M, Matoba N, Tsai E, Hoh C, Jiao C, Aygun N, Walker RL, Chatzinakos C, Clarke D, Pratt H, PsychENCODE Consortium, Peters MA, Gerstein M, Daskalakis NP, Weng Z, Jaffe AE, Kleinman JE, Hyde TM, Weinberger DR, Bray NJ, Sestan N, Geschwind DH, Roeder K, Gusev A, Pasaniuc B, Stein JL, Love MI, Pollard KS, Liu C, Gandal MJ. Cross-ancestry, cell-type-informed atlas of gene, isoform, and splicing regulation in the developing human brain.. medRxiv : the preprint server for health sciences, 2023.
• Libster N, Knox A, Engin S, Geschwind D, Parish-Morris J, Kasari C. Sex differences in friendships and loneliness in autistic and non-autistic children across development.. Molecular autism, 2023.
• Sánchez XC, Montalbano S, Vaez M, Krebs MD, Byberg-Grauholm J, Mortensen PB, Børglum AD, Hougaard DM, Nordentoft M, Geschwind DH, Buil A, Schork AJ, Thompson WK, Raznahan A, Helenius D, Werge T, Ingason A. Associations of psychiatric disorders with sex chromosome aneuploidies in the Danish iPSYCH2015 dataset: a case-cohort study.. The lancet. Psychiatry, 2023.
• Tian F, Cheng Y, Zhou S, Wang Q, Monavarfeshani A, Gao K, Jiang W, Kawaguchi R, Wang Q, Tang M, Donahue R, Meng H, Zhang Y, Jacobi A, Yan W, Yin J, Cai X, Yang Z, Hegarty S, Stanicka J, Dmitriev P, Taub D, Zhu J, Woolf CJ, Sanes JR, Geschwind DH, He Z. Core transcription programs controlling injury-induced neurodegeneration of retinal ganglion cells.. Neuron, 2023.
• Lafferty MJ, Aygün N, Patel NK, Krupa O, Liang D, Wolter JM, Geschwind DH, de la Torre-Ubieta L, Stein JL. MicroRNA-eQTLs in the developing human neocortex link miR-4707-3p expression to brain size.. eLife, 2023.
• Johnson R, Ding Y, Bhattacharya A, Knyazev S, Chiu A, Lajonchere C, Geschwind DH, Pasaniuc B. The UCLA ATLAS Community Health Initiative: Promoting precision health research in a diverse biobank.. Cell genomics, 2023.
• Libster N, Knox A, Engin S, Geschwind D, Parish-Morris J, Kasari C. Personal victimization experiences of autistic and non-autistic children.. Molecular autism, 2022.
• Zhao XF, Huffman LD, Hafner H, Athaiya M, Finneran MC, Kalinski AL, Kohen R, Flynn C, Passino R, Johnson CN, Kohrman D, Kawaguchi R, Yang LJS, Twiss JL, Geschwind DH, Corfas G, Giger RJ. The injured sciatic nerve atlas (iSNAT), insights into the cellular and molecular basis of neural tissue degeneration and regeneration.. eLife, 2022.
• Hwang JL, Perloff OS, Gaus SE, Benitez C, Alquezar C, Cosme CQ, Nana AL, Vatsavayai SC, Ramos EM, Geschwind DH, Miller BL, Kao AW, Seeley WW. Tuberous sclerosis complex is associated with a novel human tauopathy.. Acta neuropathologica, 2022.
• Younes K, Borghesani V, Montembeault M, Spina S, Mandelli ML, Welch AE, Weis E, Callahan P, Elahi FM, Hua AY, Perry DC, Karydas A, Geschwind D, Huang E, Grinberg LT, Kramer JH, Boxer AL, Rabinovici GD, Rosen HJ, Seeley WW, Miller ZA, Miller BL, Sturm VE, Rankin KP, Gorno-Tempini ML. Right temporal degeneration and socioemotional semantics: semantic behavioural variant frontotemporal dementia.. Brain : a journal of neurology, 2022.
• Smucny J, Vlasova RM, Lesh TA, Rowland DJ, Wang G, Chaudhari AJ, Chen S, Iosif AM, Hogrefe CE, Bennett JL, Shumann CM, Van de Water JA, Maddock RJ, Styner MA, Geschwind DH, McAllister AK, Bauman MD, Carter CS. Increased Striatal Presynaptic Dopamine in a Nonhuman Primate Model of Maternal Immune Activation: A Longitudinal Neurodevelopmental Positron Emission Tomography Study With Implications for Schizophrenia.. Biological psychiatry. Cognitive neuroscience and neuroimaging, 2022.
• Johnson R, Ding Y, Venkateswaran V, Bhattacharya A, Boulier K, Chiu A, Knyazev S, Schwarz T, Freund M, Zhan L, Burch KS, Caggiano C, Hill B, Rakocz N, Balliu B, Denny CT, Sul JH, Zaitlen N, Arboleda VA, Halperin E, Sankararaman S, Butte MJ, UCLA Precision Health Data Discovery Repository Working Group, UCLA Precision Health ATLAS Working G, Lajonchere C, Geschwind DH, Pasaniuc B. Author Correction: Leveraging genomic diversity for discovery in an electronic health record linked biobank: the UCLA ATLAS Community Health Initiative.. Genome medicine, 2022.
• Jacokes Z, Jack A, Sullivan CAW, Aylward E, Bookheimer SY, Dapretto M, Bernier RA, Geschwind DH, Sukhodolsky DG, McPartland JC, Webb SJ, Torgerson CM, Eilbott J, Kenworthy L, Pelphrey KA, Van Horn JD, GENDAAR Consortium. Linear discriminant analysis of phenotypic data for classifying autism spectrum disorder by diagnosis and sex.. Frontiers in neuroscience, 2022.
• Butler-Laporte G, Povysil G, Kosmicki JA, Cirulli ET, Drivas T, Furini S, Saad C, Schmidt A, Olszewski P, Korotko U, Quinodoz M, Çelik E, Kundu K, Walter K, Jung J, Stockwell AD, Sloofman LG, Jordan DM, Thompson RC, Del Valle D, Simons N, Cheng E, Sebra R, Schadt EE, Kim-Schulze S, Gnjatic S, Merad M, Buxbaum JD, Beckmann ND, Charney AW, Przychodzen B, Chang T, Pottinger TD, Shang N, Brand F, Fava F, Mari F, Chwialkowska K, Niemira M, Pula S, Baillie JK, Stuckey A, Salas A, Bello X, Pardo-Seco J, Gómez-Carballa A, Rivero-Calle I, Martinón-Torres F, Ganna A, Karczewski KJ, Veerapen K, Bourgey M, Bourque G, Eveleigh RJ, Forgetta V, Morrison D, Langlais D, Lathrop M, Mooser V, Nakanishi T, Frithiof R, Hultström M, Lipcsey M, Marincevic-Zuniga Y, Nordlund J, Schiabor Barrett KM, Lee W, Bolze A, White S, Riffle S, Tanudjaja F, Sandoval E, Neveux I, Dabe S, Casadei N, Motameny S, Alaamery M, Massadeh S, Aljawini N, Almutairi MS, Arabi YM, Alqahtani SA, Al Harthi FS, Almutairi A, Alqubaishi F, Alotaibi S, Binowayn A, Alsolm EA, El Bardisy H, Fawzy M, Cai F, Soranzo N, Butterworth A, COVID-19 Host Genetics Initiative, DeCOI Host Genetics Group, GEN-COVID Multicenter Study (Italy), Mount Sinai Clinical Intelligence Center, GEN-COVID consortium (Spain), GenOMICC Consortium, Japan COVID-19 Task Force, Regeneron Genetics Center, Geschwind DH, Arteaga S, Stephens A, Butte MJ, Boutros PC, Yamaguchi TN, Tao S, Eng S, Sanders T, Tung PJ, Broudy ME, Pan Y, Gonzalez A, Chavan N, Johnson R, Pasaniuc B, Yaspan B, Smieszek S, Rivolta C, Bibert S, Bochud PY, Dabrowski M, Zawadzki P, Sypniewski M, Kaja E, Chariyavilaskul P, Nilaratanakul V, Hirankarn N, Shotelersuk V, Pongpanich M, Phokaew C, Chetruengchai W, Tokunaga K, Sugiyama M, Kawai Y, Hasegawa T, Naito T, Namkoong H, Edahiro R, Kimura A, Ogawa S, Kanai T, Fukunaga K, Okada Y, Imoto S, Miyano S, Mangul S, Abedalthagafi MS, Zeberg H, Grzymski JJ, Washington NL, Ossowski S, Ludwig KU, Schulte EC, Riess O, Moniuszko M, Kwasniewski M, Mbarek H, Ismail SI, Verma A, Goldstein DB, Kiryluk K, Renieri A, Ferreira MAR, Richards JB. Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative.. PLoS genetics, 2022.
• Gandal MJ, Haney JR, Wamsley B, Yap CX, Parhami S, Emani PS, Chang N, Chen GT, Hoftman GD, de Alba D, Ramaswami G, Hartl CL, Bhattacharya A, Luo C, Jin T, Wang D, Kawaguchi R, Quintero D, Ou J, Wu YE, Parikshak NN, Swarup V, Belgard TG, Gerstein M, Pasaniuc B, Geschwind DH. Broad transcriptomic dysregulation occurs across the cerebral cortex in ASD.. Nature, 2022.
• Cheng F, Geschwind D. Human Molecular Genetics Review Issue 2022.. Human molecular genetics, 2022.
• Cooper YA, Guo Q, Geschwind DH. Multiplexed functional genomic assays to decipher the noncoding genome.. Human molecular genetics, 2022.
• Noro T, Shah SH, Yin Y, Kawaguchi R, Yokota S, Chang KC, Madaan A, Sun C, Coppola G, Geschwind D, Benowitz LI, Goldberg JL. Elk-1 regulates retinal ganglion cell axon regeneration after injury.. Scientific reports, 2022.
• Muthukrishnan SD, Kawaguchi R, Nair P, Prasad R, Qin Y, Johnson M, Wang Q, VanderVeer-Harris N, Pham A, Alvarado AG, Condro MC, Gao F, Gau R, Castro MG, Lowenstein PR, Deb A, Hinman JD, Pajonk F, Burns TC, Goldman SA, Geschwind DH, Kornblum HI. P300 promotes tumor recurrence by regulating radiation-induced conversion of glioma stem cells to vascular-like cells.. Nature communications, 2022.
• Zhou W, Kanai M, Wu KH, Rasheed H, Tsuo K, Hirbo JB, Wang Y, Bhattacharya A, Zhao H, Namba S, Surakka I, Wolford BN, Lo Faro V, Lopera-Maya EA, Läll K, Favé MJ, Partanen JJ, Chapman SB, Karjalainen J, Kurki M, Maasha M, Brumpton BM, Chavan S, Chen TT, Daya M, Ding Y, Feng YA, Guare LA, Gignoux CR, Graham SE, Hornsby WE, Ingold N, Ismail SI, Johnson R, Laisk T, Lin K, Lv J, Millwood IY, Moreno-Grau S, Nam K, Palta P, Pandit A, Preuss MH, Saad C, Setia-Verma S, Thorsteinsdottir U, Uzunovic J, Verma A, Zawistowski M, Zhong X, Afifi N, Al-Dabhani KM, Al Thani A, Bradford Y, Campbell A, Crooks K, de Bock GH, Damrauer SM, Douville NJ, Finer S, Fritsche LG, Fthenou E, Gonzalez-Arroyo G, Griffiths CJ, Guo Y, Hunt KA, Ioannidis A, Jansonius NM, Konuma T, Lee MTM, Lopez-Pineda A, Matsuda Y, Marioni RE, Moatamed B, Nava-Aguilar MA, Numakura K, Patil S, Rafaels N, Richmond A, Rojas-Muñoz A, Shortt JA, Straub P, Tao R, Vanderwerff B, Vernekar M, Veturi Y, Barnes KC, Boezen M, Chen Z, Chen CY, Cho J, Smith GD, Finucane HK, Franke L, Gamazon ER, Ganna A, Gaunt TR, Ge T, Huang H, Huffman J, Katsanis N, Koskela JT, Lajonchere C, Law MH, Li L, Lindgren CM, Loos RJF, MacGregor S, Matsuda K, Olsen CM, Porteous DJ, Shavit JA, Snieder H, Takano T, Trembath RC, Vonk JM, Whiteman DC, Wicks SJ, Wijmenga C, Wright J, Zheng J, Zhou X, Awadalla P, Boehnke M, Bustamante CD, Cox NJ, Fatumo S, Geschwind DH, Hayward C, Hveem K, Kenny EE, Lee S, Lin YF, Mbarek H, Mägi R, Martin HC, Medland SE, Okada Y, Palotie AV, Pasaniuc B, Rader DJ, Ritchie MD, Sanna S, Smoller JW, Stefansson K, van Heel DA, Walters RG, Zöllner S, Biobank of the Americas, Biobank Japan Project, BioMe, BioVU, CanPath - Ontario Health Study, China Kadoorie Biobank Collaborative Group, Colorado Center for Personalized Medicine, deCODE Genetics, Estonian Biobank, FinnGen, Generation Scotland, Genes & Health Research Team, LifeLines, Mass General Brigham Biobank, Michigan Genomics Initiative, National Biobank of Korea, Penn Medicine BioBank, Qatar Biobank, QSkin Sun and Health Study, Taiwan Biobank, HUNT Study, UCLA ATLAS Community Health Initiative, Uganda Genome Resource, UK Biobank, Martin AR, Willer CJ, Daly MJ, Neale BM. Global Biobank Meta-analysis Initiative: Powering genetic discovery across human disease.. Cell genomics, 2022.
• Au NPB, Kumar G, Asthana P, Gao F, Kawaguchi R, Chang RCC, So KF, Hu Y, Geschwind DH, Coppola G, Ma CHE. Clinically relevant small-molecule promotes nerve repair and visual function recovery.. NPJ Regenerative medicine, 2022.
• Chen GT, Geschwind DH. Challenges and opportunities for precision medicine in neurodevelopmental disorders.. Advanced drug delivery reviews, 2022.
• Stackpole ML, Zeng W, Li S, Liu CC, Zhou Y, He S, Yeh A, Wang Z, Sun F, Li Q, Yuan Z, Yildirim A, Chen PJ, Winograd P, Tran B, Lee YT, Li PS, Noor Z, Yokomizo M, Ahuja P, Zhu Y, Tseng HR, Tomlinson JS, Garon E, French S, Magyar CE, Dry S, Lajonchere C, Geschwind D, Choi G, Saab S, Alber F, Wong WH, Dubinett SM, Aberle DR, Agopian V, Han SB, Ni X, Li W, Zhou XJ. Cost-effective methylome sequencing of cell-free DNA for accurately detecting and locating cancer.. Nature communications, 2022.
• Alvarado AG, Tessema K, Muthukrishnan SD, Sober M, Kawaguchi R, Laks DR, Bhaduri A, Swarup V, Nathanson DA, Geschwind DH, Goldman SA, Kornblum HI. Pathway-based approach reveals differential sensitivity to E2F1 inhibition in glioblastoma.. Cancer research communications, 2022.
• Staffaroni AM, Quintana M, Wendelberger B, Heuer HW, Russell LL, Cobigo Y, Wolf A, Goh SM, Petrucelli L, Gendron TF, Heller C, Clark AL, Taylor JC, Wise A, Ong E, Forsberg L, Brushaber D, Rojas JC, VandeVrede L, Ljubenkov P, Kramer J, Casaletto KB, Appleby B, Bordelon Y, Botha H, Dickerson BC, Domoto-Reilly K, Fields JA, Foroud T, Gavrilova R, Geschwind D, Ghoshal N, Goldman J, Graff-Radford J, Graff-Radford N, Grossman M, Hall MGH, Hsiung GY, Huey ED, Irwin D, Jones DT, Kantarci K, Kaufer D, Knopman D, Kremers W, Lago AL, Lapid MI, Litvan I, Lucente D, Mackenzie IR, Mendez MF, Mester C, Miller BL, Onyike CU, Rademakers R, Ramanan VK, Ramos EM, Rao M, Rascovsky K, Rankin KP, Roberson ED, Savica R, Tartaglia MC, Weintraub S, Wong B, Cash DM, Bouzigues A, Swift IJ, Peakman G, Bocchetta M, Todd EG, Convery RS, Rowe JB, Borroni B, Galimberti D, Tiraboschi P, Masellis M, Finger E, van Swieten JC, Seelaar H, Jiskoot LC, Sorbi S, Butler CR, Graff C, Gerhard A, Langheinrich T, Laforce R, Sanchez-Valle R, de Mendonça A, Moreno F, Synofzik M, Vandenberghe R, Ducharme S, Le Ber I, Levin J, Danek A, Otto M, Pasquier F, Santana I, Kornak J, Boeve BF, Rosen HJ, Rohrer JD, Boxer AL, Frontotemporal Dementia Prevention Initiative (FPI) Investigators. Temporal order of clinical and biomarker changes in familial frontotemporal dementia.. Nature medicine, 2022.
• Lin JP, Kelly HM, Song Y, Kawaguchi R, Geschwind DH, Jacobson S, Reich DS. Transcriptomic architecture of nuclei in the marmoset CNS.. Nature communications, 2022.
• Hoffman GE, Jaffe AE, Gandal MJ, Collado-Torres L, Sieberts SK, Devlin B, Geschwind DH, Weinberger DR, Roussos P. Comment on: What genes are differentially expressed in individuals with schizophrenia? A systematic review.. Molecular psychiatry, 2022.
• Johnson R, Ding Y, Venkateswaran V, Bhattacharya A, Boulier K, Chiu A, Knyazev S, Schwarz T, Freund M, Zhan L, Burch KS, Caggiano C, Hill B, Rakocz N, Balliu B, Denny CT, Sul JH, Zaitlen N, Arboleda VA, Halperin E, Sankararaman S, Butte MJ, UCLA Precision Health Data Discovery Repository Working Group, UCLA Precision Health ATLAS Working G, Lajonchere C, Geschwind DH, Pasaniuc B. Leveraging genomic diversity for discovery in an electronic health record linked biobank: the UCLA ATLAS Community Health Initiative.. Genome medicine, 2022.
• Thompson M, Hill BL, Rakocz N, Chiang JN, Geschwind D, Sankararaman S, Hofer I, Cannesson M, Zaitlen N, Halperin E. Methylation risk scores are associated with a collection of phenotypes within electronic health record systems.. NPJ genomic medicine, 2022.
• Cooper YA, Teyssier N, Dräger NM, Guo Q, Davis JE, Sattler SM, Yang Z, Patel A, Wu S, Kosuri S, Coppola G, Kampmann M, Geschwind DH. Functional regulatory variants implicate distinct transcriptional networks in dementia.. Science (New York, N.Y.), 2022.
• Zhou X, Feliciano P, Shu C, Wang T, Astrovskaya I, Hall JB, Obiajulu JU, Wright JR, Murali SC, Xu SX, Brueggeman L, Thomas TR, Marchenko O, Fleisch C, Barns SD, Snyder LG, Han B, Chang TS, Turner TN, Harvey WT, Nishida A, O'Roak BJ, Geschwind DH, SPARK Consortium, Michaelson JJ, Volfovsky N, Eichler EE, Shen Y, Chung WK. Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.. Nature genetics, 2022.
• Cheng Y, Yin Y, Zhang A, Bernstein AM, Kawaguchi R, Gao K, Potter K, Gilbert HY, Ao Y, Ou J, Fricano-Kugler CJ, Goldberg JL, He Z, Woolf CJ, Sofroniew MV, Benowitz LI, Geschwind DH. Transcription factor network analysis identifies REST/NRSF as an intrinsic regulator of CNS regeneration in mice.. Nature communications, 2022.
• van Niekerk EA, Kawaguchi R, Marques de Freria C, Groeniger K, Marchetto MC, Dupraz S, Bradke F, Geschwind DH, Gage FH, Tuszynski MH. Methods for culturing adult CNS neurons reveal a CNS conditioning effect.. Cell reports methods, 2022.
• Tipton PW, Deutschlaender AB, Savica R, Heckman MG, Brushaber DE, Dickerson BC, Gavrilova RH, Geschwind DH, Ghoshal N, Graff-Radford J, Graff-Radford NR, Grossman M, Hsiung GR, Huey ED, Irwin DJ, Jones DT, Knopman DS, McGinnis SM, Rademakers R, Ramos EM, Forsberg LK, Heuer HW, Onyike C, Tartaglia C, Domoto-Reilly K, Roberson ED, Mendez MF, Litvan I, Appleby BS, Grant I, Kaufer D, Boxer AL, Rosen HJ, Boeve BF, Wszolek ZK, ALLFTD Consortium. Differences in Motor Features of C9orf72, MAPT, or GRN Variant Carriers With Familial Frontotemporal Lobar Degeneration.. Neurology, 2022.
• Tian F, Cheng Y, Zhou S, Wang Q, Monavarfeshani A, Gao K, Jiang W, Kawaguchi R, Wang Q, Tang M, Donahue R, Meng H, Zhang Y, Jacobi A, Yan W, Yin J, Cai X, Yang Z, Hegarty S, Stanicka J, Dmitriev P, Taub D, Zhu J, Woolf CJ, Sanes JR, Geschwind DH, He Z. Core transcription programs controlling injury-induced neurodegeneration of retinal ganglion cells.. Neuron, 2022.
• Friedberg A, Ramos EM, Yang Z, Bonham LW, Yokoyama JS, Ljubenkov PA, Younes K, Geschwind DH, Miller BL. Case Report: Novel CSF1R Variant in a Patient With Behavioral Variant Frontotemporal Dementia Syndrome With Prodromal Repetitive Scratching Behavior.. Frontiers in neurology, 2022.
• Berto S, Treacher AH, Caglayan E, Luo D, Haney JR, Gandal MJ, Geschwind DH, Montillo AA, Konopka G. Association between resting-state functional brain connectivity and gene expression is altered in autism spectrum disorder.. Nature communications, 2022.
• Warrier V, Zhang X, Reed P, Havdahl A, Moore TM, Cliquet F, Leblond CS, Rolland T, Rosengren A, EU-AIMS LEAP, iPSYCH-Autism Working Group, Spectrum 10K and APEX Consortia, Rowitch DH, Hurles ME, Geschwind DH, Børglum AD, Robinson EB, Grove J, Martin HC, Bourgeron T, Baron-Cohen S. Genetic correlates of phenotypic heterogeneity in autism.. Nature genetics, 2022.
• Lawrence KE, Hernandez LM, Fuster E, Padgaonkar NT, Patterson G, Jung J, Okada NJ, Lowe JK, Hoekstra JN, Jack A, Aylward E, Gaab N, Van Horn JD, Bernier RA, McPartland JC, Webb SJ, Pelphrey KA, Green SA, Bookheimer SY, Geschwind DH, Dapretto M, GENDAAR Consortium. Impact of autism genetic risk on brain connectivity: a mechanism for the female protective effect.. Brain : a journal of neurology, 2022.
• Needham BD, Funabashi M, Adame MD, Wang Z, Boktor JC, Haney J, Wu WL, Rabut C, Ladinsky MS, Hwang SJ, Guo Y, Zhu Q, Griffiths JA, Knight R, Bjorkman PJ, Shapiro MG, Geschwind DH, Holschneider DP, Fischbach MA, Mazmanian SK. A gut-derived metabolite alters brain activity and anxiety behaviour in mice.. Nature, 2022.
• Athanasiadis G, Meijsen JJ, Helenius D, Schork AJ, Ingason A, Thompson WK, Geschwind DH, Werge T, Buil A. A comprehensive map of genetic relationships among diagnostic categories based on 48.6 million relative pairs from the Danish genealogy.. Proceedings of the National Academy of Sciences of the United States of America, 2022.
• Tracy TE, Madero-Pérez J, Swaney DL, Chang TS, Moritz M, Konrad C, Ward ME, Stevenson E, Hüttenhain R, Kauwe G, Mercedes M, Sweetland-Martin L, Chen X, Mok SA, Wong MY, Telpoukhovskaia M, Min SW, Wang C, Sohn PD, Martin J, Zhou Y, Luo W, Trojanowski JQ, Lee VMY, Gong S, Manfredi G, Coppola G, Krogan NJ, Geschwind DH, Gan L. Tau interactome maps synaptic and mitochondrial processes associated with neurodegeneration.. Cell, 2022.
• Liston C, Roberts A, Dzirasa K, Geschwind D, Ahmari SE, Lüscher C. Understanding the biological basis of psychiatric disease: What's next?. Cell, 2022.
• Duy PQ, Rakic P, Alper SL, Butler WE, Walsh CA, Sestan N, Geschwind DH, Jin SC, Kahle KT. Brain ventricles as windows into brain development and disease.. Neuron, 2022.
• Birey F, Li MY, Gordon A, Thete MV, Valencia AM, Revah O, Pasca AM, Geschwind DH, Pasca SP. Dissecting the molecular basis of human interneuron migration in forebrain assembloids from Timothy syndrome.. Cell stem cell, 2022.
• Calle Sánchez X, Helenius D, Bybjerg-Grauholm J, Pedersen C, Hougaard DM, Børglum AD, Nordentoft M, Mors O, Mortensen PB, Geschwind DH, Montalbano S, Raznahan A, Thompson WK, Ingason A, Werge T. Comparing Copy Number Variations in a Danish Case Cohort of Individuals With Psychiatric Disorders.. JAMA psychiatry, 2022.
• Choe KY, Bethlehem RAI, Safrin M, Dong H, Salman E, Li Y, Grinevich V, Golshani P, DeNardo LA, Peñagarikano O, Harris NG, Geschwind DH. Oxytocin normalizes altered circuit connectivity for social rescue of the Cntnap2 knockout mouse.. Neuron, 2021.
• Lajonchere C, Naeim A, Dry S, Wenger N, Elashoff D, Vangala S, Petruse A, Ariannejad M, Magyar C, Johansen L, Werre G, Kroloff M, Geschwind D. An Integrated, Scalable, Electronic Video Consent Process to Power Precision Health Research: Large, Population-Based, Cohort Implementation and Scalability Study.. Journal of medical Internet research, 2021.
• Krebs MD, Themudo GE, Benros ME, Mors O, Børglum AD, Hougaard D, Mortensen PB, Nordentoft M, Gandal MJ, Fan CC, Geschwind DH, Schork AJ, Werge T, Thompson WK. Associations between patterns in comorbid diagnostic trajectories of individuals with schizophrenia and etiological factors.. Nature communications, 2021.
• Geschwind DH. Oxytocin for Autism Spectrum Disorder - Down, but Not Out.. The New England journal of medicine, 2021.
• Vlasova RM, Iosif AM, Ryan AM, Funk LH, Murai T, Chen S, Lesh TA, Rowland DJ, Bennett J, Hogrefe CE, Maddock RJ, Gandal MJ, Geschwind DH, Schumann CM, Van de Water J, McAllister AK, Carter CS, Styner MA, Amaral DG, Bauman MD. Maternal Immune Activation during Pregnancy Alters Postnatal Brain Growth and Cognitive Development in Nonhuman Primate Offspring.. The Journal of neuroscience : the official journal of the Society for Neuroscience, 2021.
• Eyring KW, Geschwind DH. Three decades of ASD genetics: building a foundation for neurobiological understanding and treatment.. Human molecular genetics, 2021.
• Peng M, Wamsley B, Elkins AG, Geschwind DH, Wei Y, Roeder K. Cell type hierarchy reconstruction via reconciliation of multi-resolution cluster tree.. Nucleic acids research, 2021.
• López-Aranda MF, Chattopadhyay I, Boxx GM, Fraley ER, Silva TK, Zhou M, Phan M, Herrera I, Taloma S, Mandanas R, Bach K, Gandal M, Geschwind DH, Cheng G, Rzhetsky A, White SA, Silva AJ. Postnatal immune activation causes social deficits in a mouse model of tuberous sclerosis: Role of microglia and clinical implications.. Science advances, 2021.
• Allison T, Langerman J, Sabri S, Otero-Garcia M, Lund A, Huang J, Wei X, Samarasinghe RA, Polioudakis D, Mody I, Cobos I, Novitch BG, Geschwind DH, Plath K, Lowry WE. Defining the nature of human pluripotent stem cell-derived interneurons via single-cell analysis.. Stem cell reports, 2021.
• Aygün N, Elwell AL, Liang D, Lafferty MJ, Cheek KE, Courtney KP, Mory J, Hadden-Ford E, Krupa O, de la Torre-Ubieta L, Geschwind DH, Love MI, Stein JL. Brain-trait-associated variants impact cell-type-specific gene regulation during neurogenesis.. American journal of human genetics, 2021.
• Saravanapandian V, Nadkarni D, Hsu SH, Hussain SA, Maski K, Golshani P, Colwell CS, Balasubramanian S, Dixon A, Geschwind DH, Jeste SS. Abnormal sleep physiology in children with 15q11.2-13.1 duplication (Dup15q) syndrome.. Molecular autism, 2021.
• Kundishora AJ, Peters ST, Pinard A, Duran D, Panchagnula S, Barak T, Miyagishima DF, Dong W, Smith H, Ocken J, Dunbar A, Nelson-Williams C, Haider S, Walker RL, Li B, Zhao H, Thumkeo D, Marlier A, Duy PQ, Diab NS, Reeves BC, Robert SM, Sujijantarat N, Stratman AN, Chen YH, Zhao S, Roszko I, Lu Q, Zhang B, Mane S, Castaldi C, López-Giráldez F, Knight JR, Bamshad MJ, Nickerson DA, Geschwind DH, Chen SL, Storm PB, Diluna ML, Matouk CC, Orbach DB, Alper SL, Smith ER, Lifton RP, Gunel M, Milewicz DM, Jin SC, Kahle KT. DIAPH1 Variants in Non-East Asian Patients With Sporadic Moyamoya Disease.. JAMA neurology, 2021.
• Jack A, Sullivan CAW, Aylward E, Bookheimer SY, Dapretto M, Gaab N, Van Horn JD, Eilbott J, Jacokes Z, Torgerson CM, Bernier RA, Geschwind DH, McPartland JC, Nelson CA, Webb SJ, Pelphrey KA, Gupta AR, GENDAAR Consortium. A neurogenetic analysis of female autism.. Brain : a journal of neurology, 2021.
• Hartl CL, Ramaswami G, Pembroke WG, Muller S, Pintacuda G, Saha A, Parsana P, Battle A, Lage K, Geschwind DH. Coexpression network architecture reveals the brain-wide and multiregional basis of disease susceptibility.. Nature neuroscience, 2021.
• Li J, Pan L, Pembroke WG, Rexach JE, Godoy MI, Condro MC, Alvarado AG, Harteni M, Chen YW, Stiles L, Chen AY, Wanner IB, Yang X, Goldman SA, Geschwind DH, Kornblum HI, Zhang Y. Conservation and divergence of vulnerability and responses to stressors between human and mouse astrocytes.. Nature communications, 2021.
• Hu B, Won H, Mah W, Park RB, Kassim B, Spiess K, Kozlenkov A, Crowley CA, Pochareddy S, PsychENCODE Consortium, Li Y, Dracheva S, Sestan N, Akbarian S, Geschwind DH. Neuronal and glial 3D chromatin architecture informs the cellular etiology of brain disorders.. Nature communications, 2021.
• Lall D, Lorenzini I, Mota TA, Bell S, Mahan TE, Ulrich JD, Davtyan H, Rexach JE, Muhammad AKMG, Shelest O, Landeros J, Vazquez M, Kim J, Ghaffari L, O'Rourke JG, Geschwind DH, Blurton-Jones M, Holtzman DM, Sattler R, Baloh RH. C9orf72 deficiency promotes microglial-mediated synaptic loss in aging and amyloid accumulation.. Neuron, 2021.
• Liang D, Elwell AL, Aygün N, Krupa O, Wolter JM, Kyere FA, Lafferty MJ, Cheek KE, Courtney KP, Yusupova M, Garrett ME, Ashley-Koch A, Crawford GE, Love MI, de la Torre-Ubieta L, Geschwind DH, Stein JL. Cell-type-specific effects of genetic variation on chromatin accessibility during human neuronal differentiation.. Nature neuroscience, 2021.
• Wang JC, Ramaswami G, Geschwind DH. Gene co-expression network analysis in human spinal cord highlights mechanisms underlying amyotrophic lateral sclerosis susceptibility.. Scientific reports, 2021.
• Gordon A, Yoon SJ, Tran SS, Makinson CD, Park JY, Andersen J, Valencia AM, Horvath S, Xiao X, Huguenard JR, Pa?ca SP, Geschwind DH. Long-term maturation of human cortical organoids matches key early postnatal transitions.. Nature neuroscience, 2021.
• Chang TS, Ding Y, Freund MK, Johnson R, Schwarz T, Yabu JM, Hazlett C, Chiang JN, Wulf DA, UCLA Precision Health Data Discovery Repository Working Group, Geschwind DH, Butte MJ, Pasaniuc B. Pre-existing conditions in Hispanics/Latinxs that are COVID-19 risk factors.. iScience, 2021.
• Pembroke WG, Hartl CL, Geschwind DH. Evolutionary conservation and divergence of the human brain transcriptome.. Genome biology, 2021.
• Maor-Nof M, Shipony Z, Lopez-Gonzalez R, Nakayama L, Zhang YJ, Couthouis J, Blum JA, Castruita PA, Linares GR, Ruan K, Ramaswami G, Simon DJ, Nof A, Santana M, Han K, Sinnott-Armstrong N, Bassik MC, Geschwind DH, Tessier-Lavigne M, Attardi LD, Lloyd TE, Ichida JK, Gao FB, Greenleaf WJ, Yokoyama JS, Petrucelli L, Gitler AD. p53 is a central regulator driving neurodegeneration caused by C9orf72 poly(PR).. Cell, 2021.
• Gandal MJ, Geschwind DH. Polygenicity in Psychiatry-Like It or Not, We Have to Understand It.. Biological psychiatry, 2021.
• Kalinski AL, Yoon C, Huffman LD, Duncker PC, Kohen R, Passino R, Hafner H, Johnson C, Kawaguchi R, Carbajal KS, Jara JS, Hollis E, Geschwind DH, Segal BM, Giger RJ. Analysis of the immune response to sciatic nerve injury identifies efferocytosis as a key mechanism of nerve debridement.. eLife, 2020.
• Chu SA, Flagan TM, Staffaroni AM, Jiskoot LC, Deng J, Spina S, Zhang L, Sturm VE, Yokoyama JS, Seeley WW, Papma JM, Geschwind DH, Rosen HJ, Boeve BF, Boxer AL, Heuer HW, Forsberg LK, Brushaber DE, Grossman M, Coppola G, Dickerson BC, Bordelon YM, Faber K, Feldman HH, Fields JA, Fong JC, Foroud T, Gavrilova RH, Ghoshal N, Graff-Radford NR, Hsiung GR, Huey ED, Irwin DJ, Kantarci K, Kaufer DI, Karydas AM, Knopman DS, Kornak J, Kramer JH, Kukull WA, Lapid MI, Litvan I, Mackenzie IRA, Mendez MF, Miller BL, Onyike CU, Pantelyat AY, Rademakers R, Marisa Ramos E, Roberson ED, Carmela Tartaglia M, Tatton NA, Toga AW, Vetor A, Weintraub S, Wong B, Wszolek ZK, ARTFL/LEFFTDS Consortium, Van Swieten JC, Lee SE. Brain volumetric deficits in MAPT mutation carriers: a multisite study.. Annals of clinical and translational neurology, 2020.
• Seidlitz J, Nadig A, Liu S, Bethlehem RAI, Vértes PE, Morgan SE, Váša F, Romero-Garcia R, Lalonde FM, Clasen LS, Blumenthal JD, Paquola C, Bernhardt B, Wagstyl K, Polioudakis D, de la Torre-Ubieta L, Geschwind DH, Han JC, Lee NR, Murphy DG, Bullmore ET, Raznahan A. Author Correction: Transcriptomic and cellular decoding of regional brain vulnerability to neurogenetic disorders.. Nature communications, 2020.
• Rexach JE, Polioudakis D, Yin A, Swarup V, Chang TS, Nguyen T, Sarkar A, Chen L, Huang J, Lin LC, Seeley W, Trojanowski JQ, Malhotra D, Geschwind DH. Tau Pathology Drives Dementia Risk-Associated Gene Networks toward Chronic Inflammatory States and Immunosuppression.. Cell reports, 2020.
• Geschwind DH, Gleeson JG. Editorial overview: Neurodevelopment Diseases and Neurogenetics pivot towards mechanisms and therapies.. Current opinion in genetics & development, 2020.
• Page NF, Gandal MJ, Estes ML, Cameron S, Buth J, Parhami S, Ramaswami G, Murray K, Amaral DG, Van de Water JA, Schumann CM, Carter CS, Bauman MD, McAllister AK, Geschwind DH. Alterations in Retrotransposition, Synaptic Connectivity, and Myelination Implicated by Transcriptomic Changes Following Maternal Immune Activation in Nonhuman Primates.. Biological psychiatry, 2020.
• Jin SC, Dong W, Kundishora AJ, Panchagnula S, Moreno-De-Luca A, Furey CG, Allocco AA, Walker RL, Nelson-Williams C, Smith H, Dunbar A, Conine S, Lu Q, Zeng X, Sierant MC, Knight JR, Sullivan W, Duy PQ, DeSpenza T, Reeves BC, Karimy JK, Marlier A, Castaldi C, Tikhonova IR, Li B, Peña HP, Broach JR, Kabachelor EM, Ssenyonga P, Hehnly C, Ge L, Keren B, Timberlake AT, Goto J, Mangano FT, Johnston JM, Butler WE, Warf BC, Smith ER, Schiff SJ, Limbrick DD, Heuer G, Jackson EM, Iskandar BJ, Mane S, Haider S, Guclu B, Bayri Y, Sahin Y, Duncan CC, Apuzzo MLJ, DiLuna ML, Hoffman EJ, Sestan N, Ment LR, Alper SL, Bilguvar K, Geschwind DH, Günel M, Lifton RP, Kahle KT. Exome sequencing implicates genetic disruption of prenatal neuro-gliogenesis in sporadic congenital hydrocephalus.. Nature medicine, 2020.
• Li Y, He X, Kawaguchi R, Zhang Y, Wang Q, Monavarfeshani A, Yang Z, Chen B, Shi Z, Meng H, Zhou S, Zhu J, Jacobi A, Swarup V, Popovich PG, Geschwind DH, He Z. Microglia-organized scar-free spinal cord repair in neonatal mice.. Nature, 2020.
• Khan TA, Revah O, Gordon A, Yoon SJ, Krawisz AK, Goold C, Sun Y, Kim CH, Tian Y, Li MY, Schaepe JM, Ikeda K, Amin ND, Sakai N, Yazawa M, Kushan L, Nishino S, Porteus MH, Rapoport JL, Bernstein JA, O'Hara R, Bearden CE, Hallmayer JF, Huguenard JR, Geschwind DH, Dolmetsch RE, Pasca SP. Neuronal defects in a human cellular model of 22q11.2 deletion syndrome.. Nature medicine, 2020.
• Ramaswami G, Won H, Gandal MJ, Haney J, Wang JC, Wong CCY, Sun W, Prabhakar S, Mill J, Geschwind DH. Integrative genomics identifies a convergent molecular subtype that links epigenomic with transcriptomic differences in autism.. Nature communications, 2020.
• Rexach J, Geschwind D. Selective Neuronal Vulnerability in Alzheimer's Disease: A Modern Holy Grail.. Neuron, 2020.
• Constantino JN, Abbacchi AM, Saulnier C, Klaiman C, Mandell DS, Zhang Y, Hawks Z, Bates J, Klin A, Shattuck P, Molholm S, Fitzgerald R, Roux A, Lowe JK, Geschwind DH. Timing of the Diagnosis of Autism in African American Children.. Pediatrics, 2020.
• Renthal W, Tochitsky I, Yang L, Cheng YC, Li E, Kawaguchi R, Geschwind DH, Woolf CJ. Transcriptional Reprogramming of Distinct Peripheral Sensory Neuron Subtypes after Axonal Injury.. Neuron, 2020.
• Lawrence KE, Hernandez LM, Bowman HC, Padgaonkar NT, Fuster E, Jack A, Aylward E, Gaab N, Van Horn JD, Bernier RA, Geschwind DH, McPartland JC, Nelson CA, Webb SJ, Pelphrey KA, Green SA, Bookheimer SY, Dapretto M, GENDAAR Consortium. Sex Differences in Functional Connectivity of the Salience, Default Mode, and Central Executive Networks in Youth with ASD.. Cerebral cortex (New York, N.Y. : 1991), 2020.
• Chang TS, Ding Y, Freund MK, Johnson R, Schwarz T, Yabu JM, Hazlett C, Chiang JN, Wulf A, UCLA Health Data Mart Working Group, Geschwind DH, Butte MJ, Pasaniuc B. Prior diagnoses and medications as risk factors for COVID-19 in a Los Angeles Health System.. medRxiv : the preprint server for health sciences, 2020.
• Wamsley B, Geschwind DH. Functional genomics links genetic origins to pathophysiology in neurodegenerative and neuropsychiatric disease.. Current opinion in genetics & development, 2020.
• Seidlitz J, Nadig A, Liu S, Bethlehem RAI, Vértes PE, Morgan SE, Váša F, Romero-Garcia R, Lalonde FM, Clasen LS, Blumenthal JD, Paquola C, Bernhardt B, Wagstyl K, Polioudakis D, de la Torre-Ubieta L, Geschwind DH, Han JC, Lee NR, Murphy DG, Bullmore ET, Raznahan A. Transcriptomic and cellular decoding of regional brain vulnerability to neurogenetic disorders.. Nature communications, 2020.
• Adhya D, Swarup V, Nagy R, Dutan L, Shum C, Valencia-Alarcón EP, Jozwik KM, Mendez MA, Horder J, Loth E, Nowosiad P, Lee I, Skuse D, Flinter FA, Murphy D, McAlonan G, Geschwind DH, Price J, Carroll J, Srivastava DP, Baron-Cohen S. Atypical Neurogenesis in Induced Pluripotent Stem Cells From Autistic Individuals.. Biological psychiatry, 2020.
• Swarup V, Chang TS, Duong DM, Dammer EB, Dai J, Lah JJ, Johnson ECB, Seyfried NT, Levey AI, Geschwind DH. Identification of Conserved Proteomic Networks in Neurodegenerative Dementia.. Cell reports, 2020.
• Lawrence KE, Hernandez LM, Eilbott J, Jack A, Aylward E, Gaab N, Van Horn JD, Bernier RA, Geschwind DH, McPartland JC, Nelson CA, Webb SJ, Pelphrey KA, Bookheimer SY, Dapretto M, GENDAAR Consortium. Neural responsivity to social rewards in autistic female youth.. Translational psychiatry, 2020.
• Walker RL, Ramaswami G, Hartl C, Mancuso N, Gandal MJ, de la Torre-Ubieta L, Pasaniuc B, Stein JL, Geschwind DH. Genetic Control of Expression and Splicing in Developing Human Brain Informs Disease Mechanisms.. Cell, 2020.
• Walker RL, Ramaswami G, Hartl C, Mancuso N, Gandal MJ, Torre-Ubieta L, Pasaniuc B, Stein JL, Geschwind DH. Genetic Control of Expression and Splicing in Developing Human Brain Informs Disease Mechanisms.. Cell, 2020.
• Gordon A, Geschwind DH. Human in vitro models for understanding mechanisms of autism spectrum disorder.. Molecular autism, 2020.
• Bayraktar OA, Bartels T, Holmqvist S, Kleshchevnikov V, Martirosyan A, Polioudakis D, Ben Haim L, Young AMH, Batiuk MY, Prakash K, Brown A, Roberts K, Paredes MF, Kawaguchi R, Stockley JH, Sabeur K, Chang SM, Huang E, Hutchinson P, Ullian EM, Hemberg M, Coppola G, Holt MG, Geschwind DH, Rowitch DH. Astrocyte layers in the mammalian cerebral cortex revealed by a single-cell in situ transcriptomic map.. Nature neuroscience, 2020.
• Hernandez LM, Lawrence KE, Padgaonkar NT, Inada M, Hoekstra JN, Lowe JK, Eilbott J, Jack A, Aylward E, Gaab N, Van Horn JD, Bernier RA, McPartland JC, Webb SJ, Pelphrey KA, Green SA, Geschwind DH, Bookheimer SY, Dapretto M, GENDAAR Consortium. Imaging-genetics of sex differences in ASD: distinct effects of OXTR variants on brain connectivity.. Translational psychiatry, 2020.
• Ngo KJ, Rexach JE, Lee H, Petty LE, Perlman S, Valera JM, Deignan JL, Mao Y, Aker M, Posey JE, Jhangiani SN, Coban-Akdemir ZH, Boerwinkle E, Muzny D, Nelson AB, Hassin-Baer S, Poke G, Neas K, Geschwind MD, Grody WW, Gibbs R, Geschwind DH, Lupski JR, Below JE, Nelson SF, Fogel BL. A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders.. Human mutation, 2019.
• Gordon A, Forsingdal A, Klewe IV, Nielsen J, Didriksen M, Werge T, Geschwind DH. Transcriptomic networks implicate neuronal energetic abnormalities in three mouse models harboring autism and schizophrenia-associated mutations.. Molecular psychiatry, 2019.
• Lin LC, Nana AL, Hepker M, Hwang JL, Gaus SE, Spina S, Cosme CG, Gan L, Grinberg LT, Geschwind DH, Coppola G, Rosen HJ, Miller BL, Seeley WW. Preferential tau aggregation in von Economo neurons and fork cells in frontotemporal lobar degeneration with specific MAPT variants.. Acta neuropathologica communications, 2019.
• Walker RL, Ramaswami G, Hartl C, Mancuso N, Gandal MJ, de la Torre-Ubieta L, Pasaniuc B, Stein JL, Geschwind DH. Genetic Control of Expression and Splicing in Developing Human Brain Informs Disease Mechanisms.. Cell, 2019.
• Brown JA, Deng J, Neuhaus J, Sible IJ, Sias AC, Lee SE, Kornak J, Marx GA, Karydas AM, Spina S, Grinberg LT, Coppola G, Geschwind DH, Kramer JH, Gorno-Tempini ML, Miller BL, Rosen HJ, Seeley WW. Patient-Tailored, Connectivity-Based Forecasts of Spreading Brain Atrophy.. Neuron, 2019.
• Sanders SJ, Sahin M, Hostyk J, Thurm A, Jacquemont S, Avillach P, Douard E, Martin CL, Modi ME, Moreno-De-Luca A, Raznahan A, Anticevic A, Dolmetsch R, Feng G, Geschwind DH, Glahn DC, Goldstein DB, Ledbetter DH, Mulle JG, Pasca SP, Samaco R, Sebat J, Pariser A, Lehner T, Gur RE, Bearden CE. A framework for the investigation of rare genetic disorders in neuropsychiatry.. Nature medicine, 2019.
• Kunkle BW, Grenier-Boley B, Sims R, Bis JC, Damotte V, Naj AC, Boland A, Vronskaya M, van der Lee SJ, Amlie-Wolf A, Bellenguez C, Frizatti A, Chouraki V, Martin ER, Sleegers K, Badarinarayan N, Jakobsdottir J, Hamilton-Nelson KL, Moreno-Grau S, Olaso R, Raybould R, Chen Y, Kuzma AB, Hiltunen M, Morgan T, Ahmad S, Vardarajan BN, Epelbaum J, Hoffmann P, Boada M, Beecham GW, Garnier JG, Harold D, Fitzpatrick AL, Valladares O, Moutet ML, Gerrish A, Smith AV, Qu L, Bacq D, Denning N, Jian X, Zhao Y, Del Zompo M, Fox NC, Choi SH, Mateo I, Hughes JT, Adams HH, Malamon J, Sanchez-Garcia F, Patel Y, Brody JA, Dombroski BA, Naranjo MCD, Daniilidou M, Eiriksdottir G, Mukherjee S, Wallon D, Uphill J, Aspelund T, Cantwell LB, Garzia F, Galimberti D, Hofer E, Butkiewicz M, Fin B, Scarpini E, Sarnowski C, Bush WS, Meslage S, Kornhuber J, White CC, Song Y, Barber RC, Engelborghs S, Sordon S, Voijnovic D, Adams PM, Vandenberghe R, Mayhaus M, Cupples LA, Albert MS, De Deyn PP, Gu W, Himali JJ, Beekly D, Squassina A, Hartmann AM, Orellana A, Blacker D, Rodriguez-Rodriguez E, Lovestone S, Garcia ME, Doody RS, Munoz-Fernadez C, Sussams R, Lin H, Fairchild TJ, Benito YA, Holmes C, Karamujic-Comic H, Frosch MP, Thonberg H, Maier W, Roshchupkin G, Ghetti B, Giedraitis V, Kawalia A, Li S, Huebinger RM, Kilander L, Moebus S, Hernández I, Kamboh MI, Brundin R, Turton J, Yang Q, Katz MJ, Concari L, Lord J, Beiser AS, Keene CD, Helisalmi S, Kloszewska I, Kukull WA, Koivisto AM, Lynch A, Tarraga L, Larson EB, Haapasalo A, Lawlor B, Mosley TH, Lipton RB, Solfrizzi V, Gill M, Longstreth WT, Montine TJ, Frisardi V, Diez-Fairen M, Rivadeneira F, Petersen RC, Deramecourt V, Alvarez I, Salani F, Ciaramella A, Boerwinkle E, Reiman EM, Fievet N, Rotter JI, Reisch JS, Hanon O, Cupidi C, Uitterlinden AGA, Royall DR, Dufouil C, Maletta RG, de Rojas I, Sano M, Brice A, Cecchetti R, George-Hyslop PS, Ritchie K, Tsolaki M, Tsuang DW, Dubois B, Craig D, Wu CK, Soininen H, Avramidou D, Albin RL, Fratiglioni L, Germanou A, Apostolova LG, Keller L, Koutroumani M, Arnold SE, Panza F, Gkatzima O, Asthana S, Hannequin D, Whitehead P, Atwood CS, Caffarra P, Hampel H, Quintela I, Carracedo Á, Lannfelt L, Rubinsztein DC, Barnes LL, Pasquier F, Frölich L, Barral S, McGuinness B, Beach TG, Johnston JA, Becker JT, Passmore P, Bigio EH, Schott JM, Bird TD, Warren JD, Boeve BF, Lupton MK, Bowen JD, Proitsi P, Boxer A, Powell JF, Burke JR, Kauwe JSK, Burns JM, Mancuso M, Buxbaum JD, Bonuccelli U, Cairns NJ, McQuillin A, Cao C, Livingston G, Carlson CS, Bass NJ, Carlsson CM, Hardy J, Carney RM, Bras J, Carrasquillo MM, Guerreiro R, Allen M, Chui HC, Fisher E, Masullo C, Crocco EA, DeCarli C, Bisceglio G, Dick M, Ma L, Duara R, Graff-Radford NR, Evans DA, Hodges A, Faber KM, Scherer M, Fallon KB, Riemenschneider M, Fardo DW, Heun R, Farlow MR, Kölsch H, Ferris S, Leber M, Foroud TM, Heuser I, Galasko DR, Giegling I, Gearing M, Hüll M, Geschwind DH, Gilbert JR, Morris J, Green RC, Mayo K, Growdon JH, Feulner T, Hamilton RL, Harrell LE, Drichel D, Honig LS, Cushion TD, Huentelman MJ, Hollingworth P, Hulette CM, Hyman BT, Marshall R, Jarvik GP, Meggy A, Abner E, Menzies GE, Jin LW, Leonenko G, Real LM, Jun GR, Baldwin CT, Grozeva D, Karydas A, Russo G, Kaye JA, Kim R, Jessen F, Kowall NW, Vellas B, Kramer JH, Vardy E, LaFerla FM, Jöckel KH, Lah JJ, Dichgans M, Leverenz JB, Mann D, Levey AI, Pickering-Brown S, Lieberman AP, Klopp N, Lunetta KL, Wichmann HE, Lyketsos CG, Morgan K, Marson DC, Brown K, Martiniuk F, Medway C, Mash DC, Nöthen MM, Masliah E, Hooper NM, McCormick WC, Daniele A, McCurry SM, Bayer A, McDavid AN, Gallacher J, McKee AC, van den Bussche H, Mesulam M, Brayne C, Miller BL, Riedel-Heller S, Miller CA, Miller JW, Al-Chalabi A, Morris JC, Shaw CE, Myers AJ, Wiltfang J, O'Bryant S, Olichney JM, Alvarez V, Parisi JE, Singleton AB, Paulson HL, Collinge J, Perry WR, Mead S, Peskind E, Cribbs DH, Rossor M, Pierce A, Ryan NS, Poon WW, Nacmias B, Potter H, Sorbi S, et al. Author Correction: Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing.. Nature genetics, 2019.
• Shi G, Xing L, Wu D, Bhattacharyya BJ, Jones CR, McMahon T, Chong SYC, Chen JA, Coppola G, Geschwind D, Krystal A, Ptácek LJ, Fu YH. A Rare Mutation of β1-Adrenergic Receptor Affects Sleep/Wake Behaviors.. Neuron, 2019.
• Lee C, Kang EY, Gandal MJ, Eskin E, Geschwind DH. Profiling allele-specific gene expression in brains from individuals with autism spectrum disorder reveals preferential minor allele usage.. Nature neuroscience, 2019.
• Ruzzo EK, Pérez-Cano L, Jung JY, Wang LK, Kashef-Haghighi D, Hartl C, Singh C, Xu J, Hoekstra JN, Leventhal O, Leppä VM, Gandal MJ, Paskov K, Stockham N, Polioudakis D, Lowe JK, Prober DA, Geschwind DH, Wall DP. Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.. Cell, 2019.
• Polioudakis D, de la Torre-Ubieta L, Langerman J, Elkins AG, Shi X, Stein JL, Vuong CK, Nichterwitz S, Gevorgian M, Opland CK, Lu D, Connell W, Ruzzo EK, Lowe JK, Hadzic T, Hinz FI, Sabri S, Lowry WE, Gerstein MB, Plath K, Geschwind DH. A Single-Cell Transcriptomic Atlas of Human Neocortical Development during Mid-gestation.. Neuron, 2019.
• Forsyth JK, Nachun D, Gandal MJ, Geschwind DH, Anderson AE, Coppola G, Bearden CE. Synaptic and Gene Regulatory Mechanisms in Schizophrenia, Autism, and 22q11.2 Copy Number Variant-Mediated Risk for Neuropsychiatric Disorders.. Biological psychiatry, 2019.
• Wong CCY, Smith RG, Hannon E, Ramaswami G, Parikshak NN, Assary E, Troakes C, Poschmann J, Schalkwyk LC, Sun W, Prabhakar S, Geschwind DH, Mill J. Genome-wide DNA methylation profiling identifies convergent molecular signatures associated with idiopathic and syndromic autism in post-mortem human brain tissue.. Human molecular genetics, 2019.
• Pardiñas AF, Holmans P, Pocklington AJ, Escott-Price V, Ripke S, Carrera N, Legge SE, Bishop S, Cameron D, Hamshere ML, Han J, Hubbard L, Lynham A, Mantripragada K, Rees E, MacCabe JH, McCarroll SA, Baune BT, Breen G, Byrne EM, Dannlowski U, Eley TC, Hayward C, Martin NG, McIntosh AM, Plomin R, Porteous DJ, Wray NR, Caballero A, Geschwind DH, Huckins LM, Ruderfer DM, Santiago E, Sklar P, Stahl EA, Won H, Agerbo E, Als TD, Andreassen OA, Bækvad-Hansen M, Mortensen PB, Pedersen CB, Børglum AD, Bybjerg-Grauholm J, Djurovic S, Durmishi N, Pedersen MG, Golimbet V, Grove J, Hougaard DM, Mattheisen M, Molden E, Mors O, Nordentoft M, Pejovic-Milovancevic M, Sigurdsson E, Silagadze T, Hansen CS, Stefansson K, Stefansson H, Steinberg S, Tosato S, Werge T, GERAD1 Consortium, CRESTAR Consortium, Collier DA, Rujescu D, Kirov G, Owen MJ, O'Donovan MC, Walters JTR. Publisher Correction: Common schizophrenia alleles are enriched in mutation-intolerant genes and in regions under strong background selection.. Nature genetics, 2019.
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• Fan CC, McGrath JJ, Appadurai V, Buil A, Gandal MJ, Schork AJ, Mortensen PB, Agerbo E, Geschwind SA, Geschwind D, Werge T, Thompson WK, Pedersen CB. Spatial fine-mapping for gene-by-environment effects identifies risk hot spots for schizophrenia.. Nature communications, 2018.
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• Nana AL, Sidhu M, Gaus SE, Hwang JL, Li L, Park Y, Kim EJ, Pasquini L, Allen IE, Rankin KP, Toller G, Kramer JH, Geschwind DH, Coppola G, Huang EJ, Grinberg LT, Miller BL, Seeley WW. Neurons selectively targeted in frontotemporal dementia reveal early stage TDP-43 pathobiology.. Acta neuropathologica, 2018.
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• Raznahan A, Parikshak NN, Chandran V, Blumenthal JD, Clasen LS, Alexander-Bloch AF, Zinn AR, Wangsa D, Wise J, Murphy DGM, Bolton PF, Ried T, Ross J, Giedd JN, Geschwind DH. Sex-chromosome dosage effects on gene expression in humans.. Proceedings of the National Academy of Sciences of the United States of America, 2018.
• Brainstorm Consortium, Anttila V, Bulik-Sullivan B, Finucane HK, Walters RK, Bras J, Duncan L, Escott-Price V, Falcone GJ, Gormley P, Malik R, Patsopoulos NA, Ripke S, Wei Z, Yu D, Lee PH, Turley P, Grenier-Boley B, Chouraki V, Kamatani Y, Berr C, Letenneur L, Hannequin D, Amouyel P, Boland A, Deleuze JF, Duron E, Vardarajan BN, Reitz C, Goate AM, Huentelman MJ, Kamboh MI, Larson EB, Rogaeva E, St George-Hyslop P, Hakonarson H, Kukull WA, Farrer LA, Barnes LL, Beach TG, Demirci FY, Head E, Hulette CM, Jicha GA, Kauwe JSK, Kaye JA, Leverenz JB, Levey AI, Lieberman AP, Pankratz VS, Poon WW, Quinn JF, Saykin AJ, Schneider LS, Smith AG, Sonnen JA, Stern RA, Van Deerlin VM, Van Eldik LJ, Harold D, Russo G, Rubinsztein DC, Bayer A, Tsolaki M, Proitsi P, Fox NC, Hampel H, Owen MJ, Mead S, Passmore P, Morgan K, Nöthen MM, Rossor M, Lupton MK, Hoffmann P, Kornhuber J, Lawlor B, McQuillin A, Al-Chalabi A, Bis JC, Ruiz A, Boada M, Seshadri S, Beiser A, Rice K, van der Lee SJ, De Jager PL, Geschwind DH, Riemenschneider M, Riedel-Heller S, Rotter JI, Ransmayr G, Hyman BT, Cruchaga C, Alegret M, Winsvold B, Palta P, Farh KH, Cuenca-Leon E, Furlotte N, Kurth T, Ligthart L, Terwindt GM, Freilinger T, Ran C, Gordon SD, Borck G, Adams HHH, Lehtimäki T, Wedenoja J, Buring JE, Schürks M, Hrafnsdottir M, Hottenga JJ, Penninx B, Artto V, Kaunisto M, Vepsäläinen S, Martin NG, Montgomery GW, Kurki MI, Hämäläinen E, Huang H, Huang J, Sandor C, Webber C, Muller-Myhsok B, Schreiber S, Salomaa V, Loehrer E, Göbel H, Macaya A, Pozo-Rosich P, Hansen T, Werge T, Kaprio J, Metspalu A, Kubisch C, Ferrari MD, Belin AC, van den Maagdenberg AMJM, Zwart JA, Boomsma D, Eriksson N, Olesen J, Chasman DI, Nyholt DR, Avbersek A, Baum L, Berkovic S, Bradfield J, Buono RJ, Catarino CB, Cossette P, De Jonghe P, Depondt C, Dlugos D, Ferraro TN, French J, Hjalgrim H, Jamnadas-Khoda J, Kälviäinen R, Kunz WS, Lerche H, Leu C, Lindhout D, Lo W, Lowenstein D, McCormack M, Møller RS, Molloy A, Ng PW, Oliver K, Privitera M, Radtke R, Ruppert AK, Sander T, Schachter S, Schankin C, Scheffer I, Schoch S, Sisodiya SM, Smith P, Sperling M, Striano P, Surges R, Thomas GN, Visscher F, Whelan CD, Zara F, Heinzen EL, Marson A, Becker F, Stroink H, Zimprich F, Gasser T, Gibbs R, Heutink P, Martinez M, Morris HR, Sharma M, Ryten M, Mok KY, Pulit S, Bevan S, Holliday E, Attia J, Battey T, Boncoraglio G, Thijs V, Chen WM, Mitchell B, Rothwell P, Sharma P, Sudlow C, Vicente A, Markus H, Kourkoulis C, Pera J, Raffeld M, Silliman S, Boraska Perica V, Thornton LM, Huckins LM, William Rayner N, Lewis CM, Gratacos M, Rybakowski F, Keski-Rahkonen A, Raevuori A, Hudson JI, Reichborn-Kjennerud T, Monteleone P, Karwautz A, Mannik K, Baker JH, O'Toole JK, Trace SE, Davis OSP, Helder SG, Ehrlich S, Herpertz-Dahlmann B, Danner UN, van Elburg AA, Clementi M, Forzan M, Docampo E, Lissowska J, Hauser J, Tortorella A, Maj M, Gonidakis F, Tziouvas K, Papezova H, Yilmaz Z, Wagner G, Cohen-Woods S, Herms S, Julià A, Rabionet R, Dick DM, Ripatti S, Andreassen OA, Espeseth T, Lundervold AJ, Steen VM, Pinto D, Scherer SW, Aschauer H, Schosser A, Alfredsson L, Padyukov L, Halmi KA, Mitchell J, Strober M, Bergen AW, Kaye W, Szatkiewicz JP, Cormand B, Ramos-Quiroga JA, Sánchez-Mora C, Ribasés M, Casas M, Hervas A, Arranz MJ, Haavik J, Zayats T, Johansson S, Williams N, Dempfle A, Rothenberger A, Kuntsi J, Oades RD, Banaschewski T, Franke B, Buitelaar JK, Arias Vasquez A, Doyle AE, Reif A, Lesch KP, Freitag C, Rivero O, Palmason H, Romanos M, Langley K, Rietschel M, Witt SH, Dalsgaard S, Børglum AD, Waldman I, Wilmot B, Molly N, Bau CHD, Crosbie J, Schachar R, Loo SK, McGough JJ, Grevet EH, Medland SE, Robinson E, Weiss LA, Bacchelli E, Bailey A, Bal V, Battaglia A, Betancur C, Bolton P, Cantor R, Celestino-Soper P, Dawson G, De Rubeis S, Duque F, Green A, Klauck SM, Leboyer M, Levitt P, Maestrini E, Mane S, De-Luca DM, Parr J, Regan R, Reichenberg A, Sandin S, Vorstman J, Wassink T, Wijsman E, Cook E, et al. Analysis of shared heritability in common disorders of the brain.. Science (New York, N.Y.), 2018.
• Olsen L, Sparsø T, Weinsheimer SM, Dos Santos MBQ, Mazin W, Rosengren A, Sanchez XC, Hoeffding LK, Schmock H, Baekvad-Hansen M, Bybjerg-Grauholm J, Daly MJ, Neale BM, Pedersen MG, Agerbo E, Mors O, Børglum A, Nordentoft M, Hougaard DM, Mortensen PB, Geschwind DH, Pedersen C, Thompson WK, Werge T. Prevalence of rearrangements in the 22q11.2 region and population-based risk of neuropsychiatric and developmental disorders in a Danish population: a case-cohort study.. The lancet. Psychiatry, 2018.
• Schwede M, Nagpal S, Gandal MJ, Parikshak NN, Mirnics K, Geschwind DH, Morrow EM. Strong correlation of downregulated genes related to synaptic transmission and mitochondria in post-mortem autism cerebral cortex.. Journal of neurodevelopmental disorders, 2018.
• Quachtran B, de la Torre Ubieta L, Yusupova M, Geschwind DH, Shattuck DW. VOTING-BASED SEGMENTATION OF OVERLAPPING NUCLEI IN CLARITY IMAGES.. Proceedings. IEEE International Symposium on Biomedical Imaging, 2018.
• Gusev A, Mancuso N, Won H, Kousi M, Finucane HK, Reshef Y, Song L, Safi A, Schizophrenia Working Group of the Psychiatric Genomics Consortium, McCarroll S, Neale BM, Ophoff RA, O'Donovan MC, Crawford GE, Geschwind DH, Katsanis N, Sullivan PF, Pasaniuc B, Price AL. Transcriptome-wide association study of schizophrenia and chromatin activity yields mechanistic disease insights.. Nature genetics, 2018.
• Meeter LHH, Gendron TF, Sias AC, Jiskoot LC, Russo SP, Donker Kaat L, Papma JM, Panman JL, van der Ende EL, Dopper EG, Franzen S, Graff C, Boxer AL, Rosen HJ, Sanchez-Valle R, Galimberti D, Pijnenburg YAL, Benussi L, Ghidoni R, Borroni B, Laforce R, Del Campo M, Teunissen CE, van Minkelen R, Rojas JC, Coppola G, Geschwind DH, Rademakers R, Karydas AM, Öijerstedt L, Scarpini E, Binetti G, Padovani A, Cash DM, Dick KM, Bocchetta M, Miller BL, Rohrer JD, Petrucelli L, van Swieten JC, Lee SE. Poly(GP), neurofilament and grey matter deficits in C9orf72 expansion carriers.. Annals of clinical and translational neurology, 2018.
• Short PJ, McRae JF, Gallone G, Sifrim A, Won H, Geschwind DH, Wright CF, Firth HV, FitzPatrick DR, Barrett JC, Hurles ME. De novo mutations in regulatory elements in neurodevelopmental disorders.. Nature, 2018.
• Pardiñas AF, Holmans P, Pocklington AJ, Escott-Price V, Ripke S, Carrera N, Legge SE, Bishop S, Cameron D, Hamshere ML, Han J, Hubbard L, Lynham A, Mantripragada K, Rees E, MacCabe JH, McCarroll SA, Baune BT, Breen G, Byrne EM, Dannlowski U, Eley TC, Hayward C, Martin NG, McIntosh AM, Plomin R, Porteous DJ, Wray NR, Caballero A, Geschwind DH, Huckins LM, Ruderfer DM, Santiago E, Sklar P, Stahl EA, Won H, Agerbo E, Als TD, Andreassen OA, Bækvad-Hansen M, Mortensen PB, Pedersen CB, Børglum AD, Bybjerg-Grauholm J, Djurovic S, Durmishi N, Pedersen MG, Golimbet V, Grove J, Hougaard DM, Mattheisen M, Molden E, Mors O, Nordentoft M, Pejovic-Milovancevic M, Sigurdsson E, Silagadze T, Hansen CS, Stefansson K, Stefansson H, Steinberg S, Tosato S, Werge T, GERAD1 Consortium, CRESTAR Consortium, Collier DA, Rujescu D, Kirov G, Owen MJ, O'Donovan MC, Walters JTR. Common schizophrenia alleles are enriched in mutation-intolerant genes and in regions under strong background selection.. Nature genetics, 2018.
• Gandal MJ, Haney JR, Parikshak NN, Leppa V, Ramaswami G, Hartl C, Schork AJ, Appadurai V, Buil A, Werge TM, Liu C, White KP, CommonMind Consortium, PsychENCODE Consortium, iPSYCH-BROAD Working Group, Horvath S, Geschwind DH. Shared molecular neuropathology across major psychiatric disorders parallels polygenic overlap.. Science (New York, N.Y.), 2018.
• Gaspar HA, Collier DA, Geschwind DH, Lewis CM, Li Q, Roth BL, Sullivan PF, Breen G. Conference Report: Psychiatric Genomics Consortium Meeting: Pathways to Drugs, London, March 2017.. Biological psychiatry, 2018.
• Cobos EJ, Nickerson CA, Gao F, Chandran V, Bravo-Caparrós I, González-Cano R, Riva P, Andrews NA, Latremoliere A, Seehus CR, Perazzoli G, Nieto FR, Joller N, Painter MW, Ma CHE, Omura T, Chesler EJ, Geschwind DH, Coppola G, Rangachari M, Woolf CJ, Costigan M. Mechanistic Differences in Neuropathic Pain Modalities Revealed by Correlating Behavior with Global Expression Profiling.. Cell reports, 2018.
• de la Torre-Ubieta L, Stein JL, Won H, Opland CK, Liang D, Lu D, Geschwind DH. The Dynamic Landscape of Open Chromatin during Human Cortical Neurogenesis.. Cell, 2018.
• Geschwind DH. Evolving views of human genetic variation and its relationship to neurologic and psychiatric disease.. Handbook of clinical neurology, 2018.
• Ramaswami G, Geschwind DH. Genetics of autism spectrum disorder.. Handbook of clinical neurology, 2018.
• Geschwind DH, Paulson HL, Klein C. Preface.. Handbook of clinical neurology, 2018.
• Geschwind DH, Paulson HL, Klein C. Preface.. Handbook of clinical neurology, 2018.
• Chandran V, Gao K, Swarup V, Versano R, Dong H, Jordan MC, Geschwind DH. Inducible and reversible phenotypes in a novel mouse model of Friedreich's Ataxia.. eLife, 2017.
• Perry DC, Brown JA, Possin KL, Datta S, Trujillo A, Radke A, Karydas A, Kornak J, Sias AC, Rabinovici GD, Gorno-Tempini ML, Boxer AL, De May M, Rankin KP, Sturm VE, Lee SE, Matthews BR, Kao AW, Vossel KA, Tartaglia MC, Miller ZA, Seo SW, Sidhu M, Gaus SE, Nana AL, Vargas JNS, Hwang JL, Ossenkoppele R, Brown AB, Huang EJ, Coppola G, Rosen HJ, Geschwind D, Trojanowski JQ, Grinberg LT, Kramer JH, Miller BL, Seeley WW. Clinicopathological correlations in behavioural variant frontotemporal dementia.. Brain : a journal of neurology, 2017.
• Sanders SJ, Neale BM, Huang H, Werling DM, An JY, Dong S, Whole Genome Sequencing for Psychiatric Disorders (WGSPD), Abecasis G, Arguello PA, Blangero J, Boehnke M, Daly MJ, Eggan K, Geschwind DH, Glahn DC, Goldstein DB, Gur RE, Handsaker RE, McCarroll SA, Ophoff RA, Palotie A, Pato CN, Sabatti C, State MW, Willsey AJ, Hyman SE, Addington AM, Lehner T, Freimer NB. Whole genome sequencing in psychiatric disorders: the WGSPD consortium.. Nature neuroscience, 2017.
• Tu S, Akhtar MW, Escorihuela RM, Amador-Arjona A, Swarup V, Parker J, Zaremba JD, Holland T, Bansal N, Holohan DR, Lopez K, Ryan SD, Chan SF, Yan L, Zhang X, Huang X, Sultan A, McKercher SR, Ambasudhan R, Xu H, Wang Y, Geschwind DH, Roberts AJ, Terskikh AV, Rissman RA, Masliah E, Lipton SA, Nakanishi N. NitroSynapsin therapy for a mouse MEF2C haploinsufficiency model of human autism.. Nature communications, 2017.
• Ecker JR, Geschwind DH, Kriegstein AR, Ngai J, Osten P, Polioudakis D, Regev A, Sestan N, Wickersham IR, Zeng H. The BRAIN Initiative Cell Census Consortium: Lessons Learned toward Generating a Comprehensive Brain Cell Atlas.. Neuron, 2017.
• Allen M, Wang X, Burgess JD, Watzlawik J, Serie DJ, Younkin CS, Nguyen T, Malphrus KG, Lincoln S, Carrasquillo MM, Ho C, Chakrabarty P, Strickland S, Murray ME, Swarup V, Geschwind DH, Seyfried NT, Dammer EB, Lah JJ, Levey AI, Golde TE, Funk C, Li H, Price ND, Petersen RC, Graff-Radford NR, Younkin SG, Dickson DW, Crook JR, Asmann YW, Ertekin-Taner N. Conserved brain myelination networks are altered in Alzheimer's and other neurodegenerative diseases.. Alzheimer's & dementia : the journal of the Alzheimer's Association, 2017.
• Watanabe M, Buth JE, Vishlaghi N, de la Torre-Ubieta L, Taxidis J, Khakh BS, Coppola G, Pearson CA, Yamauchi K, Gong D, Dai X, Damoiseaux R, Aliyari R, Liebscher S, Schenke-Layland K, Caneda C, Huang EJ, Zhang Y, Cheng G, Geschwind DH, Golshani P, Sun R, Novitch BG. Self-Organized Cerebral Organoids with Human-Specific Features Predict Effective Drugs to Combat Zika Virus Infection.. Cell reports, 2017.
• Nicolas G, Sanchez-Contreras M, Ramos EM, Lemos RR, Ferreira J, Moura D, Sobrido MJ, Richard AC, Lopez AR, Legati A, Deleuze JF, Boland A, Quenez O, Krystkowiak P, Favrole P, Geschwind DH, Aran A, Segel R, Levy-Lahad E, Dickson DW, Coppola G, Rademakers R, de Oliveira JRM. Brain calcifications and PCDH12 variants.. Neurology. Genetics, 2017.
• Valera JM, Diaz T, Petty LE, Quintáns B, Yáñez Z, Boerwinkle E, Muzny D, Akhmedov D, Berdeaux R, Sobrido MJ, Gibbs R, Lupski JR, Geschwind DH, Perlman S, Below JE, Fogel BL. Prevalence of spinocerebellar ataxia 36 in a US population.. Neurology. Genetics, 2017.
• Sims R, van der Lee SJ, Naj AC, Bellenguez C, Badarinarayan N, Jakobsdottir J, Kunkle BW, Boland A, Raybould R, Bis JC, Martin ER, Grenier-Boley B, Heilmann-Heimbach S, Chouraki V, Kuzma AB, Sleegers K, Vronskaya M, Ruiz A, Graham RR, Olaso R, Hoffmann P, Grove ML, Vardarajan BN, Hiltunen M, Nöthen MM, White CC, Hamilton-Nelson KL, Epelbaum J, Maier W, Choi SH, Beecham GW, Dulary C, Herms S, Smith AV, Funk CC, Derbois C, Forstner AJ, Ahmad S, Li H, Bacq D, Harold D, Satizabal CL, Valladares O, Squassina A, Thomas R, Brody JA, Qu L, Sánchez-Juan P, Morgan T, Wolters FJ, Zhao Y, Garcia FS, Denning N, Fornage M, Malamon J, Naranjo MCD, Majounie E, Mosley TH, Dombroski B, Wallon D, Lupton MK, Dupuis J, Whitehead P, Fratiglioni L, Medway C, Jian X, Mukherjee S, Keller L, Brown K, Lin H, Cantwell LB, Panza F, McGuinness B, Moreno-Grau S, Burgess JD, Solfrizzi V, Proitsi P, Adams HH, Allen M, Seripa D, Pastor P, Cupples LA, Price ND, Hannequin D, Frank-García A, Levy D, Chakrabarty P, Caffarra P, Giegling I, Beiser AS, Giedraitis V, Hampel H, Garcia ME, Wang X, Lannfelt L, Mecocci P, Eiriksdottir G, Crane PK, Pasquier F, Boccardi V, Henández I, Barber RC, Scherer M, Tarraga L, Adams PM, Leber M, Chen Y, Albert MS, Riedel-Heller S, Emilsson V, Beekly D, Braae A, Schmidt R, Blacker D, Masullo C, Schmidt H, Doody RS, Spalletta G, Longstreth WT, Fairchild TJ, Bossù P, Lopez OL, Frosch MP, Sacchinelli E, Ghetti B, Yang Q, Huebinger RM, Jessen F, Li S, Kamboh MI, Morris J, Sotolongo-Grau O, Katz MJ, Corcoran C, Dunstan M, Braddel A, Thomas C, Meggy A, Marshall R, Gerrish A, Chapman J, Aguilar M, Taylor S, Hill M, Fairén MD, Hodges A, Vellas B, Soininen H, Kloszewska I, Daniilidou M, Uphill J, Patel Y, Hughes JT, Lord J, Turton J, Hartmann AM, Cecchetti R, Fenoglio C, Serpente M, Arcaro M, Caltagirone C, Orfei MD, Ciaramella A, Pichler S, Mayhaus M, Gu W, Lleó A, Fortea J, Blesa R, Barber IS, Brookes K, Cupidi C, Maletta RG, Carrell D, Sorbi S, Moebus S, Urbano M, Pilotto A, Kornhuber J, Bosco P, Todd S, Craig D, Johnston J, Gill M, Lawlor B, Lynch A, Fox NC, Hardy J, ARUK Consortium, Albin RL, Apostolova LG, Arnold SE, Asthana S, Atwood CS, Baldwin CT, Barnes LL, Barral S, Beach TG, Becker JT, Bigio EH, Bird TD, Boeve BF, Bowen JD, Boxer A, Burke JR, Burns JM, Buxbaum JD, Cairns NJ, Cao C, Carlson CS, Carlsson CM, Carney RM, Carrasquillo MM, Carroll SL, Diaz CC, Chui HC, Clark DG, Cribbs DH, Crocco EA, DeCarli C, Dick M, Duara R, Evans DA, Faber KM, Fallon KB, Fardo DW, Farlow MR, Ferris S, Foroud TM, Galasko DR, Gearing M, Geschwind DH, Gilbert JR, Graff-Radford NR, Green RC, Growdon JH, Hamilton RL, Harrell LE, Honig LS, Huentelman MJ, Hulette CM, Hyman BT, Jarvik GP, Abner E, Jin LW, Jun G, Karydas A, Kaye JA, Kim R, Kowall NW, Kramer JH, LaFerla FM, Lah JJ, Leverenz JB, Levey AI, Li G, Lieberman AP, Lunetta KL, Lyketsos CG, Marson DC, Martiniuk F, Mash DC, Masliah E, McCormick WC, McCurry SM, McDavid AN, McKee AC, Mesulam M, Miller BL, Miller CA, Miller JW, Morris JC, Murrell JR, Myers AJ, O'Bryant S, Olichney JM, Pankratz VS, Parisi JE, Paulson HL, Perry W, Peskind E, Pierce A, Poon WW, Potter H, Quinn JF, Raj A, Raskind M, Reisberg B, Reitz C, Ringman JM, Roberson ED, Rogaeva E, Rosen HJ, Rosenberg RN, Sager MA, Saykin AJ, Schneider JA, Schneider LS, Seeley WW, Smith AG, Sonnen JA, Spina S, Stern RA, Swerdlow RH, Tanzi RE, Thornton-Wells TA, Trojanowski JQ, Troncoso JC, Van Deerlin VM, Van Eldik LJ, Vinters HV, Vonsattel JP, Weintraub S, Welsh-Bohmer KA, Wilhelmsen KC, Williamson J, Wingo TS, Woltjer RL, Wright CB, Yu CE, Yu L, Garzia F, Golamaully F, Septier G, Engelborghs S, Vandenberghe R, De Deyn PP, Fernadez CM, Benito YA, Thonberg H, Forsell C, Lilius L, Kinhult-Stählbom A, Kilander L, Brundin R, Concari L, Helisalmi S, Koivisto AM, Haapasalo A, Dermecourt V, Fievet N, Hanon O, Dufouil C, Brice A, Ritchie K, Dubois B, Himali JJ, Keene CD, Tschanz J, Fitzpatrick AL, Kukull WA, Norton M, Aspelund T, Larson EB, Munger R, et al. Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease.. Nature genetics, 2017.
• Singh T, Walters JTR, Johnstone M, Curtis D, Suvisaari J, Torniainen M, Rees E, Iyegbe C, Blackwood D, McIntosh AM, Kirov G, Geschwind D, Murray RM, Di Forti M, Bramon E, Gandal M, Hultman CM, Sklar P, INTERVAL Study, UK10K Consortium, Palotie A, Sullivan PF, O'Donovan MC, Owen MJ, Barrett JC. The contribution of rare variants to risk of schizophrenia in individuals with and without intellectual disability.. Nature genetics, 2017.
• Cantor RM, Navarro L, Won H, Walker RL, Lowe JK, Geschwind DH. ASD restricted and repetitive behaviors associated at 17q21.33: genes prioritized by expression in fetal brains.. Molecular psychiatry, 2017.
• Lu AT, Hannon E, Levine ME, Crimmins EM, Lunnon K, Mill J, Geschwind DH, Horvath S. Genetic architecture of epigenetic and neuronal ageing rates in human brain regions.. Nature communications, 2017.
• Hinz FI, Geschwind DH. Molecular Genetics of Neurodegenerative Dementias.. Cold Spring Harbor perspectives in biology, 2017.
• Lopez A, Lee SE, Wojta K, Ramos EM, Klein E, Chen J, Boxer AL, Gorno-Tempini ML, Geschwind DH, Schlotawa L, Ogryzko NV, Bigio EH, Rogalski E, Weintraub S, Mesulam MM, Tauopathy Genetics Consortium, Fleming A, Coppola G, Miller BL, Rubinsztein DC. A152T tau allele causes neurodegeneration that can be ameliorated in a zebrafish model by autophagy induction.. Brain : a journal of neurology, 2017.
• Ercan E, Han JM, Di Nardo A, Winden K, Han MJ, Hoyo L, Saffari A, Leask A, Geschwind DH, Sahin M. Neuronal CTGF/CCN2 negatively regulates myelination in a mouse model of tuberous sclerosis complex.. The Journal of experimental medicine, 2017.
• Seyfried NT, Dammer EB, Swarup V, Nandakumar D, Duong DM, Yin L, Deng Q, Nguyen T, Hales CM, Wingo T, Glass J, Gearing M, Thambisetty M, Troncoso JC, Geschwind DH, Lah JJ, Levey AI. A Multi-network Approach Identifies Protein-Specific Co-expression in Asymptomatic and Symptomatic Alzheimer's Disease.. Cell systems, 2016.
• Lee SE, Sias AC, Mandelli ML, Brown JA, Brown AB, Khazenzon AM, Vidovszky AA, Zanto TP, Karydas AM, Pribadi M, Dokuru D, Coppola G, Geschwind DH, Rademakers R, Gorno-Tempini ML, Rosen HJ, Miller BL, Seeley WW. Network degeneration and dysfunction in presymptomatic C9ORF72 expansion carriers.. NeuroImage. Clinical, 2016.
• Parikshak NN, Swarup V, Belgard TG, Irimia M, Ramaswami G, Gandal MJ, Hartl C, Leppa V, Ubieta LT, Huang J, Lowe JK, Blencowe BJ, Horvath S, Geschwind DH. Genome-wide changes in lncRNA, splicing, and regional gene expression patterns in autism.. Nature, 2016.
• Sun W, Poschmann J, Cruz-Herrera Del Rosario R, Parikshak NN, Hajan HS, Kumar V, Ramasamy R, Belgard TG, Elanggovan B, Wong CCY, Mill J, Geschwind DH, Prabhakar S. Histone Acetylome-wide Association Study of Autism Spectrum Disorder.. Cell, 2016.
• Hernandez LM, Krasileva K, Green SA, Sherman LE, Ponting C, McCarron R, Lowe JK, Geschwind DH, Bookheimer SY, Dapretto M. Additive effects of oxytocin receptor gene polymorphisms on reward circuitry in youth with autism.. Molecular psychiatry, 2016.
• Sharon G, Sampson TR, Geschwind DH, Mazmanian SK. The Central Nervous System and the Gut Microbiome.. Cell, 2016.
• Miller ZA, Sturm VE, Camsari GB, Karydas A, Yokoyama JS, Grinberg LT, Boxer AL, Rosen HJ, Rankin KP, Gorno-Tempini ML, Coppola G, Geschwind DH, Rademakers R, Seeley WW, Graff-Radford NR, Miller BL. Increased prevalence of autoimmune disease within C9 and FTD/MND cohorts: Completing the picture.. Neurology(R) neuroimmunology & neuroinflammation, 2016.
• Gandal MJ, Leppa V, Won H, Parikshak NN, Geschwind DH. The road to precision psychiatry: translating genetics into disease mechanisms.. Nature neuroscience, 2016.
• Vatsavayai SC, Yoon SJ, Gardner RC, Gendron TF, Vargas JN, Trujillo A, Pribadi M, Phillips JJ, Gaus SE, Hixson JD, Garcia PA, Rabinovici GD, Coppola G, Geschwind DH, Petrucelli L, Miller BL, Seeley WW. Timing and significance of pathological features in C9orf72 expansion-associated frontotemporal dementia.. Brain : a journal of neurology, 2016.
• Won H, de la Torre-Ubieta L, Stein JL, Parikshak NN, Huang J, Opland CK, Gandal MJ, Sutton GJ, Hormozdiari F, Lu D, Lee C, Eskin E, Voineagu I, Ernst J, Geschwind DH. Chromosome conformation elucidates regulatory relationships in developing human brain.. Nature, 2016.
• Ranasinghe KG, Rankin KP, Pressman PS, Perry DC, Lobach IV, Seeley WW, Coppola G, Karydas AM, Grinberg LT, Shany-Ur T, Lee SE, Rabinovici GD, Rosen HJ, Gorno-Tempini ML, Boxer AL, Miller ZA, Chiong W, DeMay M, Kramer JH, Possin KL, Sturm VE, Bettcher BM, Neylan M, Zackey DD, Nguyen LA, Ketelle R, Block N, Wu TQ, Dallich A, Russek N, Caplan A, Geschwind DH, Vossel KA, Miller BL. Distinct Subtypes of Behavioral Variant Frontotemporal Dementia Based on Patterns of Network Degeneration.. JAMA neurology, 2016.
• Silva MC, Cheng C, Mair W, Almeida S, Fong H, Biswas MHU, Zhang Z, Huang Y, Temple S, Coppola G, Geschwind DH, Karydas A, Miller BL, Kosik KS, Gao FB, Steen JA, Haggarty SJ. Human iPSC-Derived Neuronal Model of Tau-A152T Frontotemporal Dementia Reveals Tau-Mediated Mechanisms of Neuronal Vulnerability.. Stem cell reports, 2016.
• Wu YE, Parikshak NN, Belgard TG, Geschwind DH. Genome-wide, integrative analysis implicates microRNA dysregulation in autism spectrum disorder.. Nature neuroscience, 2016.
• Leppa VM, Kravitz SN, Martin CL, Andrieux J, Le Caignec C, Martin-Coignard D, DyBuncio C, Sanders SJ, Lowe JK, Cantor RM, Geschwind DH. Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families.. American journal of human genetics, 2016.
• Carter CS, Bearden CE, Bullmore ET, Geschwind DH, Glahn DC, Gur RE, Meyer-Lindenberg A, Weinberger DR. Enhancing the Informativeness and Replicability of Imaging Genomics Studies.. Biological psychiatry, 2016.
• Chiocchetti AG, Haslinger D, Stein JL, de la Torre-Ubieta L, Cocchi E, Rothämel T, Lindlar S, Waltes R, Fulda S, Geschwind DH, Freitag CM. Transcriptomic signatures of neuronal differentiation and their association with risk genes for autism spectrum and related neuropsychiatric disorders.. Translational psychiatry, 2016.
• Marchetto MC, Belinson H, Tian Y, Freitas BC, Fu C, Vadodaria K, Beltrao-Braga P, Trujillo CA, Mendes APD, Padmanabhan K, Nunez Y, Ou J, Ghosh H, Wright R, Brennand K, Pierce K, Eichenfield L, Pramparo T, Eyler L, Barnes CC, Courchesne E, Geschwind DH, Gage FH, Wynshaw-Boris A, Muotri AR. Altered proliferation and networks in neural cells derived from idiopathic autistic individuals.. Molecular psychiatry, 2016.
• Krystal JH, Abi-Dargham A, Barch DM, Bullmore ET, Carter CS, Geschwind DH, Harrison PJ, Nestler EJ, Stein MB. Biological Psychiatry and Biological Psychiatry: Cognitive Neuroscience and Neuroimaging Adopt Neuroscience-Based Nomenclature.. Biological psychiatry, 2016.
• Krystal JH, Abi-Dargham A, Barch DM, Bullmore ET, Carter CS, Geschwind DH, Harrison PJ, Nestler EJ, Stein MB. Biological Psychiatry and Biological Psychiatry: Cognitive Neuroscience and Neuroimaging Adopt Neuroscience-Based Nomenclature.. Biological psychiatry. Cognitive neuroscience and neuroimaging, 2016.
• Bagot RC, Cates HM, Purushothaman I, Lorsch ZS, Walker DM, Wang J, Huang X, Schlüter OM, Maze I, Peña CJ, Heller EA, Issler O, Wang M, Song WM, Stein JL, Liu X, Doyle MA, Scobie KN, Sun HS, Neve RL, Geschwind D, Dong Y, Shen L, Zhang B, Nestler EJ. Circuit-wide Transcriptional Profiling Reveals Brain Region-Specific Gene Networks Regulating Depression Susceptibility.. Neuron, 2016.
• Omura T, Omura K, Tedeschi A, Riva P, Painter MW, Rojas L, Martin J, Lisi V, Huebner EA, Latremoliere A, Yin Y, Barrett LB, Singh B, Lee S, Crisman T, Gao F, Li S, Kapur K, Geschwind DH, Kosik KS, Coppola G, He Z, Carmichael ST, Benowitz LI, Costigan M, Woolf CJ. Robust Axonal Regeneration Occurs in the Injured CAST/Ei Mouse CNS.. Neuron, 2016.
• Gandal MJ, Geschwind DH. The Genetics-Driven Revival in Neuropsychiatric Drug Development.. Biological psychiatry, 2016.
• de la Torre-Ubieta L, Won H, Stein JL, Geschwind DH. Advancing the understanding of autism disease mechanisms through genetics.. Nature medicine, 2016.
• Ruzzo EK, Geschwind DH. Schizophrenia genetics complements its mechanistic understanding.. Nature neuroscience, 2016.
• Singh T, Kurki MI, Curtis D, Purcell SM, Crooks L, McRae J, Suvisaari J, Chheda H, Blackwood D, Breen G, Pietiläinen O, Gerety SS, Ayub M, Blyth M, Cole T, Collier D, Coomber EL, Craddock N, Daly MJ, Danesh J, DiForti M, Foster A, Freimer NB, Geschwind D, Johnstone M, Joss S, Kirov G, Körkkö J, Kuismin O, Holmans P, Hultman CM, Iyegbe C, Lönnqvist J, Männikkö M, McCarroll SA, McGuffin P, McIntosh AM, McQuillin A, Moilanen JS, Moore C, Murray RM, Newbury-Ecob R, Ouwehand W, Paunio T, Prigmore E, Rees E, Roberts D, Sambrook J, Sklar P, St Clair D, Veijola J, Walters JT, Williams H, Swedish Schizophrenia Study, INTERVAL Study, DDD Study, UK10 K Consortium, Sullivan PF, Hurles ME, O'Donovan MC, Palotie A, Owen MJ, Barrett JC. Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders.. Nature neuroscience, 2016.
• Werling DM, Parikshak NN, Geschwind DH. Gene expression in human brain implicates sexually dimorphic pathways in autism spectrum disorders.. Nature communications, 2016.
• Chandran V, Coppola G, Nawabi H, Omura T, Versano R, Huebner EA, Zhang A, Costigan M, Yekkirala A, Barrett L, Blesch A, Michaelevski I, Davis-Turak J, Gao F, Langfelder P, Horvath S, He Z, Benowitz L, Fainzilber M, Tuszynski M, Woolf CJ, Geschwind DH. A Systems-Level Analysis of the Peripheral Nerve Intrinsic Axonal Growth Program.. Neuron, 2016.
• Jeste SS, Geschwind DH. Clinical trials for neurodevelopmental disorders: At a therapeutic frontier.. Science translational medicine, 2016.
• Lee JA, Damianov A, Lin CH, Fontes M, Parikshak NN, Anderson ES, Geschwind DH, Black DL, Martin KC. Cytoplasmic Rbfox1 Regulates the Expression of Synaptic and Autism-Related Genes.. Neuron, 2015.
• PsychENCODE Consortium, Akbarian S, Liu C, Knowles JA, Vaccarino FM, Farnham PJ, Crawford GE, Jaffe AE, Pinto D, Dracheva S, Geschwind DH, Mill J, Nairn AC, Abyzov A, Pochareddy S, Prabhakar S, Weissman S, Sullivan PF, State MW, Weng Z, Peters MA, White KP, Gerstein MB, Amiri A, Armoskus C, Ashley-Koch AE, Bae T, Beckel-Mitchener A, Berman BP, Coetzee GA, Coppola G, Francoeur N, Fromer M, Gao R, Grennan K, Herstein J, Kavanagh DH, Ivanov NA, Jiang Y, Kitchen RR, Kozlenkov A, Kundakovic M, Li M, Li Z, Liu S, Mangravite LM, Mattei E, Markenscoff-Papadimitriou E, Navarro FC, North N, Omberg L, Panchision D, Parikshak N, Poschmann J, Price AJ, Purcaro M, Reddy TE, Roussos P, Schreiner S, Scuderi S, Sebra R, Shibata M, Shieh AW, Skarica M, Sun W, Swarup V, Thomas A, Tsuji J, van Bakel H, Wang D, Wang Y, Wang K, Werling DM, Willsey AJ, Witt H, Won H, Wong CC, Wray GA, Wu EY, Xu X, Yao L, Senthil G, Lehner T, Sklar P, Sestan N. The PsychENCODE project.. Nature neuroscience, 2015.
• Berg JM, Lee C, Chen L, Galvan L, Cepeda C, Chen JY, Peñagarikano O, Stein JL, Li A, Oguro-Ando A, Miller JA, Vashisht AA, Starks ME, Kite EP, Tam E, Gdalyahu A, Al-Sharif NB, Burkett ZD, White SA, Fears SC, Levine MS, Wohlschlegel JA, Geschwind DH. JAKMIP1, a Novel Regulator of Neuronal Translation, Modulates Synaptic Function and Autistic-like Behaviors in Mouse.. Neuron, 2015.
• Wang GZ, Belgard TG, Mao D, Chen L, Berto S, Preuss TM, Lu H, Geschwind DH, Konopka G. Correspondence between Resting-State Activity and Brain Gene Expression.. Neuron, 2015.
• Ng AS, Sias AC, Pressman PS, Fong JC, Karydas AM, Zanto TP, De May M, Coppola G, Geschwind DH, Miller BL, Lee SE. Young-onset frontotemporal dementia in a homozygous tau R406W mutation carrier.. Annals of clinical and translational neurology, 2015.
• Wei D, Lee D, Cox CD, Karsten CA, Peñagarikano O, Geschwind DH, Gall CM, Piomelli D. Endocannabinoid signaling mediates oxytocin-driven social reward.. Proceedings of the National Academy of Sciences of the United States of America, 2015.
• Geschwind DH, Flint J. Genetics and genomics of psychiatric disease.. Science (New York, N.Y.), 2015.
• Sanders SJ, He X, Willsey AJ, Ercan-Sencicek AG, Samocha KE, Cicek AE, Murtha MT, Bal VH, Bishop SL, Dong S, Goldberg AP, Jinlu C, Keaney JF, Klei L, Mandell JD, Moreno-De-Luca D, Poultney CS, Robinson EB, Smith L, Solli-Nowlan T, Su MY, Teran NA, Walker MF, Werling DM, Beaudet AL, Cantor RM, Fombonne E, Geschwind DH, Grice DE, Lord C, Lowe JK, Mane SM, Martin DM, Morrow EM, Talkowski ME, Sutcliffe JS, Walsh CA, Yu TW, Autism Sequencing Consortium, Ledbetter DH, Martin CL, Cook EH, Buxbaum JD, Daly MJ, Devlin B, Roeder K, State MW. Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci.. Neuron, 2015.
• Prusiner SB, Woerman AL, Mordes DA, Watts JC, Rampersaud R, Berry DB, Patel S, Oehler A, Lowe JK, Kravitz SN, Geschwind DH, Glidden DV, Halliday GM, Middleton LT, Gentleman SM, Grinberg LT, Giles K. Evidence for α-synuclein prions causing multiple system atrophy in humans with parkinsonism.. Proceedings of the National Academy of Sciences of the United States of America, 2015.
• Sha SJ, Khazenzon AM, Ghosh PM, Rankin KP, Pribadi M, Coppola G, Geschwind DH, Rabinovici GD, Miller BL, Lee SE. Early-onset Alzheimer's disease versus frontotemporal dementia: resolution with genetic diagnoses?. Neurocase, 2015.
• Jalbrzikowski M, Lazaro MT, Gao F, Huang A, Chow C, Geschwind DH, Coppola G, Bearden CE. Transcriptome Profiling of Peripheral Blood in 22q11.2 Deletion Syndrome Reveals Functional Pathways Related to Psychosis and Autism Spectrum Disorder.. PloS one, 2015.
• Kloth AD, Badura A, Li A, Cherskov A, Connolly SG, Giovannucci A, Bangash MA, Grasselli G, Peñagarikano O, Piochon C, Tsai PT, Geschwind DH, Hansel C, Sahin M, Takumi T, Worley PF, Wang SS. Cerebellar associative sensory learning defects in five mouse autism models.. eLife, 2015.
• Parikshak NN, Gandal MJ, Geschwind DH. Systems biology and gene networks in neurodevelopmental and neurodegenerative disorders.. Nature reviews. Genetics, 2015.
• Nicolas G, Charbonnier C, de Lemos RR, Richard AC, Guillin O, Wallon D, Legati A, Geschwind D, Coppola G, Frebourg T, Campion D, de Oliveira JR, Hannequin D, collaborators from the French IBGC study Group. Brain calcification process and phenotypes according to age and sex: Lessons from SLC20A2, PDGFB, and PDGFRB mutation carriers.. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics, 2015.
• Mesquita SD, Ferreira AC, Gao F, Coppola G, Geschwind DH, Sousa JC, Correia-Neves M, Sousa N, Palha JA, Marques F. The choroid plexus transcriptome reveals changes in type I and II interferon responses in a mouse model of Alzheimer's disease.. Brain, behavior, and immunity, 2015.
• Gdalyahu A, Lazaro M, Penagarikano O, Golshani P, Trachtenberg JT, Geschwind DH. Correction: The Autism Related Protein Contactin-Associated Protein-Like 2 (CNTNAP2) Stabilizes New Spines: An In Vivo Mouse Study.. PloS one, 2015.
• Burkett ZD, Day NF, Peñagarikano O, Geschwind DH, White SA. VoICE: A semi-automated pipeline for standardizing vocal analysis across models.. Scientific reports, 2015.
• Pasca AM, Sloan SA, Clarke LE, Tian Y, Makinson CD, Huber N, Kim CH, Park JY, O'Rourke NA, Nguyen KD, Smith SJ, Huguenard JR, Geschwind DH, Barres BA, Pasca SP. Functional cortical neurons and astrocytes from human pluripotent stem cells in 3D culture.. Nature methods, 2015.
• Omura T, Omura K, Tedeschi A, Riva P, Painter MW, Rojas L, Martin J, Lisi V, Huebner EA, Latremoliere A, Yin Y, Barrett LB, Singh B, Lee S, Crisman T, Gao F, Li S, Kapur K, Geschwind DH, Kosik KS, Coppola G, He Z, Carmichael ST, Benowitz LI, Costigan M, Woolf CJ. Robust Axonal Regeneration Occurs in the Injured CAST/Ei Mouse CNS.. Neuron, 2015.
• Werling DM, Geschwind DH. Recurrence rates provide evidence for sex-differential, familial genetic liability for autism spectrum disorders in multiplex families and twins.. Molecular autism, 2015.
• Bakken TE, Miller JA, Luo R, Bernard A, Bennett JL, Lee CK, Bertagnolli D, Parikshak NN, Smith KA, Sunkin SM, Amaral DG, Geschwind DH, Lein ES. Spatiotemporal dynamics of the postnatal developing primate brain transcriptome.. Human molecular genetics, 2015.
• Gdalyahu A, Lazaro M, Penagarikano O, Golshani P, Trachtenberg JT, Geschwind DH, Gescwind DH. The Autism Related Protein Contactin-Associated Protein-Like 2 (CNTNAP2) Stabilizes New Spines: An In Vivo Mouse Study.. PloS one, 2015.
• Legati A, Giovannini D, Nicolas G, López-Sánchez U, Quintáns B, Oliveira JR, Sears RL, Ramos EM, Spiteri E, Sobrido MJ, Carracedo Á, Castro-Fernández C, Cubizolle S, Fogel BL, Goizet C, Jen JC, Kirdlarp S, Lang AE, Miedzybrodzka Z, Mitarnun W, Paucar M, Paulson H, Pariente J, Richard AC, Salins NS, Simpson SA, Striano P, Svenningsson P, Tison F, Unni VK, Vanakker O, Wessels MW, Wetchaphanphesat S, Yang M, Boller F, Campion D, Hannequin D, Sitbon M, Geschwind DH, Battini JL, Coppola G. Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export.. Nature genetics, 2015.
• Yu H, Su Y, Shin J, Zhong C, Guo JU, Weng YL, Gao F, Geschwind DH, Coppola G, Ming GL, Song H. Tet3 regulates synaptic transmission and homeostatic plasticity via DNA oxidation and repair.. Nature neuroscience, 2015.
• Raposo M, Bettencourt C, Maciel P, Gao F, Ramos A, Kazachkova N, Vasconcelos J, Kay T, Rodrigues AJ, Bettencourt B, Bruges-Armas J, Geschwind D, Coppola G, Lima M. Novel candidate blood-based transcriptional biomarkers of Machado-Joseph disease.. Movement disorders : official journal of the Movement Disorder Society, 2015.
• Geschwind DH, State MW. Gene hunting in autism spectrum disorder: on the path to precision medicine.. The Lancet. Neurology, 2015.
• Chen JA, Wang Q, Davis-Turak J, Li Y, Karydas AM, Hsu SC, Sears RL, Chatzopoulou D, Huang AY, Wojta KJ, Klein E, Lee J, Beekly DL, Boxer A, Faber KM, Haase CM, Miller J, Poon WW, Rosen A, Rosen H, Sapozhnikova A, Shapira J, Varpetian A, Foroud TM, Levenson RW, Levey AI, Kukull WA, Mendez MF, Ringman J, Chui H, Cotman C, DeCarli C, Miller BL, Geschwind DH, Coppola G. A multiancestral genome-wide exome array study of Alzheimer disease, frontotemporal dementia, and progressive supranuclear palsy.. JAMA neurology, 2015.
• Jeste SS, Geschwind DH. Developmental disorders.. Current opinion in neurology, 2015.
• Winden KD, Bragin A, Engel J, Geschwind DH. Molecular alterations in areas generating fast ripples in an animal model of temporal lobe epilepsy.. Neurobiology of disease, 2015.
• Martinez RA, Stein JL, Krostag AR, Nelson AM, Marken JS, Menon V, May RC, Yao Z, Kaykas A, Geschwind DH, Grimley JS. Genome engineering of isogenic human ES cells to model autism disorders.. Nucleic acids research, 2015.
• Geschwind DH. Introduction to the year in neurology and psychiatry.. Annals of the New York Academy of Sciences, 2015.
• Ellegood J, Anagnostou E, Babineau BA, Crawley JN, Lin L, Genestine M, DiCicco-Bloom E, Lai JK, Foster JA, Peñagarikano O, Geschwind DH, Pacey LK, Hampson DR, Laliberté CL, Mills AA, Tam E, Osborne LR, Kouser M, Espinosa-Becerra F, Xuan Z, Powell CM, Raznahan A, Robins DM, Nakai N, Nakatani J, Takumi T, van Eede MC, Kerr TM, Muller C, Blakely RD, Veenstra-VanderWeele J, Henkelman RM, Lerch JP. 3D visualization of the regional differences.. Molecular psychiatry, 2015.
• Wang LS, Naj AC, Graham RR, Crane PK, Kunkle BW, Cruchaga C, Murcia JD, Cannon-Albright L, Baldwin CT, Zetterberg H, Blennow K, Kukull WA, Faber KM, Schupf N, Norton MC, Tschanz JT, Munger RG, Corcoran CD, Rogaeva E, Alzheimer's Disease Genetics Consortium, Lin CF, Dombroski BA, Cantwell LB, Partch A, Valladares O, Hakonarson H, St George-Hyslop P, Green RC, Goate AM, Foroud TM, Carney RM, Larson EB, Behrens TW, Kauwe JS, Haines JL, Farrer LA, Pericak-Vance MA, Mayeux R, Schellenberg GD, National Institute on Aging-Late-Onset Alzheimer’s Disease (NIA-LOAD) Family Study, Albert MS, Albin RL, Apostolova LG, Arnold SE, Barber R, Barmada M, Barnes LL, Beach TG, Becker JT, Beecham GW, Beekly D, Bennett DA, Bigio EH, Bird TD, Blacker D, Boeve BF, Bowen JD, Boxer A, Burke JR, Buxbaum JD, Cairns NJ, Cao C, Carlson CS, Carroll SL, Chui HC, Clark DG, Cribbs DH, Crocco EA, DeCarli C, DeKosky ST, Demirci FY, Dick M, Dickson DW, Duara R, Ertekin-Taner N, Fallon KB, Farlow MR, Ferris S, Frosch MP, Galasko DR, Ganguli M, Gearing M, Geschwind DH, Ghetti B, Gilbert JR, Glass JD, Graff-Radford NR, Growdon JH, Hamilton RL, Hamilton-Nelson KL, Harrell LE, Head E, Honig LS, Hulette CM, Hyman BT, Jarvik GP, Jicha GA, Jin LW, Jun G, Jun G, Kamboh MI, Karydas A, Kaye JA, Kim R, Koo EH, Kowall NW, Kramer JH, LaFerla FM, Lah JJ, Leverenz JB, Levey AI, Li G, Lieberman AP, Lopez OL, Lunetta KL, Lyketsos CG, Mack WJ, Marson DC, Martin ER, Martiniuk F, Mash DC, Masliah E, McCormick WC, McCurry SM, McDavid AN, McKee AC, Mesulam WM, Miller BL, Miller CA, Miller JW, Montine TJ, Morris JC, Murrell JR, Olichney JM, Parisi JE, Perry W, Peskind E, Petersen RC, Pierce A, Poon WW, Potter H, Quinn JF, Raj A, Raskind M, Reiman EM, Reisberg B, Reitz C, Ringman JM, Roberson ED, Rosen HJ, Rosenberg RN, Sano M, Saykin AJ, Schneider JA, Schneider LS, Seeley WW, Smith AG, Sonnen JA, Spina S, Stern RA, Tanzi RE, Thornton-Wells TA, Trojanowski JQ, Troncoso JC, Tsuang DW, Van Deerlin VM, Van Eldik LJ, Vardarajan BN, Vinters HV, Vonsattel JP, Weintraub S, Welsh-Bohmer KA, Williamson J, Wishnek S, Woltjer RL, Wright CB, Younkin SG, Yu CE, Yu L. Rarity of the Alzheimer disease-protective APP A673T variant in the United States.. JAMA neurology, 2015.
• Peñagarikano O, Lázaro MT, Lu XH, Gordon A, Dong H, Lam HA, Peles E, Maidment NT, Murphy NP, Yang XW, Golshani P, Geschwind DH. Exogenous and evoked oxytocin restores social behavior in the Cntnap2 mouse model of autism.. Science translational medicine, 2015.
• State MW, Geschwind DH. Leveraging genetics and genomics to define the causes of mental illness.. Biological psychiatry, 2015.
• Chiam JT, Lunnon K, Voyle N, Proitsi P, Coppola G, Geschwind D, Nelson S, Johnston C, Soininen H, Kloszewska I, Mecocci P, Tsolaki M, Vellas B, Hodges A, Lovestone S, Newhouse S, Dobson RJ, Kiddle SJ, Sattlecker M. No Evidence to Suggest that the Use of Acetylcholinesterase Inhibitors Confounds the Results of Two Blood-Based Biomarker Studies in Alzheimer's Disease.. Journal of Alzheimer's disease : JAD, 2015.
• Chen JA, Peñagarikano O, Belgard TG, Swarup V, Geschwind DH. The emerging picture of autism spectrum disorder: genetics and pathology.. Annual review of pathology, 2015.
• Irimia M, Weatheritt RJ, Ellis JD, Parikshak NN, Gonatopoulos-Pournatzis T, Babor M, Quesnel-Vallières M, Tapial J, Raj B, O'Hanlon D, Barrios-Rodiles M, Sternberg MJ, Cordes SP, Roth FP, Wrana JL, Geschwind DH, Blencowe BJ. A highly conserved program of neuronal microexons is misregulated in autistic brains.. Cell, 2014.
• Lowe JK, Werling DM, Constantino JN, Cantor RM, Geschwind DH. Social responsiveness, an autism endophenotype: genomewide significant linkage to two regions on chromosome 8.. The American journal of psychiatry, 2014.
• Naj AC, Jun G, Reitz C, Kunkle BW, Perry W, Park YS, Beecham GW, Rajbhandary RA, Hamilton-Nelson KL, Wang LS, Kauwe JS, Huentelman MJ, Myers AJ, Bird TD, Boeve BF, Baldwin CT, Jarvik GP, Crane PK, Rogaeva E, Barmada MM, Demirci FY, Cruchaga C, Kramer PL, Ertekin-Taner N, Hardy J, Graff-Radford NR, Green RC, Larson EB, St George-Hyslop PH, Buxbaum JD, Evans DA, Schneider JA, Lunetta KL, Kamboh MI, Saykin AJ, Reiman EM, De Jager PL, Bennett DA, Morris JC, Montine TJ, Goate AM, Blacker D, Tsuang DW, Hakonarson H, Kukull WA, Foroud TM, Martin ER, Haines JL, Mayeux RP, Farrer LA, Schellenberg GD, Pericak-Vance MA, Alzheimer Disease Genetics Consortium, Albert MS, Albin RL, Apostolova LG, Arnold SE, Barber R, Barnes LL, Beach TG, Becker JT, Beekly D, Bigio EH, Bowen JD, Boxer A, Burke JR, Cairns NJ, Cantwell LB, Cao C, Carlson CS, Carney RM, Carrasquillo MM, Carroll SL, Chui HC, Clark DG, Corneveaux J, Cribbs DH, Crocco EA, DeCarli C, DeKosky ST, Dick M, Dickson DW, Duara R, Faber KM, Fallon KB, Farlow MR, Ferris S, Frosch MP, Galasko DR, Ganguli M, Gearing M, Geschwind DH, Ghetti B, Gilbert JR, Glass JD, Growdon JH, Hamilton RL, Harrell LE, Head E, Honig LS, Hulette CM, Hyman BT, Jicha GA, Jin LW, Karydas A, Kaye JA, Kim R, Koo EH, Kowall NW, Kramer JH, LaFerla FM, Lah JJ, Leverenz JB, Levey AI, Li G, Lieberman AP, Lin CF, Lopez OL, Lyketsos CG, Mack WJ, Martiniuk F, Mash DC, Masliah E, McCormick WC, McCurry SM, McDavid AN, McKee AC, Mesulam M, Miller BL, Miller CA, Miller JW, Murrell JR, Olichney JM, Pankratz VS, Parisi JE, Paulson HL, Peskind E, Petersen RC, Pierce A, Poon WW, Potter H, Quinn JF, Raj A, Raskind M, Reisberg B, Ringman JM, Roberson ED, Rosen HJ, Rosenberg RN, Sano M, Schneider LS, Seeley WW, Smith AG, Sonnen JA, Spina S, Stern RA, Tanzi RE, Thornton-Wells TA, Trojanowski JQ, Troncoso JC, Valladares O, Van Deerlin VM, Van Eldik LJ, Vardarajan BN, Vinters HV, Vonsattel JP, Weintraub S, Welsh-Bohmer KA, Williamson J, Wishnek S, Woltjer RL, Wright CB, Younkin SG, Yu CE, Yu L. Effects of multiple genetic loci on age at onset in late-onset Alzheimer disease: a genome-wide association study.. JAMA neurology, 2014.
• Oguro-Ando A, Rosensweig C, Herman E, Nishimura Y, Werling D, Bill BR, Berg JM, Gao F, Coppola G, Abrahams BS, Geschwind DH. Increased CYFIP1 dosage alters cellular and dendritic morphology and dysregulates mTOR.. Molecular psychiatry, 2014.
• Tian Y, Voineagu I, Pasca SP, Won H, Chandran V, Horvath S, Dolmetsch RE, Geschwind DH. Alteration in basal and depolarization induced transcriptional network in iPSC derived neurons from Timothy syndrome.. Genome medicine, 2014.
• Lee SE, Khazenzon AM, Trujillo AJ, Guo CC, Yokoyama JS, Sha SJ, Takada LT, Karydas AM, Block NR, Coppola G, Pribadi M, Geschwind DH, Rademakers R, Fong JC, Weiner MW, Boxer AL, Kramer JH, Rosen HJ, Miller BL, Seeley WW. Altered network connectivity in frontotemporal dementia with C9orf72 hexanucleotide repeat expansion.. Brain : a journal of neurology, 2014.
• Fogel BL, Lee H, Deignan JL, Strom SP, Kantarci S, Wang X, Quintero-Rivera F, Vilain E, Grody WW, Perlman S, Geschwind DH, Nelson SF. Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia.. JAMA neurology, 2014.
• Chaste P, Klei L, Sanders SJ, Hus V, Murtha MT, Lowe JK, Willsey AJ, Moreno-De-Luca D, Yu TW, Fombonne E, Geschwind D, Grice DE, Ledbetter DH, Mane SM, Martin DM, Morrow EM, Walsh CA, Sutcliffe JS, Lese Martin C, Beaudet AL, Lord C, State MW, Cook EH, Devlin B. A genome-wide association study of autism using the Simons Simplex Collection: Does reducing phenotypic heterogeneity in autism increase genetic homogeneity?. Biological psychiatry, 2014.
• Ellegood J, Anagnostou E, Babineau BA, Crawley JN, Lin L, Genestine M, DiCicco-Bloom E, Lai JK, Foster JA, Peñagarikano O, Geschwind DH, Pacey LK, Hampson DR, Laliberté CL, Mills AA, Tam E, Osborne LR, Kouser M, Espinosa-Becerra F, Xuan Z, Powell CM, Raznahan A, Robins DM, Nakai N, Nakatani J, Takumi T, van Eede MC, Kerr TM, Muller C, Blakely RD, Veenstra-VanderWeele J, Henkelman RM, Lerch JP. Clustering autism: using neuroanatomical differences in 26 mouse models to gain insight into the heterogeneity.. Molecular psychiatry, 2014.
• Stein JL, de la Torre-Ubieta L, Tian Y, Parikshak NN, Hernández IA, Marchetto MC, Baker DK, Lu D, Hinman CR, Lowe JK, Wexler EM, Muotri AR, Gage FH, Kosik KS, Geschwind DH. A quantitative framework to evaluate modeling of cortical development by neural stem cells.. Neuron, 2014.
• Fogel BL, Clark MC, Geschwind DH. The neurogenetics of atypical parkinsonian disorders.. Seminars in neurology, 2014.
• Buxbaum JD, Bolshakova N, Brownfeld JM, Anney RJ, Bender P, Bernier R, Cook EH, Coon H, Cuccaro M, Freitag CM, Hallmayer J, Geschwind D, Klauck SM, Nurnberger JI, Oliveira G, Pinto D, Poustka F, Scherer SW, Shih A, Sutcliffe JS, Szatmari P, Vicente AM, Vieland V, Gallagher L. The Autism Simplex Collection: an international, expertly phenotyped autism sample for genetic and phenotypic analyses.. Molecular autism, 2014.
• Chaste P, Sanders SJ, Mohan KN, Klei L, Song Y, Murtha MT, Hus V, Lowe JK, Willsey AJ, Moreno-De-Luca D, Yu TW, Fombonne E, Geschwind D, Grice DE, Ledbetter DH, Lord C, Mane SM, Martin DM, Morrow EM, Walsh CA, Sutcliffe JS, State MW, Martin CL, Devlin B, Beaudet AL, Cook EH, Kim SJ. Modest impact on risk for autism spectrum disorder of rare copy number variants at 15q11.2, specifically breakpoints 1 to 2.. Autism research : official journal of the International Society for Autism Research, 2014.
• Pinto D, Delaby E, Merico D, Barbosa M, Merikangas A, Klei L, Thiruvahindrapuram B, Xu X, Ziman R, Wang Z, Vorstman JA, Thompson A, Regan R, Pilorge M, Pellecchia G, Pagnamenta AT, Oliveira B, Marshall CR, Magalhaes TR, Lowe JK, Howe JL, Griswold AJ, Gilbert J, Duketis E, Dombroski BA, De Jonge MV, Cuccaro M, Crawford EL, Correia CT, Conroy J, Conceição IC, Chiocchetti AG, Casey JP, Cai G, Cabrol C, Bolshakova N, Bacchelli E, Anney R, Gallinger S, Cotterchio M, Casey G, Zwaigenbaum L, Wittemeyer K, Wing K, Wallace S, van Engeland H, Tryfon A, Thomson S, Soorya L, Rogé B, Roberts W, Poustka F, Mouga S, Minshew N, McInnes LA, McGrew SG, Lord C, Leboyer M, Le Couteur AS, Kolevzon A, Jiménez González P, Jacob S, Holt R, Guter S, Green J, Green A, Gillberg C, Fernandez BA, Duque F, Delorme R, Dawson G, Chaste P, Café C, Brennan S, Bourgeron T, Bolton PF, Bölte S, Bernier R, Baird G, Bailey AJ, Anagnostou E, Almeida J, Wijsman EM, Vieland VJ, Vicente AM, Schellenberg GD, Pericak-Vance M, Paterson AD, Parr JR, Oliveira G, Nurnberger JI, Monaco AP, Maestrini E, Klauck SM, Hakonarson H, Haines JL, Geschwind DH, Freitag CM, Folstein SE, Ennis S, Coon H, Battaglia A, Szatmari P, Sutcliffe JS, Hallmayer J, Gill M, Cook EH, Buxbaum JD, Devlin B, Gallagher L, Betancur C, Scherer SW. Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.. American journal of human genetics, 2014.
• Fogel BL, Cho E, Wahnich A, Gao F, Becherel OJ, Wang X, Fike F, Chen L, Criscuolo C, De Michele G, Filla A, Collins A, Hahn AF, Gatti RA, Konopka G, Perlman S, Lavin MF, Geschwind DH, Coppola G. Mutation of senataxin alters disease-specific transcriptional networks in patients with ataxia with oculomotor apraxia type 2.. Human molecular genetics, 2014.
• Correia CT, Conceição IC, Oliveira B, Coelho J, Sousa I, Sequeira AF, Almeida J, Café C, Duque F, Mouga S, Roberts W, Gao K, Lowe JK, Thiruvahindrapuram B, Walker S, Marshall CR, Pinto D, Nurnberger JI, Scherer SW, Geschwind DH, Oliveira G, Vicente AM. Recurrent duplications of the annexin A1 gene (ANXA1) in autism spectrum disorders.. Molecular autism, 2014.
• Miller JA, Ding SL, Sunkin SM, Smith KA, Ng L, Szafer A, Ebbert A, Riley ZL, Royall JJ, Aiona K, Arnold JM, Bennet C, Bertagnolli D, Brouner K, Butler S, Caldejon S, Carey A, Cuhaciyan C, Dalley RA, Dee N, Dolbeare TA, Facer BA, Feng D, Fliss TP, Gee G, Goldy J, Gourley L, Gregor BW, Gu G, Howard RE, Jochim JM, Kuan CL, Lau C, Lee CK, Lee F, Lemon TA, Lesnar P, McMurray B, Mastan N, Mosqueda N, Naluai-Cecchini T, Ngo NK, Nyhus J, Oldre A, Olson E, Parente J, Parker PD, Parry SE, Stevens A, Pletikos M, Reding M, Roll K, Sandman D, Sarreal M, Shapouri S, Shapovalova NV, Shen EH, Sjoquist N, Slaughterbeck CR, Smith M, Sodt AJ, Williams D, Zöllei L, Fischl B, Gerstein MB, Geschwind DH, Glass IA, Hawrylycz MJ, Hevner RF, Huang H, Jones AR, Knowles JA, Levitt P, Phillips JW, Sestan N, Wohnoutka P, Dang C, Bernard A, Hohmann JG, Lein ES. Transcriptional landscape of the prenatal human brain.. Nature, 2014.
• Geschwind D, Nestler EJ. Neurodegenerative dementias: connecting psychiatry and neurology through a shared neurobiology.. Biological psychiatry, 2014.
• Li Y, Chen JA, Sears RL, Gao F, Klein ED, Karydas A, Geschwind MD, Rosen HJ, Boxer AL, Guo W, Pellegrini M, Horvath S, Miller BL, Geschwind DH, Coppola G. An epigenetic signature in peripheral blood associated with the haplotype on 17q21.31, a risk factor for neurodegenerative tauopathy.. PLoS genetics, 2014.
• Werling DM, Lowe JK, Luo R, Cantor RM, Geschwind DH. Replication of linkage at chromosome 20p13 and identification of suggestive sex-differential risk loci for autism spectrum disorder.. Molecular autism, 2014.
• Wright MC, Mi R, Connor E, Reed N, Vyas A, Alspalter M, Coppola G, Geschwind DH, Brushart TM, Höke A. Novel roles for osteopontin and clusterin in peripheral motor and sensory axon regeneration.. The Journal of neuroscience : the official journal of the Society for Neuroscience, 2014.
• Jeste SS, Geschwind DH. Disentangling the heterogeneity of autism spectrum disorder through genetic findings.. Nature reviews. Neurology, 2014.
• Parikshak NN, Luo R, Zhang A, Won H, Lowe JK, Chandran V, Horvath S, Geschwind DH. Integrative functional genomic analyses implicate specific molecular pathways and circuits in autism.. Cell, 2013.
• Geschwind DH, Rakic P. Cortical evolution: judge the brain by its cover.. Neuron, 2013.
• Lee SE, Tartaglia MC, Yener G, Genç S, Seeley WW, Sanchez-Juan P, Moreno F, Mendez MF, Klein E, Rademakers R, López de Munain A, Combarros O, Kramer JH, Kenet RO, Boxer AL, Geschwind MD, Gorno-Tempini ML, Karydas AM, Rabinovici GD, Coppola G, Geschwind DH, Miller BL. Neurodegenerative disease phenotypes in carriers of MAPT p.A152T, a risk factor for frontotemporal dementia spectrum disorders and Alzheimer disease.. Alzheimer disease and associated disorders, 2013.
• van Blitterswijk M, Baker MC, DeJesus-Hernandez M, Ghidoni R, Benussi L, Finger E, Hsiung GY, Kelley BJ, Murray ME, Rutherford NJ, Brown PE, Ravenscroft T, Mullen B, Ash PE, Bieniek KF, Hatanpaa KJ, Karydas A, Wood EM, Coppola G, Bigio EH, Lippa C, Strong MJ, Beach TG, Knopman DS, Huey ED, Mesulam M, Bird T, White CL, Kertesz A, Geschwind DH, Van Deerlin VM, Petersen RC, Binetti G, Miller BL, Petrucelli L, Wszolek ZK, Boylan KB, Graff-Radford NR, Mackenzie IR, Boeve BF, Dickson DW, Rademakers R. C9ORF72 repeat expansions in cases with previously identified pathogenic mutations.. Neurology, 2013.
• Cross-Disorder Group of the Psychiatric Genomics Consortium, Lee SH, Ripke S, Neale BM, Faraone SV, Purcell SM, Perlis RH, Mowry BJ, Thapar A, Goddard ME, Witte JS, Absher D, Agartz I, Akil H, Amin F, Andreassen OA, Anjorin A, Anney R, Anttila V, Arking DE, Asherson P, Azevedo MH, Backlund L, Badner JA, Bailey AJ, Banaschewski T, Barchas JD, Barnes MR, Barrett TB, Bass N, Battaglia A, Bauer M, Bayés M, Bellivier F, Bergen SE, Berrettini W, Betancur C, Bettecken T, Biederman J, Binder EB, Black DW, Blackwood DH, Bloss CS, Boehnke M, Boomsma DI, Breen G, Breuer R, Bruggeman R, Cormican P, Buccola NG, Buitelaar JK, Bunney WE, Buxbaum JD, Byerley WF, Byrne EM, Caesar S, Cahn W, Cantor RM, Casas M, Chakravarti A, Chambert K, Choudhury K, Cichon S, Cloninger CR, Collier DA, Cook EH, Coon H, Cormand B, Corvin A, Coryell WH, Craig DW, Craig IW, Crosbie J, Cuccaro ML, Curtis D, Czamara D, Datta S, Dawson G, Day R, De Geus EJ, Degenhardt F, Djurovic S, Donohoe GJ, Doyle AE, Duan J, Dudbridge F, Duketis E, Ebstein RP, Edenberg HJ, Elia J, Ennis S, Etain B, Fanous A, Farmer AE, Ferrier IN, Flickinger M, Fombonne E, Foroud T, Frank J, Franke B, Fraser C, Freedman R, Freimer NB, Freitag CM, Friedl M, Frisén L, Gallagher L, Gejman PV, Georgieva L, Gershon ES, Geschwind DH, Giegling I, Gill M, Gordon SD, Gordon-Smith K, Green EK, Greenwood TA, Grice DE, Gross M, Grozeva D, Guan W, Gurling H, De Haan L, Haines JL, Hakonarson H, Hallmayer J, Hamilton SP, Hamshere ML, Hansen TF, Hartmann AM, Hautzinger M, Heath AC, Henders AK, Herms S, Hickie IB, Hipolito M, Hoefels S, Holmans PA, Holsboer F, Hoogendijk WJ, Hottenga JJ, Hultman CM, Hus V, Ingason A, Ising M, Jamain S, Jones EG, Jones I, Jones L, Tzeng JY, Kähler AK, Kahn RS, Kandaswamy R, Keller MC, Kennedy JL, Kenny E, Kent L, Kim Y, Kirov GK, Klauck SM, Klei L, Knowles JA, Kohli MA, Koller DL, Konte B, Korszun A, Krabbendam L, Krasucki R, Kuntsi J, Kwan P, Landén M, Långström N, Lathrop M, Lawrence J, Lawson WB, Leboyer M, Ledbetter DH, Lee PH, Lencz T, Lesch KP, Levinson DF, Lewis CM, Li J, Lichtenstein P, Lieberman JA, Lin DY, Linszen DH, Liu C, Lohoff FW, Loo SK, Lord C, Lowe JK, Lucae S, MacIntyre DJ, Madden PA, Maestrini E, Magnusson PK, Mahon PB, Maier W, Malhotra AK, Mane SM, Martin CL, Martin NG, Mattheisen M, Matthews K, Mattingsdal M, McCarroll SA, McGhee KA, McGough JJ, McGrath PJ, McGuffin P, McInnis MG, McIntosh A, McKinney R, McLean AW, McMahon FJ, McMahon WM, McQuillin A, Medeiros H, Medland SE, Meier S, Melle I, Meng F, Meyer J, Middeldorp CM, Middleton L, Milanova V, Miranda A, Monaco AP, Montgomery GW, Moran JL, Moreno-De-Luca D, Morken G, Morris DW, Morrow EM, Moskvina V, Muglia P, Mühleisen TW, Muir WJ, Müller-Myhsok B, Murtha M, Myers RM, Myin-Germeys I, Neale MC, Nelson SF, Nievergelt CM, Nikolov I, Nimgaonkar V, Nolen WA, Nöthen MM, Nurnberger JI, Nwulia EA, Nyholt DR, O'Dushlaine C, Oades RD, Olincy A, Oliveira G, Olsen L, Ophoff RA, Osby U, Owen MJ, Palotie A, Parr JR, Paterson AD, Pato CN, Pato MT, Penninx BW, Pergadia ML, Pericak-Vance MA, Pickard BS, Pimm J, Piven J, Posthuma D, Potash JB, Poustka F, Propping P, Puri V, Quested DJ, Quinn EM, Ramos-Quiroga JA, Rasmussen HB, Raychaudhuri S, Rehnström K, Reif A, Ribasés M, Rice JP, Rietschel M, Roeder K, Roeyers H, Rossin L, Rothenberger A, Rouleau G, Ruderfer D, Rujescu D, Sanders AR, Sanders SJ, Santangelo SL, Sergeant JA, Schachar R, Schalling M, Schatzberg AF, Scheftner WA, Schellenberg GD, Scherer SW, Schork NJ, Schulze TG, Schumacher J, Schwarz M, Scolnick E, Scott LJ, Shi J, Shilling PD, Shyn SI, Silverman JM, Slager SL, Smalley SL, Smit JH, Smith EN, Sonuga-Barke EJ, St Clair D, State M, Steffens M, Steinhausen HC, Strauss JS, Strohmaier J, Stroup TS, Sutcliffe JS, Szatmari P, Szelinger S, Thirumalai S, Thompson RC, Todorov AA, Tozzi F, Treutlein J, Uhr M, van den Oord EJ, Van Grootheest G, Van Os J, Vicente AM, Vieland VJ, Vincent JB, Visscher PM, Walsh CA, Wassink TH, Watson SJ, Weissman MM, et al. Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs.. Nature genetics, 2013.
• Keller A, Westenberger A, Sobrido MJ, García-Murias M, Domingo A, Sears RL, Lemos RR, Ordoñez-Ugalde A, Nicolas G, da Cunha JE, Rushing EJ, Hugelshofer M, Wurnig MC, Kaech A, Reimann R, Lohmann K, Dobricic V, Carracedo A, Petrovic I, Miyasaki JM, Abakumova I, Mäe MA, Raschperger E, Zatz M, Zschiedrich K, Klepper J, Spiteri E, Prieto JM, Navas I, Preuss M, Dering C, Jankovic M, Paucar M, Svenningsson P, Saliminejad K, Khorshid HR, Novakovic I, Aguzzi A, Boss A, Le Ber I, Defer G, Hannequin D, Kostic VS, Campion D, Geschwind DH, Coppola G, Betsholtz C, Klein C, Oliveira JR. Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice.. Nature genetics, 2013.
• Swarup V, Geschwind DH. Alzheimer's disease: From big data to mechanism.. Nature, 2013.
• Gamsiz ED, Viscidi EW, Frederick AM, Nagpal S, Sanders SJ, Murtha MT, Schmidt M, Simons Simplex Collection Genetics Consortium, Triche EW, Geschwind DH, State MW, Istrail S, Cook EH, Devlin B, Morrow EM. Intellectual disability is associated with increased runs of homozygosity in simplex autism.. American journal of human genetics, 2013.
• Chaste P, Klei L, Sanders SJ, Murtha MT, Hus V, Lowe JK, Willsey AJ, Moreno-De-Luca D, Yu TW, Fombonne E, Geschwind D, Grice DE, Ledbetter DH, Lord C, Mane SM, Lese Martin C, Martin DM, Morrow EM, Walsh CA, Sutcliffe JS, State MW, Devlin B, Cook EH, Kim SJ. Adjusting head circumference for covariates in autism: clinical correlates of a highly heritable continuous trait.. Biological psychiatry, 2013.
• Perry DC, Lehmann M, Yokoyama JS, Karydas A, Lee JJ, Coppola G, Grinberg LT, Geschwind D, Seeley WW, Miller BL, Rosen H, Rabinovici G. Progranulin mutations as risk factors for Alzheimer disease.. JAMA neurology, 2013.
• Miller JA, Woltjer RL, Goodenbour JM, Horvath S, Geschwind DH. Genes and pathways underlying regional and cell type changes in Alzheimer's disease.. Genome medicine, 2013.
• Juknat A, Pietr M, Kozela E, Rimmerman N, Levy R, Gao F, Coppola G, Geschwind D, Vogel Z. Microarray and pathway analysis reveal distinct mechanisms underlying cannabinoid-mediated modulation of LPS-induced activation of BV-2 microglial cells.. PloS one, 2013.
• Belgard TG, Jankovic I, Lowe JK, Geschwind DH. Population structure confounds autism genetic classifier.. Molecular psychiatry, 2013.
• Werling DM, Geschwind DH. Sex differences in autism spectrum disorders.. Current opinion in neurology, 2013.
• Miller ZA, Rankin KP, Graff-Radford NR, Takada LT, Sturm VE, Cleveland CM, Criswell LA, Jaeger PA, Stan T, Heggeli KA, Hsu SC, Karydas A, Khan BK, Grinberg LT, Gorno-Tempini ML, Boxer AL, Rosen HJ, Kramer JH, Coppola G, Geschwind DH, Rademakers R, Seeley WW, Wyss-Coray T, Miller BL. TDP-43 frontotemporal lobar degeneration and autoimmune disease.. Journal of neurology, neurosurgery, and psychiatry, 2013.
• Schwede M, Garbett K, Mirnics K, Geschwind DH, Morrow EM. Genes for endosomal NHE6 and NHE9 are misregulated in autism brains.. Molecular psychiatry, 2013.
• Yamada T, Yang Y, Huang J, Coppola G, Geschwind DH, Bonni A. Sumoylated MEF2A coordinately eliminates orphan presynaptic sites and promotes maturation of presynaptic boutons.. The Journal of neuroscience : the official journal of the Society for Neuroscience, 2013.
• Werling DM, Geschwind DH. Understanding sex bias in autism spectrum disorder.. Proceedings of the National Academy of Sciences of the United States of America, 2013.
• Dougherty JD, Maloney SE, Wozniak DF, Rieger MA, Sonnenblick L, Coppola G, Mahieu NG, Zhang J, Cai J, Patti GJ, Abrahams BS, Geschwind DH, Heintz N. The disruption of Celf6, a gene identified by translational profiling of serotonergic neurons, results in autism-related behaviors.. The Journal of neuroscience : the official journal of the Society for Neuroscience, 2013.
• Fogel BL, Baker C, Curnow A, Perlman SL, Geschwind DH, Coppola G. Mutations in PDYN are not responsible for multiple system atrophy.. Journal of neurology, 2013.
• Stein JL, Parikshak NN, Geschwind DH. Rare inherited variation in autism: beginning to see the forest and a few trees.. Neuron, 2013.
• Hsu SC, Sears RL, Lemos RR, Quintáns B, Huang A, Spiteri E, Nevarez L, Mamah C, Zatz M, Pierce KD, Fullerton JM, Adair JC, Berner JE, Bower M, Brodaty H, Carmona O, Dobricic V, Fogel BL, García-Estevez D, Goldman J, Goudreau JL, Hopfer S, Jankovic M, Jaumà S, Jen JC, Kirdlarp S, Klepper J, Kostic V, Lang AE, Linglart A, Maisenbacher MK, Manyam BV, Mazzoni P, Miedzybrodzka Z, Mitarnun W, Mitchell PB, Mueller J, Novakovic I, Paucar M, Paulson H, Simpson SA, Svenningsson P, Tuite P, Vitek J, Wetchaphanphesat S, Williams C, Yang M, Schofield PR, de Oliveira JR, Sobrido MJ, Geschwind DH, Coppola G. Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification.. Neurogenetics, 2013.
• Lunnon K, Sattlecker M, Furney SJ, Coppola G, Simmons A, Proitsi P, Lupton MK, Lourdusamy A, Johnston C, Soininen H, Kloszewska I, Mecocci P, Tsolaki M, Vellas B, Geschwind D, Lovestone S, Dobson R, Hodges A, dNeuroMed Consortium. A blood gene expression marker of early Alzheimer's disease.. Journal of Alzheimer's disease : JAD, 2013.
• Belgard TG, Geschwind DH. Retooling spare parts: gene duplication and cognition.. Nature neuroscience, 2013.
• Fogel BL, Pribadi M, Pi S, Perlman SL, Geschwind DH, Coppola G. C9ORF72 expansion is not a significant cause of sporadic spinocerebellar ataxia.. Movement disorders : official journal of the Movement Disorder Society, 2012.
• Hamby ME, Coppola G, Ao Y, Geschwind DH, Khakh BS, Sofroniew MV. Inflammatory mediators alter the astrocyte transcriptome and calcium signaling elicited by multiple G-protein-coupled receptors.. The Journal of neuroscience : the official journal of the Society for Neuroscience, 2012.
• Klei L, Sanders SJ, Murtha MT, Hus V, Lowe JK, Willsey AJ, Moreno-De-Luca D, Yu TW, Fombonne E, Geschwind D, Grice DE, Ledbetter DH, Lord C, Mane SM, Martin CL, Martin DM, Morrow EM, Walsh CA, Melhem NM, Chaste P, Sutcliffe JS, State MW, Cook EH, Roeder K, Devlin B. Common genetic variants, acting additively, are a major source of risk for autism.. Molecular autism, 2012.
• Almeida S, Zhang Z, Coppola G, Mao W, Futai K, Karydas A, Geschwind MD, Tartaglia MC, Gao F, Gianni D, Sena-Esteves M, Geschwind DH, Miller BL, Farese RV, Gao FB. Induced pluripotent stem cell models of progranulin-deficient frontotemporal dementia uncover specific reversible neuronal defects.. Cell reports, 2012.
• Moreno-De-Luca D, Sanders SJ, Willsey AJ, Mulle JG, Lowe JK, Geschwind DH, State MW, Martin CL, Ledbetter DH. Using large clinical data sets to infer pathogenicity for rare copy number variants in autism cohorts.. Molecular psychiatry, 2012.
• Hawrylycz MJ, Lein ES, Guillozet-Bongaarts AL, Shen EH, Ng L, Miller JA, van de Lagemaat LN, Smith KA, Ebbert A, Riley ZL, Abajian C, Beckmann CF, Bernard A, Bertagnolli D, Boe AF, Cartagena PM, Chakravarty MM, Chapin M, Chong J, Dalley RA, David Daly B, Dang C, Datta S, Dee N, Dolbeare TA, Faber V, Feng D, Fowler DR, Goldy J, Gregor BW, Haradon Z, Haynor DR, Hohmann JG, Horvath S, Howard RE, Jeromin A, Jochim JM, Kinnunen M, Lau C, Lazarz ET, Lee C, Lemon TA, Li L, Li Y, Morris JA, Overly CC, Parker PD, Parry SE, Reding M, Royall JJ, Schulkin J, Sequeira PA, Slaughterbeck CR, Smith SC, Sodt AJ, Sunkin SM, Swanson BE, Vawter MP, Williams D, Wohnoutka P, Zielke HR, Geschwind DH, Hof PR, Smith SM, Koch C, Grant SGN, Jones AR. An anatomically comprehensive atlas of the adult human brain transcriptome.. Nature, 2012.
• Rudie JD, Hernandez LM, Brown JA, Beck-Pancer D, Colich NL, Gorrindo P, Thompson PM, Geschwind DH, Bookheimer SY, Levitt P, Dapretto M. Autism-associated promoter variant in MET impacts functional and structural brain networks.. Neuron, 2012.
• Zeng J, Konopka G, Hunt BG, Preuss TM, Geschwind D, Yi SV. Divergent whole-genome methylation maps of human and chimpanzee brains reveal epigenetic basis of human regulatory evolution.. American journal of human genetics, 2012.
• Konopka G, Friedrich T, Davis-Turak J, Winden K, Oldham MC, Gao F, Chen L, Wang GZ, Luo R, Preuss TM, Geschwind DH. Human-specific transcriptional networks in the brain.. Neuron, 2012.
• Marques F, Mesquita SD, Sousa JC, Coppola G, Gao F, Geschwind DH, Columba-Cabezas S, Aloisi F, Degn M, Cerqueira JJ, Sousa N, Correia-Neves M, Palha JA. Lipocalin 2 is present in the EAE brain and is modulated by natalizumab.. Frontiers in cellular neuroscience, 2012.
• Sha SJ, Takada LT, Rankin KP, Yokoyama JS, Rutherford NJ, Fong JC, Khan B, Karydas A, Baker MC, DeJesus-Hernandez M, Pribadi M, Coppola G, Geschwind DH, Rademakers R, Lee SE, Seeley W, Miller BL, Boxer AL. Frontotemporal dementia due to C9ORF72 mutations: clinical and imaging features.. Neurology, 2012.
• Russell JF, Steckley JL, Coppola G, Hahn AF, Howard MA, Kornberg Z, Huang A, Mirsattari SM, Merriman B, Klein E, Choi M, Lee HY, Kirk A, Nelson-Williams C, Gibson G, Baraban SC, Lifton RP, Geschwind DH, Fu YH, Ptácek LJ. Familial cortical myoclonus with a mutation in NOL3.. Annals of neurology, 2012.
• Berg JM, Geschwind DH. Autism genetics: searching for specificity and convergence.. Genome biology, 2012.
• Anney R, Klei L, Pinto D, Almeida J, Bacchelli E, Baird G, Bolshakova N, Bölte S, Bolton PF, Bourgeron T, Brennan S, Brian J, Casey J, Conroy J, Correia C, Corsello C, Crawford EL, de Jonge M, Delorme R, Duketis E, Duque F, Estes A, Farrar P, Fernandez BA, Folstein SE, Fombonne E, Gilbert J, Gillberg C, Glessner JT, Green A, Green J, Guter SJ, Heron EA, Holt R, Howe JL, Hughes G, Hus V, Igliozzi R, Jacob S, Kenny GP, Kim C, Kolevzon A, Kustanovich V, Lajonchere CM, Lamb JA, Law-Smith M, Leboyer M, Le Couteur A, Leventhal BL, Liu XQ, Lombard F, Lord C, Lotspeich L, Lund SC, Magalhaes TR, Mantoulan C, McDougle CJ, Melhem NM, Merikangas A, Minshew NJ, Mirza GK, Munson J, Noakes C, Nygren G, Papanikolaou K, Pagnamenta AT, Parrini B, Paton T, Pickles A, Posey DJ, Poustka F, Ragoussis J, Regan R, Roberts W, Roeder K, Roge B, Rutter ML, Schlitt S, Shah N, Sheffield VC, Soorya L, Sousa I, Stoppioni V, Sykes N, Tancredi R, Thompson AP, Thomson S, Tryfon A, Tsiantis J, Van Engeland H, Vincent JB, Volkmar F, Vorstman JA, Wallace S, Wing K, Wittemeyer K, Wood S, Zurawiecki D, Zwaigenbaum L, Bailey AJ, Battaglia A, Cantor RM, Coon H, Cuccaro ML, Dawson G, Ennis S, Freitag CM, Geschwind DH, Haines JL, Klauck SM, McMahon WM, Maestrini E, Miller J, Monaco AP, Nelson SF, Nurnberger JI, Oliveira G, Parr JR, Pericak-Vance MA, Piven J, Schellenberg GD, Scherer SW, Vicente AM, Wassink TH, Wijsman EM, Betancur C, Buxbaum JD, Cook EH, Gallagher L, Gill M, Hallmayer J, Paterson AD, Sutcliffe JS, Szatmari P, Vieland VJ, Hakonarson H, Devlin B. Individual common variants exert weak effects on the risk for autism spectrum disorders.. Human molecular genetics, 2012.
• Perry RB, Doron-Mandel E, Iavnilovitch E, Rishal I, Dagan SY, Tsoory M, Coppola G, McDonald MK, Gomes C, Geschwind DH, Twiss JL, Yaron A, Fainzilber M. Subcellular knockout of importin β1 perturbs axonal retrograde signaling.. Neuron, 2012.
• Braskie MN, Medina LD, Rodriguez-Agudelo Y, Geschwind DH, Macias-Islas MA, Thompson PM, Cummings JL, Bookheimer SY, Ringman JM. Memory performance and fMRI signal in presymptomatic familial Alzheimer's disease.. Human brain mapping, 2012.
• Shirasaki DI, Greiner ER, Al-Ramahi I, Gray M, Boontheung P, Geschwind DH, Botas J, Coppola G, Horvath S, Loo JA, Yang XW. Network organization of the huntingtin proteomic interactome in mammalian brain.. Neuron, 2012.
• Geschwind DH, Konopka G. Neuroscience: Genes and human brain evolution.. Nature, 2012.
• Fogel BL, Wexler E, Wahnich A, Friedrich T, Vijayendran C, Gao F, Parikshak N, Konopka G, Geschwind DH. RBFOX1 regulates both splicing and transcriptional networks in human neuronal development.. Human molecular genetics, 2012.
• Luo R, Sanders SJ, Tian Y, Voineagu I, Huang N, Chu SH, Klei L, Cai C, Ou J, Lowe JK, Hurles ME, Devlin B, State MW, Geschwind DH. Genome-wide transcriptome profiling reveals the functional impact of rare de novo and recurrent CNVs in autism spectrum disorders.. American journal of human genetics, 2012.
• Allen M, Zou F, Chai HS, Younkin CS, Crook J, Pankratz VS, Carrasquillo MM, Rowley CN, Nair AA, Middha S, Maharjan S, Nguyen T, Ma L, Malphrus KG, Palusak R, Lincoln S, Bisceglio G, Georgescu C, Schultz D, Rakhshan F, Kolbert CP, Jen J, Haines JL, Mayeux R, Pericak-Vance MA, Farrer LA, Schellenberg GD, Petersen RC, Graff-Radford NR, Dickson DW, Younkin SG, Ertekin-Taner N, Alzheimer's Disease Genetics Consortium (ADGC), Apostolova LG, Arnold SE, Baldwin CT, Barber R, Barmada MM, Beach T, Beecham GW, Beekly D, Bennett DA, Bigio EH, Bird TD, Blacker D, Boeve BF, Bowen JD, Boxer A, Burke JR, Buros J, Buxbaum JD, Cairns NJ, Cantwell LB, Cao C, Carlson CS, Carney RM, Carroll SL, Chui HC, Clark DG, Corneveaux J, Cotman CW, Crane PK, Cruchaga C, Cummings JL, De Jager PL, DeCarli C, DeKosky ST, Demirci FY, Diaz-Arrastia R, Dick M, Dombroski BA, Duara R, Ellis WD, Evans D, Faber KM, Fallon KB, Farlow MR, Ferris S, Foroud TM, Frosch M, Galasko DR, Gallins PJ, Ganguli M, Gearing M, Geschwind DH, Ghetti B, Gilbert JR, Gilman S, Giordani B, Glass JD, Goate AM, Green RC, Growdon JH, Hakonarson H, Hamilton RL, Hardy J, Harrell LE, Head E, Honig LS, Huentelman MJ, Hulette CM, Hyman BT, Jarvik GP, Jicha GA, Jin LW, Jun G, Kamboh MI, Karlawish J, Karydas A, Kauwe JS, Kaye JA, Kennedy N, Kim R, Koo EH, Kowall NW, Kramer P, Kukull WA, Lah JJ, Larson EB, Levey AI, Lieberman AP, Lopez OL, Lunetta KL, Mack WJ, Marson DC, Martin ER, Martiniuk F, Mash DC, Masliah E, McCormick WC, McCurry SM, McDavid AN, McKee AC, Mesulam M, Miller BL, Miller CA, Miller JW, Montine TJ, Morris JC, Myers AJ, Naj AC, Nowotny P, Parisi JE, Perl DP, Peskind E, Poon WW, Potter H, Quinn JF, Raj A, Rajbhandary RA, Raskind M, Reiman EM, Reisberg B, Reitz C, Ringman JM, Roberson ED, Rogaeva E, Rosenberg RN, Sano M, Saykin AJ, Schneider JA, Schneider LS, Seeley W, Shelanski ML, Slifer MA, Smith CD, Sonnen JA, Spina S, St George-Hyslop P, Stern RA, Tanzi RE, Trojanowski JQ, Troncoso JC, Tsuang DW, Van Deerlin VM, Vardarajan BN, Vinters HV, Vonsattel JP, Wang LS, Weintraub S, Welsh-Bohmer KA, Williamson J, Woltjer RL. Novel late-onset Alzheimer disease loci variants associate with brain gene expression.. Neurology, 2012.
• Coppola G, Geschwind DH. Genomic medicine enters the neurology clinic.. Neurology, 2012.
• Ringman JM, Elashoff D, Geschwind DH, Welsh BT, Gylys KH, Lee C, Cummings JL, Cole GM. Plasma signaling proteins in persons at genetic risk for Alzheimer disease: influence of APOE genotype.. Archives of neurology, 2012.
• Celestino-Soper PB, Violante S, Crawford EL, Luo R, Lionel AC, Delaby E, Cai G, Sadikovic B, Lee K, Lo C, Gao K, Person RE, Moss TJ, German JR, Huang N, Shinawi M, Treadwell-Deering D, Szatmari P, Roberts W, Fernandez B, Schroer RJ, Stevenson RE, Buxbaum JD, Betancur C, Scherer SW, Sanders SJ, Geschwind DH, Sutcliffe JS, Hurles ME, Wanders RJ, Shaw CA, Leal SM, Cook EH, Goin-Kochel RP, Vaz FM, Beaudet AL. A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism.. Proceedings of the National Academy of Sciences of the United States of America, 2012.
• Coppola G, Chinnathambi S, Lee JJ, Dombroski BA, Baker MC, Soto-Ortolaza AI, Lee SE, Klein E, Huang AY, Sears R, Lane JR, Karydas AM, Kenet RO, Biernat J, Wang LS, Cotman CW, Decarli CS, Levey AI, Ringman JM, Mendez MF, Chui HC, Le Ber I, Brice A, Lupton MK, Preza E, Lovestone S, Powell J, Graff-Radford N, Petersen RC, Boeve BF, Lippa CF, Bigio EH, Mackenzie I, Finger E, Kertesz A, Caselli RJ, Gearing M, Juncos JL, Ghetti B, Spina S, Bordelon YM, Tourtellotte WW, Frosch MP, Vonsattel JP, Zarow C, Beach TG, Albin RL, Lieberman AP, Lee VM, Trojanowski JQ, Van Deerlin VM, Bird TD, Galasko DR, Masliah E, White CL, Troncoso JC, Hannequin D, Boxer AL, Geschwind MD, Kumar S, Mandelkow EM, Wszolek ZK, Uitti RJ, Dickson DW, Haines JL, Mayeux R, Pericak-Vance MA, Farrer LA, Alzheimer's Disease Genetics Consortium, Ross OA, Rademakers R, Schellenberg GD, Miller BL, Mandelkow E, Geschwind DH. Evidence for a role of the rare p.A152T variant in MAPT in increasing the risk for FTD-spectrum and Alzheimer's diseases.. Human molecular genetics, 2012.
• Sanders SJ, Murtha MT, Gupta AR, Murdoch JD, Raubeson MJ, Willsey AJ, Ercan-Sencicek AG, DiLullo NM, Parikshak NN, Stein JL, Walker MF, Ober GT, Teran NA, Song Y, El-Fishawy P, Murtha RC, Choi M, Overton JD, Bjornson RD, Carriero NJ, Meyer KA, Bilguvar K, Mane SM, Sestan N, Lifton RP, Günel M, Roeder K, Geschwind DH, Devlin B, State MW. De novo mutations revealed by whole-exome sequencing are strongly associated with autism.. Nature, 2012.
• Khan BK, Yokoyama JS, Takada LT, Sha SJ, Rutherford NJ, Fong JC, Karydas AM, Wu T, Ketelle RS, Baker MC, Hernandez MD, Coppola G, Geschwind DH, Rademakers R, Lee SE, Rosen HJ, Rabinovici GD, Seeley WW, Rankin KP, Boxer AL, Miller BL. Atypical, slowly progressive behavioural variant frontotemporal dementia associated with C9ORF72 hexanucleotide expansion.. Journal of neurology, neurosurgery, and psychiatry, 2012.
• Juknat A, Pietr M, Kozela E, Rimmerman N, Levy R, Coppola G, Geschwind D, Vogel Z. Differential transcriptional profiles mediated by exposure to the cannabinoids cannabidiol and Δ9-tetrahydrocannabinol in BV-2 microglial cells.. British journal of pharmacology, 2012.
• Bernard A, Lubbers LS, Tanis KQ, Luo R, Podtelezhnikov AA, Finney EM, McWhorter MM, Serikawa K, Lemon T, Morgan R, Copeland C, Smith K, Cullen V, Davis-Turak J, Lee CK, Sunkin SM, Loboda AP, Levine DM, Stone DJ, Hawrylycz MJ, Roberts CJ, Jones AR, Geschwind DH, Lein ES. Transcriptional architecture of the primate neocortex.. Neuron, 2012.
• Constantino JN, Todorov A, Hilton C, Law P, Zhang Y, Molloy E, Fitzgerald R, Geschwind D. Autism recurrence in half siblings: strong support for genetic mechanisms of transmission in ASD.. Molecular psychiatry, 2012.
• Peñagarikano O, Geschwind DH. What does CNTNAP2 reveal about autism spectrum disorder?. Trends in molecular medicine, 2012.
• Fogel BL, Lee JY, Lane J, Wahnich A, Chan S, Huang A, Osborn GE, Klein E, Mamah C, Perlman S, Geschwind DH, Coppola G. Mutations in rare ataxia genes are uncommon causes of sporadic cerebellar ataxia.. Movement disorders : official journal of the Movement Disorder Society, 2012.
• Lunnon K, Ibrahim Z, Proitsi P, Lourdusamy A, Newhouse S, Sattlecker M, Furney S, Saleem M, Soininen H, Kloszewska I, Mecocci P, Tsolaki M, Vellas B, Coppola G, Geschwind D, Simmons A, Lovestone S, Dobson R, Hodges A, AddNeuroMed Consortium. Mitochondrial dysfunction and immune activation are detectable in early Alzheimer's disease blood.. Journal of Alzheimer's disease : JAD, 2012.
• Ringman JM, Schulman H, Becker C, Jones T, Bai Y, Immermann F, Cole G, Sokolow S, Gylys K, Geschwind DH, Cummings JL, Wan HI. Proteomic changes in cerebrospinal fluid of presymptomatic and affected persons carrying familial Alzheimer disease mutations.. Archives of neurology, 2012.
• Blesch A, Lu P, Tsukada S, Alto LT, Roet K, Coppola G, Geschwind D, Tuszynski MH. Conditioning lesions before or after spinal cord injury recruit broad genetic mechanisms that sustain axonal regeneration: superiority to camp-mediated effects.. Experimental neurology, 2011.
• Pasca SP, Portmann T, Voineagu I, Yazawa M, Shcheglovitov A, Pasca AM, Cord B, Palmer TD, Chikahisa S, Nishino S, Bernstein JA, Hallmayer J, Geschwind DH, Dolmetsch RE. Using iPSC-derived neurons to uncover cellular phenotypes associated with Timothy syndrome.. Nature medicine, 2011.
• Lu AT, Yoon J, Geschwind DH, Cantor RM. QTL replication and targeted association highlight the nerve growth factor gene for nonverbal communication deficits in autism spectrum disorders.. Molecular psychiatry, 2011.
• Wexler EM, Geschwind DH. DISC1: a schizophrenia gene with multiple personalities.. Neuron, 2011.
• Coppola G, Burnett R, Perlman S, Versano R, Gao F, Plasterer H, Rai M, Saccá F, Filla A, Lynch DR, Rusche JR, Gottesfeld JM, Pandolfo M, Geschwind DH. A gene expression phenotype in lymphocytes from Friedreich ataxia patients.. Annals of neurology, 2011.
• Casey JP, Magalhaes T, Conroy JM, Regan R, Shah N, Anney R, Shields DC, Abrahams BS, Almeida J, Bacchelli E, Bailey AJ, Baird G, Battaglia A, Berney T, Bolshakova N, Bolton PF, Bourgeron T, Brennan S, Cali P, Correia C, Corsello C, Coutanche M, Dawson G, de Jonge M, Delorme R, Duketis E, Duque F, Estes A, Farrar P, Fernandez BA, Folstein SE, Foley S, Fombonne E, Freitag CM, Gilbert J, Gillberg C, Glessner JT, Green J, Guter SJ, Hakonarson H, Holt R, Hughes G, Hus V, Igliozzi R, Kim C, Klauck SM, Kolevzon A, Lamb JA, Leboyer M, Le Couteur A, Leventhal BL, Lord C, Lund SC, Maestrini E, Mantoulan C, Marshall CR, McConachie H, McDougle CJ, McGrath J, McMahon WM, Merikangas A, Miller J, Minopoli F, Mirza GK, Munson J, Nelson SF, Nygren G, Oliveira G, Pagnamenta AT, Papanikolaou K, Parr JR, Parrini B, Pickles A, Pinto D, Piven J, Posey DJ, Poustka A, Poustka F, Ragoussis J, Roge B, Rutter ML, Sequeira AF, Soorya L, Sousa I, Sykes N, Stoppioni V, Tancredi R, Tauber M, Thompson AP, Thomson S, Tsiantis J, Van Engeland H, Vincent JB, Volkmar F, Vorstman JA, Wallace S, Wang K, Wassink TH, White K, Wing K, Wittemeyer K, Yaspan BL, Zwaigenbaum L, Betancur C, Buxbaum JD, Cantor RM, Cook EH, Coon H, Cuccaro ML, Geschwind DH, Haines JL, Hallmayer J, Monaco AP, Nurnberger JI, Pericak-Vance MA, Schellenberg GD, Scherer SW, Sutcliffe JS, Szatmari P, Vieland VJ, Wijsman EM, Green A, Gill M, Gallagher L, Vicente A, Ennis S. A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder.. Human genetics, 2011.
• Wexler EM, Rosen E, Lu D, Osborn GE, Martin E, Raybould H, Geschwind DH. Genome-wide analysis of a Wnt1-regulated transcriptional network implicates neurodegenerative pathways.. Science signaling, 2011.
• Ma CH, Omura T, Cobos EJ, Latrémolière A, Ghasemlou N, Brenner GJ, van Veen E, Barrett L, Sawada T, Gao F, Coppola G, Gertler F, Costigan M, Geschwind D, Woolf CJ. Accelerating axonal growth promotes motor recovery after peripheral nerve injury in mice.. The Journal of clinical investigation, 2011.
• Peñagarikano O, Abrahams BS, Herman EI, Winden KD, Gdalyahu A, Dong H, Sonnenblick LI, Gruver R, Almajano J, Bragin A, Golshani P, Trachtenberg JT, Peles E, Geschwind DH. Absence of CNTNAP2 leads to epilepsy, neuronal migration abnormalities, and core autism-related deficits.. Cell, 2011.
• Apostolova LG, Hwang KS, Medina LD, Green AE, Braskie MN, Dutton RA, Lai J, Geschwind DH, Cummings JL, Thompson PM, Ringman JM. Cortical and hippocampal atrophy in patients with autosomal dominant familial Alzheimer's disease.. Dementia and geriatric cognitive disorders, 2011.
• DeJesus-Hernandez M, Mackenzie IR, Boeve BF, Boxer AL, Baker M, Rutherford NJ, Nicholson AM, Finch NA, Flynn H, Adamson J, Kouri N, Wojtas A, Sengdy P, Hsiung GY, Karydas A, Seeley WW, Josephs KA, Coppola G, Geschwind DH, Wszolek ZK, Feldman H, Knopman DS, Petersen RC, Miller BL, Dickson DW, Boylan KB, Graff-Radford NR, Rademakers R. Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS.. Neuron, 2011.
• Rosen EY, Wexler EM, Versano R, Coppola G, Gao F, Winden KD, Oldham MC, Martens LH, Zhou P, Farese RV, Geschwind DH. Functional genomic analyses identify pathways dysregulated by progranulin deficiency, implicating Wnt signaling.. Neuron, 2011.
• Medina LD, Rodriguez-Agudelo Y, Geschwind DH, Gilbert PE, Liang LJ, Cummings JL, Ringman JM. Propositional density and apolipoprotein E genotype among persons at risk for familial Alzheimer's disease.. Dementia and geriatric cognitive disorders, 2011.
• Geschwind DH. Genetics of autism spectrum disorders.. Trends in cognitive sciences, 2011.
• Mukamel Z, Konopka G, Wexler E, Osborn GE, Dong H, Bergman MY, Levitt P, Geschwind DH. Regulation of MET by FOXP2, genes implicated in higher cognitive dysfunction and autism risk.. The Journal of neuroscience : the official journal of the Society for Neuroscience, 2011.
• Voineagu I, Huang L, Winden K, Lazaro M, Haan E, Nelson J, McGaughran J, Nguyen LS, Friend K, Hackett A, Field M, Gecz J, Geschwind D. CCDC22: a novel candidate gene for syndromic X-linked intellectual disability.. Molecular psychiatry, 2011.
• Miller JA, Cai C, Langfelder P, Geschwind DH, Kurian SM, Salomon DR, Horvath S. Strategies for aggregating gene expression data: the collapseRows R function.. BMC bioinformatics, 2011.
• Vernes SC, Oliver PL, Spiteri E, Lockstone HE, Puliyadi R, Taylor JM, Ho J, Mombereau C, Brewer A, Lowy E, Nicod J, Groszer M, Baban D, Sahgal N, Cazier JB, Ragoussis J, Davies KE, Geschwind DH, Fisher SE. Foxp2 regulates gene networks implicated in neurite outgrowth in the developing brain.. PLoS genetics, 2011.
• Winden KD, Karsten SL, Bragin A, Kudo LC, Gehman L, Ruidera J, Geschwind DH, Engel J. A systems level, functional genomics analysis of chronic epilepsy.. PloS one, 2011.
• Dolmetsch R, Geschwind DH. The human brain in a dish: the promise of iPSC-derived neurons.. Cell, 2011.
• Sanders SJ, Ercan-Sencicek AG, Hus V, Luo R, Murtha MT, Moreno-De-Luca D, Chu SH, Moreau MP, Gupta AR, Thomson SA, Mason CE, Bilguvar K, Celestino-Soper PB, Choi M, Crawford EL, Davis L, Wright NR, Dhodapkar RM, DiCola M, DiLullo NM, Fernandez TV, Fielding-Singh V, Fishman DO, Frahm S, Garagaloyan R, Goh GS, Kammela S, Klei L, Lowe JK, Lund SC, McGrew AD, Meyer KA, Moffat WJ, Murdoch JD, O'Roak BJ, Ober GT, Pottenger RS, Raubeson MJ, Song Y, Wang Q, Yaspan BL, Yu TW, Yurkiewicz IR, Beaudet AL, Cantor RM, Curland M, Grice DE, Günel M, Lifton RP, Mane SM, Martin DM, Shaw CA, Sheldon M, Tischfield JA, Walsh CA, Morrow EM, Ledbetter DH, Fombonne E, Lord C, Martin CL, Brooks AI, Sutcliffe JS, Cook EH, Geschwind D, Roeder K, Devlin B, State MW. Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.. Neuron, 2011.
• Konopka G, Wexler E, Rosen E, Mukamel Z, Osborn GE, Chen L, Lu D, Gao F, Gao K, Lowe JK, Geschwind DH. Modeling the functional genomics of autism using human neurons.. Molecular psychiatry, 2011.
• Becker EB, Fogel BL, Rajakulendran S, Dulneva A, Hanna MG, Perlman SL, Geschwind DH, Davies KE. Candidate screening of the TRPC3 gene in cerebellar ataxia.. Cerebellum (London, England), 2011.
• Voineagu I, Wang X, Johnston P, Lowe JK, Tian Y, Horvath S, Mill J, Cantor RM, Blencowe BJ, Geschwind DH. Transcriptomic analysis of autistic brain reveals convergent molecular pathology.. Nature, 2011.
• Sleiman SF, Langley BC, Basso M, Berlin J, Xia L, Payappilly JB, Kharel MK, Guo H, Marsh JL, Thompson LM, Mahishi L, Ahuja P, MacLellan WR, Geschwind DH, Coppola G, Rohr J, Ratan RR. Mithramycin is a gene-selective Sp1 inhibitor that identifies a biological intersection between cancer and neurodegeneration.. The Journal of neuroscience : the official journal of the Society for Neuroscience, 2011.
• Zai L, Ferrari C, Dice C, Subbaiah S, Havton LA, Coppola G, Geschwind D, Irwin N, Huebner E, Strittmatter SM, Benowitz LI. Inosine augments the effects of a Nogo receptor blocker and of environmental enrichment to restore skilled forelimb use after stroke.. The Journal of neuroscience : the official journal of the Society for Neuroscience, 2011.
• Iwamoto K, Bundo M, Ueda J, Oldham MC, Ukai W, Hashimoto E, Saito T, Geschwind DH, Kato T. Neurons show distinctive DNA methylation profile and higher interindividual variations compared with non-neurons.. Genome research, 2011.
• Naj AC, Jun G, Beecham GW, Wang LS, Vardarajan BN, Buros J, Gallins PJ, Buxbaum JD, Jarvik GP, Crane PK, Larson EB, Bird TD, Boeve BF, Graff-Radford NR, De Jager PL, Evans D, Schneider JA, Carrasquillo MM, Ertekin-Taner N, Younkin SG, Cruchaga C, Kauwe JS, Nowotny P, Kramer P, Hardy J, Huentelman MJ, Myers AJ, Barmada MM, Demirci FY, Baldwin CT, Green RC, Rogaeva E, St George-Hyslop P, Arnold SE, Barber R, Beach T, Bigio EH, Bowen JD, Boxer A, Burke JR, Cairns NJ, Carlson CS, Carney RM, Carroll SL, Chui HC, Clark DG, Corneveaux J, Cotman CW, Cummings JL, DeCarli C, DeKosky ST, Diaz-Arrastia R, Dick M, Dickson DW, Ellis WG, Faber KM, Fallon KB, Farlow MR, Ferris S, Frosch MP, Galasko DR, Ganguli M, Gearing M, Geschwind DH, Ghetti B, Gilbert JR, Gilman S, Giordani B, Glass JD, Growdon JH, Hamilton RL, Harrell LE, Head E, Honig LS, Hulette CM, Hyman BT, Jicha GA, Jin LW, Johnson N, Karlawish J, Karydas A, Kaye JA, Kim R, Koo EH, Kowall NW, Lah JJ, Levey AI, Lieberman AP, Lopez OL, Mack WJ, Marson DC, Martiniuk F, Mash DC, Masliah E, McCormick WC, McCurry SM, McDavid AN, McKee AC, Mesulam M, Miller BL, Miller CA, Miller JW, Parisi JE, Perl DP, Peskind E, Petersen RC, Poon WW, Quinn JF, Rajbhandary RA, Raskind M, Reisberg B, Ringman JM, Roberson ED, Rosenberg RN, Sano M, Schneider LS, Seeley W, Shelanski ML, Slifer MA, Smith CD, Sonnen JA, Spina S, Stern RA, Tanzi RE, Trojanowski JQ, Troncoso JC, Van Deerlin VM, Vinters HV, Vonsattel JP, Weintraub S, Welsh-Bohmer KA, Williamson J, Woltjer RL, Cantwell LB, Dombroski BA, Beekly D, Lunetta KL, Martin ER, Kamboh MI, Saykin AJ, Reiman EM, Bennett DA, Morris JC, Montine TJ, Goate AM, Blacker D, Tsuang DW, Hakonarson H, Kukull WA, Foroud TM, Haines JL, Mayeux R, Pericak-Vance MA, Farrer LA, Schellenberg GD. Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease.. Nature genetics, 2011.
• Geschwind DH. Neurodevelopmental disorders: hope for a new beginning.. Current opinion in neurology, 2011.
• Cenik B, Sephton CF, Dewey CM, Xian X, Wei S, Yu K, Niu W, Coppola G, Coughlin SE, Lee SE, Dries DR, Almeida S, Geschwind DH, Gao FB, Miller BL, Farese RV, Posner BA, Yu G, Herz J. Suberoylanilide hydroxamic acid (vorinostat) up-regulates progranulin transcription: rational therapeutic approach to frontotemporal dementia.. The Journal of biological chemistry, 2011.
• Tang B, Seredenina T, Coppola G, Kuhn A, Geschwind DH, Luthi-Carter R, Thomas EA. Gene expression profiling of R6/2 transgenic mice with different CAG repeat lengths reveals genes associated with disease onset and progression in Huntington's disease.. Neurobiology of disease, 2011.
• Marques F, Sousa JC, Coppola G, Gao F, Puga R, Brentani H, Geschwind DH, Sousa N, Correia-Neves M, Palha JA. Transcriptome signature of the adult mouse choroid plexus.. Fluids and barriers of the CNS, 2011.
• Newbern JM, Li X, Shoemaker SE, Zhou J, Zhong J, Wu Y, Bonder D, Hollenback S, Coppola G, Geschwind DH, Landreth GE, Snider WD. Specific functions for ERK/MAPK signaling during PNS development.. Neuron, 2011.
• Lu PH, Thompson PM, Leow A, Lee GJ, Lee A, Yanovsky I, Parikshak N, Khoo T, Wu S, Geschwind D, Bartzokis G. Apolipoprotein E genotype is associated with temporal and hippocampal atrophy rates in healthy elderly adults: a tensor-based morphometry study.. Journal of Alzheimer's disease : JAD, 2011.
• Finch N, Carrasquillo MM, Baker M, Rutherford NJ, Coppola G, Dejesus-Hernandez M, Crook R, Hunter T, Ghidoni R, Benussi L, Crook J, Finger E, Hantanpaa KJ, Karydas AM, Sengdy P, Gonzalez J, Seeley WW, Johnson N, Beach TG, Mesulam M, Forloni G, Kertesz A, Knopman DS, Uitti R, White CL, Caselli R, Lippa C, Bigio EH, Wszolek ZK, Binetti G, Mackenzie IR, Miller BL, Boeve BF, Younkin SG, Dickson DW, Petersen RC, Graff-Radford NR, Geschwind DH, Rademakers R. TMEM106B regulates progranulin levels and the penetrance of FTLD in GRN mutation carriers.. Neurology, 2010.
• Thomas EA, Coppola G, Tang B, Kuhn A, Kim S, Geschwind DH, Brown TB, Luthi-Carter R, Ehrlich ME. In vivo cell-autonomous transcriptional abnormalities revealed in mice expressing mutant huntingtin in striatal but not cortical neurons.. Human molecular genetics, 2010.
• Braskie MN, Medina LD, Rodriguez-Agudelo Y, Geschwind DH, Macias-Islas MA, Cummings JL, Bookheimer SY, Ringman JM. Increased fMRI signal with age in familial Alzheimer's disease mutation carriers.. Neurobiology of aging, 2010.
• Ehninger D, Sano Y, de Vries PJ, Dies K, Franz D, Geschwind DH, Kaur M, Lee YS, Li W, Lowe JK, Nakagawa JA, Sahin M, Smith K, Whittemore V, Silva AJ. Gestational immune activation and Tsc2 haploinsufficiency cooperate to disrupt fetal survival and may perturb social behavior in adult mice.. Molecular psychiatry, 2010.
• Li S, Overman JJ, Katsman D, Kozlov SV, Donnelly CJ, Twiss JL, Giger RJ, Coppola G, Geschwind DH, Carmichael ST. An age-related sprouting transcriptome provides molecular control of axonal sprouting after stroke.. Nature neuroscience, 2010.
• Scott-Van Zeeland AA, Abrahams BS, Alvarez-Retuerto AI, Sonnenblick LI, Rudie JD, Ghahremani D, Mumford JA, Poldrack RA, Dapretto M, Geschwind DH, Bookheimer SY. Altered functional connectivity in frontal lobe circuits is associated with variation in the autism risk gene CNTNAP2.. Science translational medicine, 2010.
• Wang S, Chandler-Militello D, Lu G, Roy NS, Zielke A, Auvergne R, Stanwood N, Geschwind D, Coppola G, Nicolis SK, Sim FJ, Goldman SA. Prospective identification, isolation, and profiling of a telomerase-expressing subpopulation of human neural stem cells, using sox2 enhancer-directed fluorescence-activated cell sorting.. The Journal of neuroscience : the official journal of the Society for Neuroscience, 2010.
• Konopka G, Geschwind DH. Human brain evolution: harnessing the genomics (r)evolution to link genes, cognition, and behavior.. Neuron, 2010.
• McConoughey SJ, Basso M, Niatsetskaya ZV, Sleiman SF, Smirnova NA, Langley BC, Mahishi L, Cooper AJ, Antonyak MA, Cerione RA, Li B, Starkov A, Chaturvedi RK, Beal MF, Coppola G, Geschwind DH, Ryu H, Xia L, Iismaa SE, Pallos J, Pasternack R, Hils M, Fan J, Raymond LA, Marsh JL, Thompson LM, Ratan RR. Inhibition of transglutaminase 2 mitigates transcriptional dysregulation in models of Huntington disease.. EMBO molecular medicine, 2010.
• Ringman JM, Medina LD, Braskie M, Rodriguez-Agudelo Y, Geschwind DH, Macias-Islas MA, Cummings JL, Bookheimer S. Effects of risk genes on BOLD activation in presymptomatic carriers of familial Alzheimer's disease mutations during a novelty encoding task.. Cerebral cortex (New York, N.Y. : 1991), 2010.
• Costigan M, Belfer I, Griffin RS, Dai F, Barrett LB, Coppola G, Wu T, Kiselycznyk C, Poddar M, Lu Y, Diatchenko L, Smith S, Cobos EJ, Zaykin D, Allchorne A, Gershon E, Livneh J, Shen PH, Nikolajsen L, Karppinen J, Männikkö M, Kelempisioti A, Goldman D, Maixner W, Geschwind DH, Max MB, Seltzer Z, Woolf CJ. Multiple chronic pain states are associated with a common amino acid-changing allele in KCNS1.. Brain : a journal of neurology, 2010.
• Anney R, Klei L, Pinto D, Regan R, Conroy J, Magalhaes TR, Correia C, Abrahams BS, Sykes N, Pagnamenta AT, Almeida J, Bacchelli E, Bailey AJ, Baird G, Battaglia A, Berney T, Bolshakova N, Bölte S, Bolton PF, Bourgeron T, Brennan S, Brian J, Carson AR, Casallo G, Casey J, Chu SH, Cochrane L, Corsello C, Crawford EL, Crossett A, Dawson G, de Jonge M, Delorme R, Drmic I, Duketis E, Duque F, Estes A, Farrar P, Fernandez BA, Folstein SE, Fombonne E, Freitag CM, Gilbert J, Gillberg C, Glessner JT, Goldberg J, Green J, Guter SJ, Hakonarson H, Heron EA, Hill M, Holt R, Howe JL, Hughes G, Hus V, Igliozzi R, Kim C, Klauck SM, Kolevzon A, Korvatska O, Kustanovich V, Lajonchere CM, Lamb JA, Laskawiec M, Leboyer M, Le Couteur A, Leventhal BL, Lionel AC, Liu XQ, Lord C, Lotspeich L, Lund SC, Maestrini E, Mahoney W, Mantoulan C, Marshall CR, McConachie H, McDougle CJ, McGrath J, McMahon WM, Melhem NM, Merikangas A, Migita O, Minshew NJ, Mirza GK, Munson J, Nelson SF, Noakes C, Noor A, Nygren G, Oliveira G, Papanikolaou K, Parr JR, Parrini B, Paton T, Pickles A, Piven J, Posey DJ, Poustka A, Poustka F, Prasad A, Ragoussis J, Renshaw K, Rickaby J, Roberts W, Roeder K, Roge B, Rutter ML, Bierut LJ, Rice JP, Salt J, Sansom K, Sato D, Segurado R, Senman L, Shah N, Sheffield VC, Soorya L, Sousa I, Stoppioni V, Strawbridge C, Tancredi R, Tansey K, Thiruvahindrapduram B, Thompson AP, Thomson S, Tryfon A, Tsiantis J, Van Engeland H, Vincent JB, Volkmar F, Wallace S, Wang K, Wang Z, Wassink TH, Wing K, Wittemeyer K, Wood S, Yaspan BL, Zurawiecki D, Zwaigenbaum L, Betancur C, Buxbaum JD, Cantor RM, Cook EH, Coon H, Cuccaro ML, Gallagher L, Geschwind DH, Gill M, Haines JL, Miller J, Monaco AP, Nurnberger JI, Paterson AD, Pericak-Vance MA, Schellenberg GD, Scherer SW, Sutcliffe JS, Szatmari P, Vicente AM, Vieland VJ, Wijsman EM, Devlin B, Ennis S, Hallmayer J. A genome-wide scan for common alleles affecting risk for autism.. Human molecular genetics, 2010.
• Michaelevski I, Segal-Ruder Y, Rozenbaum M, Medzihradszky KF, Shalem O, Coppola G, Horn-Saban S, Ben-Yaakov K, Dagan SY, Rishal I, Geschwind DH, Pilpel Y, Burlingame AL, Fainzilber M. Signaling to transcription networks in the neuronal retrograde injury response.. Science signaling, 2010.
• Miller JA, Horvath S, Geschwind DH. Divergence of human and mouse brain transcriptome highlights Alzheimer disease pathways.. Proceedings of the National Academy of Sciences of the United States of America, 2010.
• Pinto D, Pagnamenta AT, Klei L, Anney R, Merico D, Regan R, Conroy J, Magalhaes TR, Correia C, Abrahams BS, Almeida J, Bacchelli E, Bader GD, Bailey AJ, Baird G, Battaglia A, Berney T, Bolshakova N, Bölte S, Bolton PF, Bourgeron T, Brennan S, Brian J, Bryson SE, Carson AR, Casallo G, Casey J, Chung BH, Cochrane L, Corsello C, Crawford EL, Crossett A, Cytrynbaum C, Dawson G, de Jonge M, Delorme R, Drmic I, Duketis E, Duque F, Estes A, Farrar P, Fernandez BA, Folstein SE, Fombonne E, Freitag CM, Gilbert J, Gillberg C, Glessner JT, Goldberg J, Green A, Green J, Guter SJ, Hakonarson H, Heron EA, Hill M, Holt R, Howe JL, Hughes G, Hus V, Igliozzi R, Kim C, Klauck SM, Kolevzon A, Korvatska O, Kustanovich V, Lajonchere CM, Lamb JA, Laskawiec M, Leboyer M, Le Couteur A, Leventhal BL, Lionel AC, Liu XQ, Lord C, Lotspeich L, Lund SC, Maestrini E, Mahoney W, Mantoulan C, Marshall CR, McConachie H, McDougle CJ, McGrath J, McMahon WM, Merikangas A, Migita O, Minshew NJ, Mirza GK, Munson J, Nelson SF, Noakes C, Noor A, Nygren G, Oliveira G, Papanikolaou K, Parr JR, Parrini B, Paton T, Pickles A, Pilorge M, Piven J, Ponting CP, Posey DJ, Poustka A, Poustka F, Prasad A, Ragoussis J, Renshaw K, Rickaby J, Roberts W, Roeder K, Roge B, Rutter ML, Bierut LJ, Rice JP, Salt J, Sansom K, Sato D, Segurado R, Sequeira AF, Senman L, Shah N, Sheffield VC, Soorya L, Sousa I, Stein O, Sykes N, Stoppioni V, Strawbridge C, Tancredi R, Tansey K, Thiruvahindrapduram B, Thompson AP, Thomson S, Tryfon A, Tsiantis J, Van Engeland H, Vincent JB, Volkmar F, Wallace S, Wang K, Wang Z, Wassink TH, Webber C, Weksberg R, Wing K, Wittemeyer K, Wood S, Wu J, Yaspan BL, Zurawiecki D, Zwaigenbaum L, Buxbaum JD, Cantor RM, Cook EH, Coon H, Cuccaro ML, Devlin B, Ennis S, Gallagher L, Geschwind DH, Gill M, Haines JL, Hallmayer J, Miller J, Monaco AP, Nurnberger JI, Paterson AD, Pericak-Vance MA, Schellenberg GD, Szatmari P, Vicente AM, Vieland VJ, Wijsman EM, Scherer SW, Sutcliffe JS, Betancur C. Functional impact of global rare copy number variation in autism spectrum disorders.. Nature, 2010.
• Panaitof SC, Abrahams BS, Dong H, Geschwind DH, White SA. Language-related Cntnap2 gene is differentially expressed in sexually dimorphic song nuclei essential for vocal learning in songbirds.. The Journal of comparative neurology, 2010.
• Mumford JA, Horvath S, Oldham MC, Langfelder P, Geschwind DH, Poldrack RA. Detecting network modules in fMRI time series: a weighted network analysis approach.. NeuroImage, 2010.
• Hilton CL, Fitzgerald RT, Jackson KM, Maxim RA, Bosworth CC, Shattuck PT, Geschwind DH, Constantino JN. Brief report: Under-representation of African americans in autism genetic research: a rationale for inclusion of subjects representing diverse family structures.. Journal of autism and developmental disorders, 2010.
• Ross ME, Geschwind D. Genes and the long and winding road to cortical construction and cognition.. Neurobiology of disease, 2010.
• Abrahams BS, Geschwind DH. Connecting genes to brain in the autism spectrum disorders.. Archives of neurology, 2010.
• Sarafian TA, Montes C, Imura T, Qi J, Coppola G, Geschwind DH, Sofroniew MV. Disruption of astrocyte STAT3 signaling decreases mitochondrial function and increases oxidative stress in vitro.. PloS one, 2010.
• Shoemaker LD, Orozco NM, Geschwind DH, Whitelegge JP, Faull KF, Kornblum HI. Identification of differentially expressed proteins in murine embryonic and postnatal cortical neural progenitors.. PloS one, 2010.
• Bartzokis G, Lu PH, Tishler TA, Peters DG, Kosenko A, Barrall KA, Finn JP, Villablanca P, Laub G, Altshuler LL, Geschwind DH, Mintz J, Neely E, Connor JR. Prevalent iron metabolism gene variants associated with increased brain ferritin iron in healthy older men.. Journal of Alzheimer's disease : JAD, 2010.
• Marques F, Sousa JC, Coppola G, Geschwind DH, Sousa N, Palha JA, Correia-Neves M. The choroid plexus response to a repeated peripheral inflammatory stimulus.. BMC neuroscience, 2009.
• Geschwind DH. Autism: the ups and downs of neuroligin.. Biological psychiatry, 2009.
• Konopka G, Bomar JM, Winden K, Coppola G, Jonsson ZO, Gao F, Peng S, Preuss TM, Wohlschlegel JA, Geschwind DH. Human-specific transcriptional regulation of CNS development genes by FOXP2.. Nature, 2009.
• Kadoya K, Tsukada S, Lu P, Coppola G, Geschwind D, Filbin MT, Blesch A, Tuszynski MH. Combined intrinsic and extrinsic neuronal mechanisms facilitate bridging axonal regeneration one year after spinal cord injury.. Neuron, 2009.
• Geschwind DH, Konopka G. Neuroscience in the era of functional genomics and systems biology.. Nature, 2009.
• Ziegler L, Segal-Ruder Y, Coppola G, Reis A, Geschwind D, Fainzilber M, Goldstein RS. A human neuron injury model for molecular studies of axonal regeneration.. Experimental neurology, 2009.
• Winden KD, Oldham MC, Mirnics K, Ebert PJ, Swan CH, Levitt P, Rubenstein JL, Horvath S, Geschwind DH. The organization of the transcriptional network in specific neuronal classes.. Molecular systems biology, 2009.
• Bucan M, Abrahams BS, Wang K, Glessner JT, Herman EI, Sonnenblick LI, Alvarez Retuerto AI, Imielinski M, Hadley D, Bradfield JP, Kim C, Gidaya NB, Lindquist I, Hutman T, Sigman M, Kustanovich V, Lajonchere CM, Singleton A, Kim J, Wassink TH, McMahon WM, Owley T, Sweeney JA, Coon H, Nurnberger JI, Li M, Cantor RM, Minshew NJ, Sutcliffe JS, Cook EH, Dawson G, Buxbaum JD, Grant SF, Schellenberg GD, Geschwind DH, Hakonarson H. Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes.. PLoS genetics, 2009.
• Zai L, Ferrari C, Subbaiah S, Havton LA, Coppola G, Strittmatter S, Irwin N, Geschwind D, Benowitz LI. Inosine alters gene expression and axonal projections in neurons contralateral to a cortical infarct and improves skilled use of the impaired limb.. The Journal of neuroscience : the official journal of the Society for Neuroscience, 2009.
• Pappas DJ, Coppola G, Gabatto PA, Gao F, Geschwind DH, Oksenberg JR, Baranzini SE. Longitudinal system-based analysis of transcriptional responses to type I interferons.. Physiological genomics, 2009.
• Johnson MB, Kawasawa YI, Mason CE, Krsnik Z, Coppola G, Bogdanovic D, Geschwind DH, Mane SM, State MW, Sestan N. Functional and evolutionary insights into human brain development through global transcriptome analysis.. Neuron, 2009.
• Woods DL, Bushnell B, Kim H, Geschwind D, Cummings J. Apolipoprotein epsilon4 status is associated with behavioral symptoms in nursing home residents with dementia.. International psychogeriatrics, 2009.
• Bill BR, Geschwind DH. Genetic advances in autism: heterogeneity and convergence on shared pathways.. Current opinion in genetics & development, 2009.
• Strom SP, Stone JL, Ten Bosch JR, Merriman B, Cantor RM, Geschwind DH, Nelson SF. High-density SNP association study of the 17q21 chromosomal region linked to autism identifies CACNA1G as a novel candidate gene.. Molecular psychiatry, 2009.
• Wexler EM, Paucer A, Kornblum HI, Palmer TD, Plamer TD, Geschwind DH. Endogenous Wnt signaling maintains neural progenitor cell potency.. Stem cells (Dayton, Ohio), 2009.
• Wang K, Zhang H, Ma D, Bucan M, Glessner JT, Abrahams BS, Salyakina D, Imielinski M, Bradfield JP, Sleiman PM, Kim CE, Hou C, Frackelton E, Chiavacci R, Takahashi N, Sakurai T, Rappaport E, Lajonchere CM, Munson J, Estes A, Korvatska O, Piven J, Sonnenblick LI, Alvarez Retuerto AI, Herman EI, Dong H, Hutman T, Sigman M, Ozonoff S, Klin A, Owley T, Sweeney JA, Brune CW, Cantor RM, Bernier R, Gilbert JR, Cuccaro ML, McMahon WM, Miller J, State MW, Wassink TH, Coon H, Levy SE, Schultz RT, Nurnberger JI, Haines JL, Sutcliffe JS, Cook EH, Minshew NJ, Buxbaum JD, Dawson G, Grant SF, Geschwind DH, Pericak-Vance MA, Schellenberg GD, Hakonarson H. Common genetic variants on 5p14.1 associate with autism spectrum disorders.. Nature, 2009.
• Coppola G, Marmolino D, Lu D, Wang Q, Cnop M, Rai M, Acquaviva F, Cocozza S, Pandolfo M, Geschwind DH. Functional genomic analysis of frataxin deficiency reveals tissue-specific alterations and identifies the PPARgamma pathway as a therapeutic target in Friedreich's ataxia.. Human molecular genetics, 2009.
• Criscuolo C, Filla A, Coppola G, Rinaldi C, Carbone R, Pinto S, Wang Q, de Leva MF, Salvatore E, Banfi S, Brunetti A, Quarantelli M, Geschwind DH, Pappatà S, De Michele G. Two novel CYP7B1 mutations in Italian families with SPG5: a clinical and genetic study.. Journal of neurology, 2009.
• Bajpai R, Coppola G, Kaul M, Talantova M, Cimadamore F, Nilbratt M, Geschwind DH, Lipton SA, Terskikh AV. Molecular stages of rapid and uniform neuralization of human embryonic stem cells.. Cell death and differentiation, 2009.
• Kumar RA, Marshall CR, Badner JA, Babatz TD, Mukamel Z, Aldinger KA, Sudi J, Brune CW, Goh G, Karamohamed S, Sutcliffe JS, Cook EH, Geschwind DH, Dobyns WB, Scherer SW, Christian SL. Association and mutation analyses of 16p11.2 autism candidate genes.. PloS one, 2009.
• Marques F, Sousa JC, Coppola G, Falcao AM, Rodrigues AJ, Geschwind DH, Sousa N, Correia-Neves M, Palha JA. Kinetic profile of the transcriptome changes induced in the choroid plexus by peripheral inflammation.. Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and Metabolism, 2009.
• Marques F, Falcao AM, Sousa JC, Coppola G, Geschwind D, Sousa N, Correia-Neves M, Palha JA. Altered iron metabolism is part of the choroid plexus response to peripheral inflammation.. Endocrinology, 2009.
• Nagahara AH, Merrill DA, Coppola G, Tsukada S, Schroeder BE, Shaked GM, Wang L, Blesch A, Kim A, Conner JM, Rockenstein E, Chao MV, Koo EH, Geschwind D, Masliah E, Chiba AA, Tuszynski MH. Neuroprotective effects of brain-derived neurotrophic factor in rodent and primate models of Alzheimer's disease.. Nature medicine, 2009.
• Kelly TK, Karsten SL, Geschwind DH, Kornblum HI. Cell lineage and regional identity of cultured spinal cord neural stem cells and comparison to brain-derived neural stem cells.. PloS one, 2009.
• Geschwind DH. Advances in autism.. Annual review of medicine, 2009.
• Ratan RR, Siddiq A, Aminova L, Langley B, McConoughey S, Karpisheva K, Lee HH, Carmichael T, Kornblum H, Coppola G, Geschwind DH, Hoke A, Smirnova N, Rink C, Roy S, Sen C, Beattie MS, Hart RP, Grumet M, Sun D, Freeman RS, Semenza GL, Gazaryan I. Small molecule activation of adaptive gene expression: tilorone or its analogs are novel potent activators of hypoxia inducible factor-1 that provide prophylaxis against stroke and spinal cord injury.. Annals of the New York Academy of Sciences, 2008.
• Vernes SC, Newbury DF, Abrahams BS, Winchester L, Nicod J, Groszer M, Alarcón M, Oliver PL, Davies KE, Geschwind DH, Monaco AP, Fisher SE. A functional genetic link between distinct developmental language disorders.. The New England journal of medicine, 2008.
• Geschwind DH. Autism: many genes, common pathways?. Cell, 2008.
• Oldham MC, Konopka G, Iwamoto K, Langfelder P, Kato T, Horvath S, Geschwind DH. Functional organization of the transcriptome in human brain.. Nature neuroscience, 2008.
• Schaffer BA, Bertram L, Miller BL, Mullin K, Weintraub S, Johnson N, Bigio EH, Mesulam M, Wiedau-Pazos M, Jackson GR, Cummings JL, Cantor RM, Levey AI, Tanzi RE, Geschwind DH. Association of GSK3B with Alzheimer disease and frontotemporal dementia.. Archives of neurology, 2008.
• Varki A, Geschwind DH, Eichler EE. Explaining human uniqueness: genome interactions with environment, behaviour and culture.. Nature reviews. Genetics, 2008.
• Karsten SL, Kudo LC, Geschwind DH. Gene expression analysis of neural cells and tissues using DNA microarrays.. Current protocols in neuroscience, 2008.
• Loat CS, Curran S, Lewis CM, Duvall J, Geschwind D, Bolton P, Craig IW. Methyl-CpG-binding protein 2 polymorphisms and vulnerability to autism.. Genes, brain, and behavior, 2008.
• Thomas EA, Coppola G, Desplats PA, Tang B, Soragni E, Burnett R, Gao F, Fitzgerald KM, Borok JF, Herman D, Geschwind DH, Gottesfeld JM. The HDAC inhibitor 4b ameliorates the disease phenotype and transcriptional abnormalities in Huntington's disease transgenic mice.. Proceedings of the National Academy of Sciences of the United States of America, 2008.
• Rutherford NJ, Zhang YJ, Baker M, Gass JM, Finch NA, Xu YF, Stewart H, Kelley BJ, Kuntz K, Crook RJ, Sreedharan J, Vance C, Sorenson E, Lippa C, Bigio EH, Geschwind DH, Knopman DS, Mitsumoto H, Petersen RC, Cashman NR, Hutton M, Shaw CE, Boylan KB, Boeve B, Graff-Radford NR, Wszolek ZK, Caselli RJ, Dickson DW, Mackenzie IR, Petrucelli L, Rademakers R. Novel mutations in TARDBP (TDP-43) in patients with familial amyotrophic lateral sclerosis.. PLoS genetics, 2008.
• Alvarez Retuerto AI, Cantor RM, Gleeson JG, Ustaszewska A, Schackwitz WS, Pennacchio LA, Geschwind DH. Association of common variants in the Joubert syndrome gene (AHI1) with autism.. Human molecular genetics, 2008.
• Geschwind DH. Autism: Family connections.. Nature, 2008.
• Miller JE, Spiteri E, Condro MC, Dosumu-Johnson RT, Geschwind DH, White SA. Birdsong decreases protein levels of FoxP2, a molecule required for human speech.. Journal of neurophysiology, 2008.
• Rosen RF, Farberg AS, Gearing M, Dooyema J, Long PM, Anderson DC, Davis-Turak J, Coppola G, Geschwind DH, Paré JF, Duong TQ, Hopkins WD, Preuss TM, Walker LC. Tauopathy with paired helical filaments in an aged chimpanzee.. The Journal of comparative neurology, 2008.
• Carmichael ST, Vespa PM, Saver JL, Coppola G, Geschwind DH, Starkman S, Miller CM, Kidwell CS, Liebeskind DS, Martin NA. Genomic profiles of damage and protection in human intracerebral hemorrhage.. Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and Metabolism, 2008.
• Coppola G, Karydas A, Rademakers R, Wang Q, Baker M, Hutton M, Miller BL, Geschwind DH. Gene expression study on peripheral blood identifies progranulin mutations.. Annals of neurology, 2008.
• Abu-Elneel K, Liu T, Gazzaniga FS, Nishimura Y, Wall DP, Geschwind DH, Lao K, Kosik KS. Heterogeneous dysregulation of microRNAs across the autism spectrum.. Neurogenetics, 2008.
• Ringman JM, Younkin SG, Pratico D, Seltzer W, Cole GM, Geschwind DH, Rodriguez-Agudelo Y, Schaffer B, Fein J, Sokolow S, Rosario ER, Gylys KH, Varpetian A, Medina LD, Cummings JL. Biochemical markers in persons with preclinical familial Alzheimer disease.. Neurology, 2008.
• Dibbens LM, Tarpey PS, Hynes K, Bayly MA, Scheffer IE, Smith R, Bomar J, Sutton E, Vandeleur L, Shoubridge C, Edkins S, Turner SJ, Stevens C, O'Meara S, Tofts C, Barthorpe S, Buck G, Cole J, Halliday K, Jones D, Lee R, Madison M, Mironenko T, Varian J, West S, Widaa S, Wray P, Teague J, Dicks E, Butler A, Menzies A, Jenkinson A, Shepherd R, Gusella JF, Afawi Z, Mazarib A, Neufeld MY, Kivity S, Lev D, Lerman-Sagie T, Korczyn AD, Derry CP, Sutherland GR, Friend K, Shaw M, Corbett M, Kim HG, Geschwind DH, Thomas P, Haan E, Ryan S, McKee S, Berkovic SF, Futreal PA, Stratton MR, Mulley JC, Gécz J. X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment.. Nature genetics, 2008.
• Lange PS, Chavez JC, Pinto JT, Coppola G, Sun CW, Townes TM, Geschwind DH, Ratan RR. ATF4 is an oxidative stress-inducible, prodeath transcription factor in neurons in vitro and in vivo.. The Journal of experimental medicine, 2008.
• Abrahams BS, Geschwind DH. Advances in autism genetics: on the threshold of a new neurobiology.. Nature reviews. Genetics, 2008.
• Cantor RM, Geschwind DH. Schizophrenia: genome, interrupted.. Neuron, 2008.
• Krystal JH, Carter CS, Geschwind D, Manji HK, March JS, Nestler EJ, Zubieta JK, Charney DS, Goldman D, Gur RE, Lieberman JA, Roy-Byrne P, Rubinow DR, Anderson SA, Barondes S, Berman KF, Blair J, Braff DL, Brown ES, Calabrese JR, Carlezon WA, Cook EH, Davidson RJ, Davis M, Desimone R, Drevets WC, Duman RS, Essock SM, Faraone SV, Freedman R, Friston KJ, Gelernter J, Geller B, Gill M, Gould E, Grace AA, Grillon C, Gueorguieva R, Hariri AR, Innis RB, Jones EG, Kleinman JE, Koob GF, Krystal AD, Leibenluft E, Levinson DF, Levitt PR, Lewis DA, Liberzon I, Lipska BK, Marder SR, Markou A, Mason GF, McDougle CJ, McEwen BS, McMahon FJ, Meaney MJ, Meltzer HY, Merikangas KR, Meyer-Lindenberg A, Mirnics K, Monteggia LM, Neumeister A, O'Brien CP, Owen MJ, Pine DS, Rapoport JL, Rauch SL, Robbins TW, Rosenbaum JF, Rosenberg DR, Ross CA, Rush AJ, Sackeim HA, Sanacora G, Schatzberg AF, Shaham Y, Siever LJ, Sunderland T, Tecott LH, Thase ME, Todd RD, Weissman MM, Yehuda R, Yoshikawa T, Young EA, McCandless R. It is time to take a stand for medical research and against terrorism targeting medical scientists.. Biological psychiatry, 2008.
• Rai M, Soragni E, Jenssen K, Burnett R, Herman D, Coppola G, Geschwind DH, Gottesfeld JM, Pandolfo M. HDAC inhibitors correct frataxin deficiency in a Friedreich ataxia mouse model.. PloS one, 2008.
• Miller JA, Oldham MC, Geschwind DH. A systems level analysis of transcriptional changes in Alzheimer's disease and normal aging.. The Journal of neuroscience : the official journal of the Society for Neuroscience, 2008.
• Alarcón M, Abrahams BS, Stone JL, Duvall JA, Perederiy JV, Bomar JM, Sebat J, Wigler M, Martin CL, Ledbetter DH, Nelson SF, Cantor RM, Geschwind DH. Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene.. American journal of human genetics, 2008.
• Nakano I, Masterman-Smith M, Saigusa K, Paucar AA, Horvath S, Shoemaker L, Watanabe M, Negro A, Bajpai R, Howes A, Lelievre V, Waschek JA, Lazareff JA, Freije WA, Liau LM, Gilbertson RJ, Cloughesy TF, Geschwind DH, Nelson SF, Mischel PS, Terskikh AV, Kornblum HI. Maternal embryonic leucine zipper kinase is a key regulator of the proliferation of malignant brain tumors, including brain tumor stem cells.. Journal of neuroscience research, 2008.
• Bakkaloglu B, O'Roak BJ, Louvi A, Gupta AR, Abelson JF, Morgan TM, Chawarska K, Klin A, Ercan-Sencicek AG, Stillman AA, Tanriover G, Abrahams BS, Duvall JA, Robbins EM, Geschwind DH, Biederer T, Gunel M, Lifton RP, State MW. Molecular cytogenetic analysis and resequencing of contactin associated protein-like 2 in autism spectrum disorders.. American journal of human genetics, 2008.
• Wexler EM, Geschwind DH. Out FOXing Parkinson disease: where development meets neurodegeneration.. PLoS biology, 2007.
• Geschwind D. Autism: searching for coherence.. Biological psychiatry, 2007.
• Abrahams BS, Tentler D, Perederiy JV, Oldham MC, Coppola G, Geschwind DH. Genome-wide analyses of human perisylvian cerebral cortical patterning.. Proceedings of the National Academy of Sciences of the United States of America, 2007.
• Vernes SC, Spiteri E, Nicod J, Groszer M, Taylor JM, Davies KE, Geschwind DH, Fisher SE. High-throughput analysis of promoter occupancy reveals direct neural targets of FOXP2, a gene mutated in speech and language disorders.. American journal of human genetics, 2007.
• Spiteri E, Konopka G, Coppola G, Bomar J, Oldham M, Ou J, Vernes SC, Fisher SE, Ren B, Geschwind DH. Identification of the transcriptional targets of FOXP2, a gene linked to speech and language, in developing human brain.. American journal of human genetics, 2007.
• Wexler EM, Geschwind DH, Palmer TD. Lithium regulates adult hippocampal progenitor development through canonical Wnt pathway activation.. Molecular psychiatry, 2007.
• Martin CL, Duvall JA, Ilkin Y, Simon JS, Arreaza MG, Wilkes K, Alvarez-Retuerto A, Whichello A, Powell CM, Rao K, Cook E, Geschwind DH. Cytogenetic and molecular characterization of A2BP1/FOX1 as a candidate gene for autism.. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics, 2007.
• Rademakers R, Baker M, Gass J, Adamson J, Huey ED, Momeni P, Spina S, Coppola G, Karydas AM, Stewart H, Johnson N, Hsiung GY, Kelley B, Kuntz K, Steinbart E, Wood EM, Yu CE, Josephs K, Sorenson E, Womack KB, Weintraub S, Pickering-Brown SM, Schofield PR, Brooks WS, Van Deerlin VM, Snowden J, Clark CM, Kertesz A, Boylan K, Ghetti B, Neary D, Schellenberg GD, Beach TG, Mesulam M, Mann D, Grafman J, Mackenzie IR, Feldman H, Bird T, Petersen R, Knopman D, Boeve B, Geschwind DH, Miller B, Wszolek Z, Lippa C, Bigio EH, Dickson D, Graff-Radford N, Hutton M. Phenotypic variability associated with progranulin haploinsufficiency in patients with the common 1477C-->T (Arg493X) mutation: an international initiative.. The Lancet. Neurology, 2007.
• Marques F, Rodrigues AJ, Sousa JC, Coppola G, Geschwind DH, Sousa N, Correia-Neves M, Palha JA. Lipocalin 2 is a choroid plexus acute-phase protein.. Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and Metabolism, 2007.
• Oliveira JRM, Sobrido MJ, Spiteri E, Hopfer S, Meroni G, Petek E, Baquero M, Geschwind DH. Analysis of Candidate Genes at the IBGC1 Locus Associated with Idiopathic Basal Ganglia Calcification ("Fahr" Disease').. Journal of molecular neuroscience : MN, 2007.
• Francks C, Maegawa S, Laurén J, Abrahams BS, Velayos-Baeza A, Medland SE, Colella S, Groszer M, McAuley EZ, Caffrey TM, Timmusk T, Pruunsild P, Koppel I, Lind PA, Matsumoto-Itaba N, Nicod J, Xiong L, Joober R, Enard W, Krinsky B, Nanba E, Richardson AJ, Riley BP, Martin NG, Strittmatter SM, Möller HJ, Rujescu D, St Clair D, Muglia P, Roos JL, Fisher SE, Wade-Martins R, Rouleau GA, Stein JF, Karayiorgou M, Geschwind DH, Ragoussis J, Kendler KS, Airaksinen MS, Oshimura M, DeLisi LE, Monaco AP. LRRTM1 on chromosome 2p12 is a maternally suppressed gene that is associated paternally with handedness and schizophrenia.. Molecular psychiatry, 2007.
• Zhao X, Leotta A, Kustanovich V, Lajonchere C, Geschwind DH, Law K, Law P, Qiu S, Lord C, Sebat J, Ye K, Wigler M. A unified genetic theory for sporadic and inherited autism.. Proceedings of the National Academy of Sciences of the United States of America, 2007.
• Bartzokis G, Lu PH, Geschwind DH, Tingus K, Huang D, Mendez MF, Edwards N, Mintz J. Apolipoprotein E affects both myelin breakdown and cognition: implications for age-related trajectories of decline into dementia.. Biological psychiatry, 2007.
• Wiedau-Pazos M, Wong E, Solomon E, Alarcon M, Geschwind DH. Wnt-pathway activation during the early stage of neurodegeneration in FTDP-17 mice.. Neurobiology of aging, 2007.
• Ringman JM, O'Neill J, Geschwind D, Medina L, Apostolova LG, Rodriguez Y, Schaffer B, Varpetian A, Tseng B, Ortiz F, Fitten J, Cummings JL, Bartzokis G. Diffusion tensor imaging in preclinical and presymptomatic carriers of familial Alzheimer's disease mutations.. Brain : a journal of neurology, 2007.
• Nishimura Y, Martin CL, Vazquez-Lopez A, Spence SJ, Alvarez-Retuerto AI, Sigman M, Steindler C, Pellegrini S, Schanen NC, Warren ST, Geschwind DH. Genome-wide expression profiling of lymphoblastoid cell lines distinguishes different forms of autism and reveals shared pathways.. Human molecular genetics, 2007.
• Nakano I, Dougherty JD, Kim K, Klement I, Geschwind DH, Kornblum HI. Phosphoserine phosphatase is expressed in the neural stem cell niche and regulates neural stem and progenitor cell proliferation.. Stem cells (Dayton, Ohio), 2007.
• Duvall JA, Lu A, Cantor RM, Todd RD, Constantino JN, Geschwind DH. A quantitative trait locus analysis of social responsiveness in multiplex autism families.. The American journal of psychiatry, 2007.
• Stone JL, Merriman B, Cantor RM, Geschwind DH, Nelson SF. High density SNP association study of a major autism linkage region on chromosome 17.. Human molecular genetics, 2007.
• Sebat J, Lakshmi B, Malhotra D, Troge J, Lese-Martin C, Walsh T, Yamrom B, Yoon S, Krasnitz A, Kendall J, Leotta A, Pai D, Zhang R, Lee YH, Hicks J, Spence SJ, Lee AT, Puura K, Lehtimäki T, Ledbetter D, Gregersen PK, Bregman J, Sutcliffe JS, Jobanputra V, Chung W, Warburton D, King MC, Skuse D, Geschwind DH, Gilliam TC, Ye K, Wigler M. Strong association of de novo copy number mutations with autism.. Science (New York, N.Y.), 2007.
• Autism Genome Project Consortium, Szatmari P, Paterson AD, Zwaigenbaum L, Roberts W, Brian J, Liu XQ, Vincent JB, Skaug JL, Thompson AP, Senman L, Feuk L, Qian C, Bryson SE, Jones MB, Marshall CR, Scherer SW, Vieland VJ, Bartlett C, Mangin LV, Goedken R, Segre A, Pericak-Vance MA, Cuccaro ML, Gilbert JR, Wright HH, Abramson RK, Betancur C, Bourgeron T, Gillberg C, Leboyer M, Buxbaum JD, Davis KL, Hollander E, Silverman JM, Hallmayer J, Lotspeich L, Sutcliffe JS, Haines JL, Folstein SE, Piven J, Wassink TH, Sheffield V, Geschwind DH, Bucan M, Brown WT, Cantor RM, Constantino JN, Gilliam TC, Herbert M, Lajonchere C, Ledbetter DH, Lese-Martin C, Miller J, Nelson S, Samango-Sprouse CA, Spence S, State M, Tanzi RE, Coon H, Dawson G, Devlin B, Estes A, Flodman P, Klei L, McMahon WM, Minshew N, Munson J, Korvatska E, Rodier PM, Schellenberg GD, Smith M, Spence MA, Stodgell C, Tepper PG, Wijsman EM, Yu CE, Rogé B, Mantoulan C, Wittemeyer K, Poustka A, Felder B, Klauck SM, Schuster C, Poustka F, Bölte S, Feineis-Matthews S, Herbrecht E, Schmötzer G, Tsiantis J, Papanikolaou K, Maestrini E, Bacchelli E, Blasi F, Carone S, Toma C, Van Engeland H, de Jonge M, Kemner C, Koop F, Koop F, Langemeijer M, Langemeijer M, Hijmans C, Hijimans C, Staal WG, Baird G, Bolton PF, Rutter ML, Weisblatt E, Green J, Aldred C, Wilkinson JA, Pickles A, Le Couteur A, Berney T, McConachie H, Bailey AJ, Francis K, Honeyman G, Hutchinson A, Parr JR, Wallace S, Monaco AP, Barnby G, Kobayashi K, Lamb JA, Sousa I, Sykes N, Cook EH, Guter SJ, Leventhal BL, Salt J, Lord C, Corsello C, Hus V, Weeks DE, Volkmar F, Tauber M, Fombonne E, Shih A, Meyer KJ. Mapping autism risk loci using genetic linkage and chromosomal rearrangements.. Nature genetics, 2007.
• Geschwind DH, Levitt P. Autism spectrum disorders: developmental disconnection syndromes.. Current opinion in neurobiology, 2007.
• Rodrigues AJ, Coppola G, Santos C, Costa Mdo C, Ailion M, Sequeiros J, Geschwind DH, Maciel P. Functional genomics and biochemical characterization of the C. elegans orthologue of the Machado-Joseph disease protein ataxin-3.. FASEB journal : official publication of the Federation of American Societies for Experimental Biology, 2007.
• Oliveira JR, Sobrido MJ, Spiteri E, Hopfer S, Meroni G, Petek E, Baquero M, Geschwind DH. Analysis of candidate genes at the IBGC1 locus associated with idiopathic basal ganglia calcification ("Fahr's disease").. Journal of molecular neuroscience : MN, 2007.
• Poon MM, Choi SH, Jamieson CA, Geschwind DH, Martin KC. Identification of process-localized mRNAs from cultured rodent hippocampal neurons.. The Journal of neuroscience : the official journal of the Society for Neuroscience, 2006.
• Sengupta S, Horowitz PM, Karsten SL, Jackson GR, Geschwind DH, Fu Y, Berry RW, Binder LI. Degradation of tau protein by puromycin-sensitive aminopeptidase in vitro.. Biochemistry, 2006.
• Kudo LC, Karsten SL, Chen J, Levitt P, Geschwind DH. Genetic analysis of anterior posterior expression gradients in the developing mammalian forebrain.. Cerebral cortex (New York, N.Y. : 1991), 2006.
• Oldham MC, Horvath S, Geschwind DH. Conservation and evolution of gene coexpression networks in human and chimpanzee brains.. Proceedings of the National Academy of Sciences of the United States of America, 2006.
• Horvath S, Zhang B, Carlson M, Lu KV, Zhu S, Felciano RM, Laurance MF, Zhao W, Qi S, Chen Z, Lee Y, Scheck AC, Liau LM, Wu H, Geschwind DH, Febbo PG, Kornblum HI, Cloughesy TF, Nelson SF, Mischel PS. Analysis of oncogenic signaling networks in glioblastoma identifies ASPM as a molecular target.. Proceedings of the National Academy of Sciences of the United States of America, 2006.
• White SA, Fisher SE, Geschwind DH, Scharff C, Holy TE. Singing mice, songbirds, and more: models for FOXP2 function and dysfunction in human speech and language.. The Journal of neuroscience : the official journal of the Society for Neuroscience, 2006.
• Karsten SL, Sang TK, Gehman LT, Chatterjee S, Liu J, Lawless GM, Sengupta S, Berry RW, Pomakian J, Oh HS, Schulz C, Hui KS, Wiedau-Pazos M, Vinters HV, Binder LI, Geschwind DH, Jackson GR. A genomic screen for modifiers of tauopathy identifies puromycin-sensitive aminopeptidase as an inhibitor of tau-induced neurodegeneration.. Neuron, 2006.
• Spence SJ, Cantor RM, Chung L, Kim S, Geschwind DH, Alarcón M. Stratification based on language-related endophenotypes in autism: attempt to replicate reported linkage.. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics, 2006.
• Coppola G, Geschwind DH. Microarrays and the microscope: balancing throughput with resolution.. The Journal of physiology, 2006.
• Oldham MC, Geschwind DH. Comparative genomics: grasping human transcriptome evolution: what does it all mean?. Heredity, 2006.
• Coppola G, Geschwind DH. Technology Insight: querying the genome with microarrays--progress and hope for neurological disease.. Nature clinical practice. Neurology, 2006.
• Lobo MK, Karsten SL, Gray M, Geschwind DH, Yang XW. FACS-array profiling of striatal projection neuron subtypes in juvenile and adult mouse brains.. Nature neuroscience, 2006.
• Chen GK, Kono N, Geschwind DH, Cantor RM. Quantitative trait locus analysis of nonverbal communication in autism spectrum disorder.. Molecular psychiatry, 2006.
• Coppola G, Choi SH, Santos MM, Miranda CJ, Tentler D, Wexler EM, Pandolfo M, Geschwind DH. Gene expression profiling in frataxin deficient mice: microarray evidence for significant expression changes without detectable neurodegeneration.. Neurobiology of disease, 2006.
• Bartzokis G, Lu PH, Geschwind DH, Edwards N, Mintz J, Cummings JL. Apolipoprotein E genotype and age-related myelin breakdown in healthy individuals: implications for cognitive decline and dementia.. Archives of general psychiatry, 2006.
• Oldham MC, Geschwind DH. Deconstructing language by comparative gene expression: from neurobiology to microarray.. Genes, brain, and behavior, 2006.
• Geschwind D. From genes to neurons to brain.. Genes, brain, and behavior, 2006.
• Ylisaukko-oja T, Alarcón M, Cantor RM, Auranen M, Vanhala R, Kempas E, von Wendt L, Järvelä I, Geschwind DH, Peltonen L. Search for autism loci by combined analysis of Autism Genetic Resource Exchange and Finnish families.. Annals of neurology, 2006.
• Groszer M, Erickson R, Scripture-Adams DD, Dougherty JD, Le Belle J, Zack JA, Geschwind DH, Liu X, Kornblum HI, Wu H. PTEN negatively regulates neural stem cell self-renewal by modulating G0-G1 cell cycle entry.. Proceedings of the National Academy of Sciences of the United States of America, 2005.
• Bhidayasiri R, Perlman SL, Pulst SM, Geschwind DH. Late-onset Friedreich ataxia: phenotypic analysis, magnetic resonance imaging findings, and review of the literature.. Archives of neurology, 2005.
• Jarvik LF, La Rue A, Gokhman I, Harrison T, Holt L, Steh B, Harker J, Larson S, Yaralian P, Matsuyama S, Rasgon N, Geschwind D, Freimer N, Jimenez E, Schaeffer J. Middle-aged children of Alzheimer parents, a pilot study: stable neurocognitive performance at 20-year follow-up.. Journal of geriatric psychiatry and neurology, 2005.
• Dougherty JD, Garcia AD, Nakano I, Livingstone M, Norris B, Polakiewicz R, Wexler EM, Sofroniew MV, Kornblum HI, Geschwind DH. PBK/TOPK, a proliferating neural progenitor-specific mitogen-activated protein kinase kinase.. The Journal of neuroscience : the official journal of the Society for Neuroscience, 2005.
• Nakano I, Paucar AA, Bajpai R, Dougherty JD, Zewail A, Kelly TK, Kim KJ, Ou J, Groszer M, Imura T, Freije WA, Nelson SF, Sofroniew MV, Wu H, Liu X, Terskikh AV, Geschwind DH, Kornblum HI. Maternal embryonic leucine zipper kinase (MELK) regulates multipotent neural progenitor proliferation.. The Journal of cell biology, 2005.
• Alarcón M, Yonan AL, Gilliam TC, Cantor RM, Geschwind DH. Quantitative genome scan and Ordered-Subsets Analysis of autism endophenotypes support language QTLs.. Molecular psychiatry, 2005.
• Sun T, Patoine C, Abu-Khalil A, Visvader J, Sum E, Cherry TJ, Orkin SH, Geschwind DH, Walsh CA. Early asymmetry of gene transcription in embryonic human left and right cerebral cortex.. Science (New York, N.Y.), 2005.
• Oldham MC, Geschwind DH. Evolutionary genetics: the human brain -- adaptation at many levels.. European journal of human genetics : EJHG, 2005.
• Cantor RM, Kono N, Duvall JA, Alvarez-Retuerto A, Stone JL, Alarcón M, Nelson SF, Geschwind DH. Replication of autism linkage: fine-mapping peak at 17q21.. American journal of human genetics, 2005.
• Karsten SL, Geschwind DH. Exercise your amyloid.. Cell, 2005.
• Dougherty JD, Geschwind DH. Progress in realizing the promise of microarrays in systems neurobiology.. Neuron, 2005.
• Oliveira JR, Spiteri E, Sobrido MJ, Hopfer S, Klepper J, Voit T, Gilbert J, Wszolek ZK, Calne DB, Stoessl AJ, Hutton M, Manyam BV, Boller F, Baquero M, Geschwind DH. Genetic heterogeneity in familial idiopathic basal ganglia calcification (Fahr disease).. Neurology, 2004.
• Preuss TM, Cáceres M, Oldham MC, Geschwind DH. Human brain evolution: insights from microarrays.. Nature reviews. Genetics, 2004.
• Stone JL, Merriman B, Cantor RM, Yonan AL, Gilliam TC, Geschwind DH, Nelson SF. Evidence for sex-specific risk alleles in autism spectrum disorder.. American journal of human genetics, 2004.
• Schwarzbraun T, Vincent JB, Schumacher A, Geschwind DH, Oliveira J, Windpassinger C, Ofner L, Ledinegg MK, Kroisel PM, Wagner K, Petek E. Cloning, genomic structure, and expression profiles of TULIP1 (GARNL1), a brain-expressed candidate gene for 14q13-linked neurological phenotypes, and its murine homologue.. Genomics, 2004.
• Assal F, Alarcón M, Solomon EC, Masterman D, Geschwind DH, Cummings JL. Association of the serotonin transporter and receptor gene polymorphisms in neuropsychiatric symptoms in Alzheimer disease.. Archives of neurology, 2004.
• Abu-Khalil A, Fu L, Grove EA, Zecevic N, Geschwind DH. Wnt genes define distinct boundaries in the developing human brain: implications for human forebrain patterning.. The Journal of comparative neurology, 2004.
• Jen JC, Chan WM, Bosley TM, Wan J, Carr JR, Rüb U, Shattuck D, Salamon G, Kudo LC, Ou J, Lin DD, Salih MA, Kansu T, Al Dhalaan H, Al Zayed Z, MacDonald DB, Stigsby B, Plaitakis A, Dretakis EK, Gottlob I, Pieh C, Traboulsi EI, Wang Q, Wang L, Andrews C, Yamada K, Demer JL, Karim S, Alger JR, Geschwind DH, Deller T, Sicotte NL, Nelson SF, Baloh RW, Engle EC. Mutations in a human ROBO gene disrupt hindbrain axon pathway crossing and morphogenesis.. Science (New York, N.Y.), 2004.
• Teramitsu I, Kudo LC, London SE, Geschwind DH, White SA. Parallel FoxP1 and FoxP2 expression in songbird and human brain predicts functional interaction.. The Journal of neuroscience : the official journal of the Society for Neuroscience, 2004.
• Bragin A, Karsten SL, Almajano J, Wilson CL, Geschwind DH, Engel J. Large-scale microarray gene expression analysis in discrete electrophysiologically identified neuronal clusters.. Journal of neuroscience methods, 2004.
• Geschwind D. GENSAT: a genomic resource for neuroscience research.. The Lancet. Neurology, 2004.
• Hedlund E, Karsten SL, Kudo L, Geschwind DH, Carpenter EM. Identification of a Hoxd10-regulated transcriptional network and combinatorial interactions with Hoxa10 during spinal cord development.. Journal of neuroscience research, 2004.
• Karsten SL, Kudo LC, Geschwind DH. Microarray platforms: introduction and application to neurobiology.. International review of neurobiology, 2004.
• Easterday MC, Dougherty JD, Jackson RL, Ou J, Nakano I, Paucar AA, Roobini B, Dianati M, Irvin DK, Weissman IL, Terskikh AV, Geschwind DH, Kornblum HI. Neural progenitor genes. Germinal zone expression and analysis of genetic overlap in stem cell populations.. Developmental biology, 2003.
• Hemmati HD, Nakano I, Lazareff JA, Masterman-Smith M, Geschwind DH, Bronner-Fraser M, Kornblum HI. Cancerous stem cells can arise from pediatric brain tumors.. Proceedings of the National Academy of Sciences of the United States of America, 2003.
• Itti E, Gaw Gonzalo IT, Boone KB, Geschwind DH, Berman N, Pawlikowska-Haddal A, Itti L, Mishkin FS, Swerdloff RS. Functional neuroimaging provides evidence of anomalous cerebral laterality in adults with Klinefelter's syndrome.. Annals of neurology, 2003.
• Simpson JL, de la Cruz F, Swerdloff RS, Samango-Sprouse C, Skakkebaek NE, Graham JM, Hassold T, Aylstock M, Meyer-Bahlburg HF, Willard HF, Hall JG, Salameh W, Boone K, Staessen C, Geschwind D, Giedd J, Dobs AS, Rogol A, Brinton B, Paulsen CA. Klinefelter syndrome: expanding the phenotype and identifying new research directions.. Genetics in medicine : official journal of the American College of Medical Genetics, 2003.
• Geschwind DH. Tau phosphorylation, tangles, and neurodegeneration: the chicken or the egg?. Neuron, 2003.
• Cáceres M, Lachuer J, Zapala MA, Redmond JC, Kudo L, Geschwind DH, Lockhart DJ, Preuss TM, Barlow C. Elevated gene expression levels distinguish human from non-human primate brains.. Proceedings of the National Academy of Sciences of the United States of America, 2003.
• Yonan AL, Alarcón M, Cheng R, Magnusson PK, Spence SJ, Palmer AA, Grunn A, Juo SH, Terwilliger JD, Liu J, Cantor RM, Geschwind DH, Gilliam TC. A genomewide screen of 345 families for autism-susceptibility loci.. American journal of human genetics, 2003.
• Karsten SL, Kudo LC, Jackson R, Sabatti C, Kornblum HI, Geschwind DH. Global analysis of gene expression in neural progenitors reveals specific cell-cycle, signaling, and metabolic networks.. Developmental biology, 2003.
• Fales CL, Knowlton BJ, Holyoak KJ, Geschwind DH, Swerdloff RS, Gonzalo IG. Working memory and relational reasoning in Klinefelter syndrome.. Journal of the International Neuropsychological Society : JINS, 2003.
• Compton P, Geschwind DH, Alarcón M. Association between human mu-opioid receptor gene polymorphism, pain tolerance, and opioid addiction.. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics, 2003.
• Fu L, Abu-Khalil A, Morrison RS, Geschwind DH, Kornblum HI. Expression patterns of epidermal growth factor receptor and fibroblast growth factor receptor 1 mRNA in fetal human brain.. The Journal of comparative neurology, 2003.
• Geschwind DH. DNA microarrays: translation of the genome from laboratory to clinic.. The Lancet. Neurology, 2003.
• Sobrido MJ, Miller BL, Havlioglu N, Zhukareva V, Jiang Z, Nasreddine ZS, Lee VM, Chow TW, Wilhelmsen KC, Cummings JL, Wu JY, Geschwind DH. Novel tau polymorphisms, tau haplotypes, and splicing in familial and sporadic frontotemporal dementia.. Archives of neurology, 2003.
• Sobrido MJ, Abu-Khalil A, Weintraub S, Johnson N, Quinn B, Cummings JL, Mesulam MM, Geschwind DH. Possible association of the tau H1/H1 genotype with primary progressive aphasia.. Neurology, 2003.
• Schaffer B, Wiedau-Pazos M, Geschwind DH. Gene structure and alternative splicing of glycogen synthase kinase 3 beta (GSK-3beta) in neural and non-neural tissues.. Gene, 2003.
• Bird T, Knopman D, VanSwieten J, Rosso S, Feldman H, Tanabe H, Graff-Raford N, Geschwind D, Verpillat P, Hutton M. Epidemiology and genetics of frontotemporal dementia/Pick's disease.. Annals of neurology, 2003.
• Dougherty JD, Geschwind DH. Subtraction-coupled custom microarray analysis for gene discovery and gene expression studies in the CNS.. Chemical senses, 2002.
• Sabatti C, Karsten SL, Geschwind DH. Thresholding rules for recovering a sparse signal from microarray experiments.. Mathematical biosciences, 2002.
• Geschwind DH, Miller BL, DeCarli C, Carmelli D. Heritability of lobar brain volumes in twins supports genetic models of cerebral laterality and handedness.. Proceedings of the National Academy of Sciences of the United States of America, 2002.
• Karsten SL, Van Deerlin VM, Sabatti C, Gill LH, Geschwind DH. An evaluation of tyramide signal amplification and archived fixed and frozen tissue in microarray gene expression analysis.. Nucleic acids research, 2002.
• Alarcón M, Cantor RM, Liu J, Gilliam TC, Geschwind DH, Autism Genetic Research Exchange Consortium. Evidence for a language quantitative trait locus on chromosome 7q in multiplex autism families.. American journal of human genetics, 2001.
• Geschwind DH, Robidoux J, Alarcón M, Miller BL, Wilhelmsen KC, Cummings JL, Nasreddine ZS. Dementia and neurodevelopmental predisposition: cognitive dysfunction in presymptomatic subjects precedes dementia by decades in frontotemporal dementia.. Annals of neurology, 2001.
• Kornblum HI, Geschwind DH. Molecular markers in CNS stem cell research: hitting a moving target.. Nature reviews. Neuroscience, 2001.
• Cholfin JA, Sobrido MJ, Perlman S, Pulst SM, Geschwind DH. The SCA12 mutation as a rare cause of spinocerebellar ataxia.. Archives of neurology, 2001.
• Sobrido MJ, Cholfin JA, Perlman S, Pulst SM, Geschwind DH. SCA8 repeat expansions in ataxia: a controversial association.. Neurology, 2001.
• Figueroa KP, Chan P, Schöls L, Tanner C, Riess O, Perlman SL, Geschwind DH, Pulst SM. Association of moderate polyglutamine tract expansions in the slow calcium-activated potassium channel type 3 with ataxia.. Archives of neurology, 2001.
• Geschwind DH, Sowinski J, Lord C, Iversen P, Shestack J, Jones P, Ducat L, Spence SJ, AGRE Steering Committee. The autism genetic resource exchange: a resource for the study of autism and related neuropsychiatric conditions.. American journal of human genetics, 2001.
• Geschwind DH, Miller BL. Molecular approaches to cerebral laterality: development and neurodegeneration.. American journal of medical genetics, 2001.
• Liu J, Nyholt DR, Magnussen P, Parano E, Pavone P, Geschwind D, Lord C, Iversen P, Hoh J, Ott J, Gilliam TC, Autism Genetic Resource Exchange Consortium. A genomewide screen for autism susceptibility loci.. American journal of human genetics, 2001.
• Terskikh AV, Easterday MC, Li L, Hood L, Kornblum HI, Geschwind DH, Weissman IL. From hematopoiesis to neuropoiesis: evidence of overlapping genetic programs.. Proceedings of the National Academy of Sciences of the United States of America, 2001.
• Geschwind DH. Sharing gene expression data: an array of options.. Nature reviews. Neuroscience, 2001.
• Boone KB, Swerdloff RS, Miller BL, Geschwind DH, Razani J, Lee A, Gonzalo IG, Haddal A, Rankin K, Lu P, Paul L. Neuropsychological profiles of adults with Klinefelter syndrome.. Journal of the International Neuropsychological Society : JINS, 2001.
• Luo Z, Geschwind DH. Microarray applications in neuroscience.. Neurobiology of disease, 2001.
• Geschwind DH, Ou J, Easterday MC, Dougherty JD, Jackson RL, Chen Z, Antoine H, Terskikh A, Weissman IL, Nelson SF, Kornblum HI. A genetic analysis of neural progenitor differentiation.. Neuron, 2001.
• Jen J, Geschwind DH. Ataxia and calcium channels: what a headache!. Archives of neurology, 2001.
• Wilhelmsen KC, Miller B, Geschwind D. Commentary.. Neurobiology of aging, 2001.
• Buée L, Delacourte A, Wilhelmsen KC, Miller B, Geschwind D. Neuronal subpopulations and genetic background in tauopathies: a catch 22 story?. Neurobiology of aging, 2001.
• Geschwind DH. Mice, microarrays, and the genetic diversity of the brain.. Proceedings of the National Academy of Sciences of the United States of America, 2000.
• Geschwind DH, Boone KB, Miller BL, Swerdloff RS. Neurobehavioral phenotype of Klinefelter syndrome.. Mental retardation and developmental disabilities research reviews, 2000.
• Geschwind DH, Loginov M, Stern JM. Identification of a locus on chromosome 14q for idiopathic basal ganglia calcification (Fahr disease).. American journal of human genetics, 1999.
• Chow TW, Miller BL, Hayashi VN, Geschwind DH. Inheritance of frontotemporal dementia.. Archives of neurology, 1999.
• Nasreddine ZS, Loginov M, Clark LN, Lamarche J, Miller BL, Lamontagne A, Zhukareva V, Lee VM, Wilhelmsen KC, Geschwind DH. From genotype to phenotype: a clinical pathological, and biochemical investigation of frontotemporal dementia and parkinsonism (FTDP-17) caused by the P301L tau mutation.. Annals of neurology, 1999.
• Geschwind DH. Founders and CAG repeats: cause or effect?. Neurology, 1999.
• Geschwind DH. Focusing attention on cognitive impairment in spinocerebellar ataxia.. Archives of neurology, 1999.
• Wilhelmsen KC, Clark LN, Miller BL, Geschwind DH. Tau mutations in frontotemporal dementia.. Dementia and geriatric cognitive disorders, 1999.
• Hong M, Zhukareva V, Vogelsberg-Ragaglia V, Wszolek Z, Reed L, Miller BI, Geschwind DH, Bird TD, McKeel D, Goate A, Morris JC, Wilhelmsen KC, Schellenberg GD, Trojanowski JQ, Lee VM. Mutation-specific functional impairments in distinct tau isoforms of hereditary FTDP-17.. Science (New York, N.Y.), 1998.
• Clark LN, Poorkaj P, Wszolek Z, Geschwind DH, Nasreddine ZS, Miller B, Li D, Payami H, Awert F, Markopoulou K, Andreadis A, D'Souza I, Lee VM, Reed L, Trojanowski JQ, Zhukareva V, Bird T, Schellenberg G, Wilhelmsen KC. Pathogenic implications of mutations in the tau gene in pallido-ponto-nigral degeneration and related neurodegenerative disorders linked to chromosome 17.. Proceedings of the National Academy of Sciences of the United States of America, 1998.
• Buttner N, Geschwind D, Jen JC, Perlman S, Pulst SM, Baloh RW. Oculomotor phenotypes in autosomal dominant ataxias.. Archives of neurology, 1998.
• Geschwind D, Karrim J, Nelson SF, Miller B. The apolipoprotein E epsilon4 allele is not a significant risk factor for frontotemporal dementia.. Annals of neurology, 1998.
• Weinstein J, Karim J, Geschwind DH, Nelson SF, Krumm J, Sakamoto KM. Genomic organization, 5' flanking enhancer region, and chromosomal assignment of the cell cycle gene, p55Cdc.. Molecular genetics and metabolism, 1998.
• Geschwind DH, Gregg J, Boone K, Karrim J, Pawlikowska-Haddal A, Rao E, Ellison J, Ciccodicola A, D'Urso M, Woods R, Rappold GA, Swerdloff R, Nelson SF. Klinefelter's syndrome as a model of anomalous cerebral laterality: testing gene dosage in the X chromosome pseudoautosomal region using a DNA microarray.. Developmental genetics, 1998.
• Geschwind DH, Perlman S, Figueroa KP, Karrim J, Baloh RW, Pulst SM. Spinocerebellar ataxia type 6. Frequency of the mutation and genotype-phenotype correlations.. Neurology, 1997.
• Geschwind DH, Perlman S, Grody WW, Telatar M, Montermini L, Pandolfo M, Gatti RA. Friedreich's ataxia GAA repeat expansion in patients with recessive or sporadic ataxia.. Neurology, 1997.
• Parent JM, Yu TW, Leibowitz RT, Geschwind DH, Sloviter RS, Lowenstein DH. Dentate granule cell neurogenesis is increased by seizures and contributes to aberrant network reorganization in the adult rat hippocampus.. The Journal of neuroscience : the official journal of the Society for Neuroscience, 1997.
• Geschwind DH, Perlman S, Figueroa CP, Treiman LJ, Pulst SM. The prevalence and wide clinical spectrum of the spinocerebellar ataxia type 2 trinucleotide repeat in patients with autosomal dominant cerebellar ataxia.. American journal of human genetics, 1997.
• Geschwind DH, Kelly GM, Fryer H, Feeser-Bhatt H, Hockfield S. Identification and characterization of novel developmentally regulated proteins in rat spinal cord.. Brain research. Developmental brain research, 1996.
• Geschwind DH, Thormodsson FR, Hockfield S. Changes in protein expression during neural development analyzed by two-dimensional gel electrophoresis.. Electrophoresis, 1996.
• Geschwind DH, Rhee R, Nelson SF. A biotinylated MutS fusion protein and its use in a rapid mutation screening technique.. Genetic analysis : biomolecular engineering, 1996.
• Minturn JE, Fryer HJ, Geschwind DH, Hockfield S. TOAD-64, a gene expressed early in neuronal differentiation in the rat, is related to unc-33, a C. elegans gene involved in axon outgrowth.. The Journal of neuroscience : the official journal of the Society for Neuroscience, 1995.
• Minturn JE, Geschwind DH, Fryer HJ, Hockfield S. Early postmitotic neurons transiently express TOAD-64, a neural specific protein.. The Journal of comparative neurology, 1995.
• Geschwind DH, Iacoboni M, Mega MS, Zaidel DW, Cloughesy T, Zaidel E. Alien hand syndrome: interhemispheric motor disconnection due to a lesion in the midbody of the corpus callosum.. Neurology, 1995.
• Geschwind DH, FitzPatrick M, Mischel PS, Cummings JL. Sneddon's syndrome is a thrombotic vasculopathy: neuropathologic and neuroradiologic evidence.. Neurology, 1995.
• Geschwind DH, Hockfield S. Identification of proteins that are developmentally regulated during early cerebral corticogenesis in the rat.. The Journal of neuroscience : the official journal of the Society for Neuroscience, 1989.
• Lidow MS, Goldman-Rakic PS, Gallager DW, Geschwind DH, Rakic P. Distribution of major neurotransmitter receptors in the motor and somatosensory cortex of the rhesus monkey.. Neuroscience, 1989.