Publications

2018

• Olsen L, Sparso T, Weinsheimer SM, ... Geschwind DH, ... Werge T (2018). 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. Lancet Psychiatry [Epub ahead of print].
• Schwede M, Nagpal S, Gandal MJ, ... Geschwind DH, Morrow EM (2018). Strong correlation of downregulated genes related to synaptic transmission and mitochondria in post-mortem autism cerebral cortex. J Neurodev Disord 10(1):18.
• Meeter LHH, Gendron TF, Sias AC, ... Geschwind DH, ... Lee SE (2018). Poly(GP), neurofilament and grey matter deficits in C9orf72 expansion carriers. Ann Clin Transl Neurol 5(5):583-597.
• Cantor RM, Navarro L, Won H, Walker RL, Lowe JK, Geschwind DH (2018). ASD restricted and repetitive behaviors associated at 17q21.33: genes prioritized by expression in fetal brains. Mol Psychiatry 23(4):993-1000.
• Gusev A, Mancuso N, Won H, ... Geschwind DH, ... Price AL (2018). Transcriptome-wide association study of schizophrenia and chromatin activity yields mechanistic disease insights. Nat Genet 50(4):538-548.
• Short PJ, McRae JF, Gallone G, ... Geschwind DH, ... Hurles ME (2018). De novo mutations in regulatory elements in neurodevelopmental disorders. Nature 555(7698):611-616.
• Sanders SJ, Neale BM, Huang H, ... Geschwind DH, ... Whole Genome Sequencing for Psychiatric Disorders (WGSPD) (2018). Whole genome sequencing in psychiatric disorders: the WGSPD consortium. Nat Neurosci [Epub ahead of print].
• Allen M, Wang X, Burgess JD, ... Geschwind DH, ... Ertekin-Taner N (2018). Conserved brain myelination networks are altered in Alzheimer's and other neurodegenerative diseases. Alzheimers Dement 14(3):352-366.
• Pardinas AF, Holmans P, Pocklington AJ, ... Geschwind DH, ... CRESTAR Consortium (2018). Common schizophrenia alleles are enriched in mutation-intolerant genes and in regions under strong background selection. Nat Genet 50(3)381-389.
• Gandal MJ, Haney JR, Parikshak NN, Leppa V, Ramaswami G, Hartl C, ..., Geschwind DH (2018). Shared molecular neuropathology across major psychiatric disorders parallels polygenic overlap. Science. 359: 693-697.
• de la Torre-Ubieta L, Stein JL, Won H, Opland CK, Liang D, Lu D, Geschwind DH (2018). The Dynamic Landscape of Open Chromatin during Human Cortical Neurogenesis. Cell. 172(1-2): 289-304.
• Geschwind DH, Paulson HL, Klein C. Preface. Handb Clin Neurol. 147: ix-x.
• Geschwind DH (2018). Evolving views of human genetic variation and its relationship to neurologic and psychiatric disease. Handb Clin Neurol. 147: 37-42
• Ramaswami G, Geschwind DH (2018). Genetics of autism spectrum disorder. Handb Clin Neurol. 147: 321-329.

2017

• Sims R, van der Lee SJ, Naj AC, ..., Geschwind DH, ..., Schellenberg GD (2017). Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease. Nature Genetics. 49(9): 1373-1384.
• Carter CS, Bearden CE, Bullmore ET, Geschwind DH, Glahn DC, Gur RE, Meyer-Lindenberg A, Weinberger DR (2017). Enhancing the Informativeness and Replicability of Imaging Genomics Studies. Biological Psychiatry. 82(3): 157-164.
• Hernandez LM, Krasileva K, Green SA, Sherman LE, Ponting C, McCarron R, Lowe JK, Geschwind DH, Bookheimer SY, Dapretto M (2017). Additive effects of oxytocin receptor gene polymorphisms on reward circuitry in youth with autism. Molecular Psychiatry. 22(8): 1134-1139.
• 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 (2017). The contribution of rare variants to risk of schizophrenia in individuals with and without intellectual disability. Nature Genetics. 49(8): 1167-1173.
• 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 (2017). Brain calcifications and PCDH12 variants. Neurology Genetics. 3(4): e166.
• 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 (2017). Prevalence of spinocerebellar ataxia 36 in a US population. Neurology Genetics. 3(4): e174.
• 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 (2017). Altered proliferation and networks in neural cells derived from idiopathic autistic individuals. Molecular Psychiatry. 22(6): 820-835.
• Cantor RM, Navarro L, Won H, Walker RL, Lowe JK, Geschwind DH (2017). ASD restricted and repetitive behaviors associated at 17q21.33: genes prioritized by expression in fetal brains. Molecular Psychiatry. Epub May 23, 2017.
• Lu AT, Hannon E, Levine ME, Crimmins EM, Lunnon K, Mill J, Geschwind DH, Horvath S (2017). Genetic architecture of epigenetic and neuronal ageing rates in human brain regions. Nature Communications. 8: 15353.
• Hinz FI, Geschwind DH (2017). Molecular Genetics of Neurodegenerative Dementias. Cold Spring Harbor Perspectives in Biology. 9(4).
• 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 (2017). A152T tau allele causes neurodegeneration that can be ameliorated in a zebrafish model by autophagy induction. Brain. 140(4): 1128-1146.
• Ercan E, Han JM, Di Nardo A, Winden K, Han MJ, Hoyo L, Saffari A, Leask A, Geschwind DH, Sahin M (2017). Neuronal CTGF/CCN2 negatively regulates myelination in a mouse model of tuberous sclerosis complex. Journal of Experimental Medicine. 214(3): 681-697.
• 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 (2017). A Multi-network Approach Identifies Protein-Specific Co-expression in Asymptomatic and Symptomatic Alzheimer's Disease. Cell Systems. 4(1): 60-72.e4.

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 (2016). Genome-wide changes in lncRNA, splicing, and regional gene expression patterns in autism. Nature. 540(7633): 423-427.
• 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 (2017). Network degeneration and dysfunction in presymptomatic C9ORF72 expansion carriers. Neuroimage: Clinical. 14:286-297.
• 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 (2016). Timing and significance of pathological features in C9orf72 expansion-associated frontotemporal dementia. Brain. 139(Pt 12): 3202-3216.
• Sun W, Poschmann J, Cruz-Herrera Del Rosario R, Parikshak NN, Hajan HS, Kumar V, Ramasamy R, Belgard TG, Elanggovan B, Wong CC, Mill J, Geschwind DH, Prabhakar S (2016). Histone Acetylome-wide Association Study of Autism Spectrum Disorder. Cell. 167(5): 1385-1397.e11.
• Sharon G, Sampson TR, Geschwind DH, Mazmanian SK (2016). The Central Nervous System and the Gut Microbiome. Cell. 167(4): 915-932.
• Wu YE, Parikshak NN, Belgard TG, Geschwind DH (2016). Genome-wide, integrative analysis implicates microRNA dysregulation in autism spectrum disorder. Nature Neuroscience. 19(11): 1463-1476.
• 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 (2016). Increased prevalence of autoimmune disease within C9 and FTD/MND cohorts: Completing the picture. Neurology: Neuroimmunology & Neuroinflammation. 3(6): e301.
• 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 (2016). Chromosome conformation elucidates regulatory relationships in developing human brain. Nature. 538(7626): 523-527.
• Gandal MJ, Leppa V, Won H, Parikshak NN, Geschwind DH (2016). The road to precision psychiatry: translating genetics into disease mechanisms. Nature Neuroscience. 19(11): 1397-1407.
• Silva SM, Cheng C, Mair W, Almeida S, Fong H, Biswas HU, Zhang Z, Huang Y, Temple S, Coppola, G, Geschwind DH, Karydas A, Miller BL, Kosik KS, Gao FB, Steen JA, & Haggerty SJ (2016). Human iPSC-derived neuronal model of tau-A152T frontotemporal dementia reveals tau-mediated mechanisms of neuronal vulnerability. Stem Cell Reports. Online access Sep 1, 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 (2016). Rare inherited and de novo CNVs reveal complex contributions to ASD risk in multiplex families. American Journal of Human Genetics. 99(3): 540-54.
• 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 (2016). Distinct Subtypes of Behavioral Variant Frontotemporal Dementia Based on Patterns of Network Degeneration. JAMA Neurology. 73(9): 1078-88.
• 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 (2016). Transcriptomic signatures of neuronal differentiation and their association with risk genes for autism spectrum and related neuropsychiatric disorders. Translational Psychiatry. 6(8): e864.
• Krystal JH, Abi-Dargham A, Barch DM, Bullmore ET, Carter CS, Geschwind DH, Harrison PJ, Nestler EJ, Stein MB (2016). Biological Psychiatry and Biological Psychiatry: Cognitive Neuroscience and Neuroimaging Adopt Neuroscience-Based Nomenclature. Biological Psychiatry. 80(1): 2-3.
• 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 DH, Dong Y, Shen L, Zhang B, Nestler EJ (2016). Circuit-wide transcriptional profiling reveals brain region-specific gene networks regulating depression susceptibility. Neuron. 90: 1-15.
• 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 (2016). Robust Axonal Regeneration Occurs in the Injured CAST/Ei Mouse CNS. Neuron. 90(3): 662.
• Gandal MJ, Geschwind DH (2016). The Genetics-Driven Revival in Neuropsychiatric Drug Development. Biological Psychiatry. 79(8): 628-30.
• de la Torre-Ubieta L, Won H, Stein JL, Geschwind DH (2016). Advancing the understanding of autism disease mechanisms through genetics. Nature Medicine. 22(4): 345-61.
• Ruzzo EK, Geschwind DH (2016). Schizophrenia genetics complements its mechanistic understanding. Nature Neuroscience. 19(4): 523-5.
• 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 (2016). Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders. Nature Neuroscience. 19(4): 571-7.
• Chandran V, Coppola G, Omura T, Nawabi H, Versano R, Costigan M, Huebner EA, Yekkirala A, Barrett L, Blesch A, Michaelevski I, Davis-Turak J, Gao F, Langfelder P, Horvath S, He Z, Fainzilber M, Tuszynski M, Woolf CJ, Geschwind DH (2016). A systems-level analysis of the peripheral nerve intrinsic axonal growth program. Neuron. 89(5): 956-70.
• Werling DM, Parikshak NN, Geschwind DH (2016). Gene expression in human brain implicates sexually dimorphic pathways in autism spectrum disorders. Nature Communications. 7: 10717.
• Jeste SS, Geschwind DH (2016). Clinical trials for neurodevelopmental disorders: At a therapeutic frontier. Science Translational Medicine. 8(321): 321fs1.
• Lee JA, Damianov A, Lin CH, Fontes M, Parikshak NN, Anderson ES, Geschwind DH, Black DL, Martin KC (2016). Cytoplasmic Rbfox1 regulates the expression of synaptic and autism-related genes. Neuron. 89(1): 113-28.
• Sha SJ, Khazenzon AM, Ghosh PM, Rankin KP, Pribadi M, Coppola G, Geschwind DH, Rabinovici GD, Miller BL, Lee SE (2016). Early-onset Alzheimer's disease versus frontotemporal dementia: resolution with genetic diagnoses?. Neurocase. 22(2): 161-7.

2015

• Oguro-Ando A, Rosensweig C, Herman E, Nishimura Y, Werling DM, Bill BR, Gao F, Coppola G, Abrahams BS, Geschwind DH (2015). Increased CYFIP1 dosage alters cellular and dendritic morphology and dysregulates mTOR. Molecular Psychiatry. 20(9): 1-10.
• 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 (2015). Rarity of the Alzheimer disease-protective APP A673T variant in the United States. JAMA Neurology. 72(2): 209-16.
• The Network and Pathway Analysis Subgroup of the Psychiatric Genomics Consortium (2015). Psychiatric genome-wide association study analyses implicate neuronal, immune and histone pathways. Nature Neuroscience. 18: 199-209.
• Penagarikano O, Lazaro MT, Lu XH, Gordon A, Dong H, Lam HA, Peles E, Maidment NT, Murphy NP, Yang XW, Golshani P, Geschwind DH (2015). Exogenous and evoked oxytocin restores social behavior in the Cntnap2 mouse model of autism. Science Translational Medicine. 7(271), 271ra8.
• Chen JA, Wang Q, Davis-Turak J, Li Y, Karydas A, Hsu S, Sears R, Chatzopoulou D, Huang A, Wojta K, Klein E, Lee J, Beekly D, Boxer A, Faber K, Haase C, Miller J, Poon W, Rosen A, Rosen H, Sapozhnikova A, Shapira J, Varpetian A, Foroud T, Levenson R, Levey A, Kukull W, Mendez M, Ringman J, Chui H, Cotman C, DeCarli C, Miller B, Geschwind D, Coppola G (2015). A multiancestral genome-wide exome array study of Alzheimer’s disease, frontotemporal dementia, and progressive supranuclear palsy. JAMA Neurology. 72(4):414-22.
• 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 (2015). 3D visualization of the regional differences. Molecular Psychiatry. 20(1): 1.
• Martinez RA, Stein JL, Krostag ARF, Nelson AM, Marken JS, Menon V, May RC, Yao Z, Kaykas A, Geschwind DH, Grimley JS (2015). Genome engineering of isogenic human ES cells to modelautism disorders. Nucleic Acids Research. 43(10):e65.
• Lowe JK, Werling DM, Constantino JN, Cantor RM, Geschwind DH (2015). Social responsiveness, an autism endophenotype: Genomewide significant linkage to two regions on chromosome 8. American Journal of Psychiatry. 172(3): 266-75.
• Raposo M, Bettencourt C, Maciel P, Gao F, Ramos A, Kazachkova N, Vasconcelos J, Kay T, Rodrigues AJ, Bettencourt B, Bruges-Armas J, Geschwind DH, Coppola G, Lima M (2015). Novel candidate blood-based transcriptional biomarkers of Machado-Joseph disease. Movement Disorders. 30(7):968-75.
• Winden K, Bragin A, Engel J, Geschwind DH (2015). Molecular alterations in areas generating fast ripples in an animal model of temporal lobe epilepsy. Neurobiology of Disease. 78: 35-44.
• Yu, H, Su Y, Shin J, Zhong C, Guo JU, Weng YL, Gao F, Geschwind DH, Coppola G, Ming GL, Song H (2015). Tet3 regulates synaptic transmission and homeostatic plasticity via DNA oxidation and repair. Nature Neuroscience. 18(6): 836-43.
• Gdalyahu A, Lazaro M, Penagarikano O, Golshani P, Trachtenberg JT, Gescwind DH (2015). The autism-related protein Contactin-Associated Protein-Like 2 (CNTNAP2) stabilizes new spines: An in vivo mouse study. Public Library of Science ONE. 10(5): e0125633. **Correction May 29, 2015 10(5): e0129638.
• Legati A, Giovannini D, Nicolas G, López-Sánchez U, Quintáns B, Oliveira J, Sears R, Ramos EM, Spiteri E, Sobrido MJ, Carracedo A, 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. (2015) Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export. Nature Genetics. 47(6): 579-581.
• 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 (2015). Spatiotemporal dynamics of the postnatal developing primate brain transcriptome. Human Molecular Genetics. 24(15): 4327-39.
• Jun G, Ibrahim-Verbaas CA, Vronskaya M, Lambert JC, ChungJ, Naj AC, Kunkle BW, Wang LS, Bis JC, Bellenguez C, Harold D, Lunetta KL, Destefano AL, Grenier-Boley B, Sims R, Beecham GW, Smith AV, Chouraki1 V, Hamilton-Nelson KL, Ikram MA, Fievet N, Denning N, Martin ER, Schmidt H, Kamatani Y, Dunstan ML, Valladares O, Ruiz Laza A, Zelenikax D, Ramirez A, Foroud TM, Choi SH, Boland A, Becker T, Kukull WA, van der Lee SJ, Pasquier F, Cruchaga C, Beekly D, Fitzpatrick AL, Hanon O, Gill M, Barber R, Gudnason V, Campion D, Love S, Bennett DA, Amin N, Berr C, Tsolaki M, Buxbaum JD, Lopez OL, Deramecourt V, Fox N, Cantwell LB, Tárraga L, Dufouil C, Hardy J, Crane PK, Eiriksdottir G, Hannequin D, Clarke R, Evans D, Mosley TH, Letenneur L, Brayne C, Maier W, De Jager P, Emilsson V, Dartigues JF, Hampel H, Kamboh MI, F.A.G. de Bruijn R, Tzourio C, Pastor P, Larson EB, Rotter JI, O’Donovan MC, Montine TJ, Nalls MA Mead S, Reiman EM, Jonsson PV, Holmes C, St. George-Hyslop PH, Boada M, Passmore P, Wendland JR, Schmidt R, Morgan K,. Winslow AR, Powell JF, Carasquillo M, Younkin SG, Jakobsdóttir J, Kauwe JSK, Wilhelmsen KC, Rujescu D, Nöthen MM, Hofman A, Jones L, International Genomics of Alzheimer’s Project Consortium members, Haines JL, Psaty PM, Van Broeckhoven C, Holmans P, Launer LJ, Mayeux R, Lathrop M, Goate AM, Escott-Price V, Seshadri S, Pericak-Vance MA, Amouyel P, Williams J, van Duijn CM, Schellenberg GD, Farrer LA (2015). A novel Alzheimer disease locus located near the gene encoding tau protein. Molecular Psychiatry. 21(1): 108-117.
• Werling DM, Geschwind DH (2015). Recurrence rates provide evidence for sex-differential, familial genetic liability for autism spectrum disorders in multiplex families and twins. Molecular Autism. 6: 27.
• 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 (2015). Robust axonal regeneration occurs in the Injured CAST/Ei mouse CNS. Neuron. 86(5): 1215-27.
• Pa?ca 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, Pa?ca SP (2015). Functional cortical neurons and astrocytes from human pluripotent stem cells in 3D culture. Nature Methods. 12(7):671-8.
• Nicolas G, Charbonnier C, Lemos RRd, Richard A-C, Guillin O, Wallon D, Legati A, Geschwind DH, Coppola G, Frebourg T, Campion D, Oliveira JRMd, Hannequin D, the collaborators from the French IBGC study group (2015). 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. 9999: 1-9.
• Burkett ZA, Day NF, Penagarikano O, Geschwind DH, White SA (2015). VoICE: A semi-automated pipeline for standardizing vocal analysis across models. Science Reports. 5:10237.
• Mesquita SD, Ferreira AC, Gao F, Coppola G. Geschwind DH, Sousa JC, Correia-Neves M, Sousa N, Palha JA, Marques F (2015). 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. Epub ahead of print June 16, 2015.
• Kloth AD, Badura A, Li A, Cherskov A, Connolly SG, Giovannucci A, Bangash MA, Grasselli, Peñagarikano O, Piochon C, Tsai PT, Geschwind DH, Hansel C, Sahin M, Takumi T, Worley PF, & Wang SH (2015). Cerebellar associative sensory learning defects in five mouse autism models. Elife. Epub July 9, 2015.
• Prusiner SB, Woerman AL, Watts JC, Rampersaud R, Berry DB, Patel S, Oehler A, Glidden DV, Grinberg LT, Giles K, Mordes DA, Lowe JK, Kravitz SN, Geschwind DH, Halliday G, Middleton LT & Gentleman SM (2015). Evidence for Alpha-Synuclein Prions Causing Multiple System Atrophy in Humans with Parkinsonism. Proceedings of the National Academy of Sciences USA. 112(38): E5308-E5317.
• The UK10K Consortium (2015). The UK10K project identifies rare variants in health and disease. Nature. 526(7571):82-90.
• Sanders SJ, Xin H, A. Willsey J, Ercan-Sencicek AG, Samocha KE, Ercument Cicek A, 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 ML (2015) Insights into autism spectrum disorder genomic architecture and biology from 71 risk loci. Neuron. 87(6): 1215-1233.
• Wei D, Lee DY, Cox CD, Karsten CA, Penagarikano O, Geschwind DH, Gall CM, Piomelli D (2015) Endocannabinoid signaling mediates oxytocin-driven social reward. Proceedings of the National Academy of Sciences USA. 112(45):14084-14089.
• Berg JM, Lee CH, 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 (2015) JAKMIP1, a novel regulator of neuronal translation, modulates synaptic function and autistic-like behaviors in mouse. Neuron. 88: 1-19.

2014

• Wright MC, Mi R, Connor E, Reed N, Vyas A, Alspalter M, Coppola G, Geschwind DH, Brushart TM, Hoke A (2014). Novel roles for osteopontin and clusterin in peripheral motor and sensory axon regeneration. Journal of Neuroscience. 34(5): 1689-1700.
• Werling DM, Lowe JK, Luo R, Cantor RM, Geschwind DH (2014). Replication of linkage at chromosome 20p13 and identification of suggestive sex-differential risk loci for autism spectrum disorder. Molecular Autism. 5(1): 13.
• Li Y, Chen JA, Sears RL, Gao F, Klein ED, Karydas A, Geschwind MD, Rosen HJ, Boxer AL, Guo W, Pelligrini M, Horvath S. Miller BL, Geschwind DH, Coppola G (2014). An epigenetic signature in peripheral blood associated with the haplotype on 17q21.31, a risk factor for neurodegenerative taupathy. PLoS Genetics. 10(3): e1004211.
• 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 (2014). Transcriptional landscape of the prenatal human brain. Nature. 508(7495): 199-206.
• 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 (2014). Recurrent duplications of the annexin A1 gene (ANXA1) in autism spectrum disorders. Molecular Autism. 5(1): 28.
• Pinto D, delaby E, Merico D, Barbosa M, Merikangas A, Kiel L, Thiruvahindrapuram B, Xu X, Ziman R, Wang Z, Vortsman JAS, Thompson A, Regan R, Pilorge M, Pellechia 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, Conceicao 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, Roge B, Roberts W, Poustka F, Mouga S, Minshew N, McInnes LA, McGrew SG, Lord C, Leboyer M, Le Couteur AS, Kolevzon A, Gozalez PJ, Jacob S, Holt R, Guter S, Green J, Green A, Gilberg C, Fernandez BA, Duque F, Bourgeron T, Bolton PF, Bolte 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 (2014). Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders. The American Journal of Human Genetics. 94: 1-18.
• 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 (2014). Mutation of senataxin alters disease-specific transcriptional networks in patients with ataxia with oculomotor apraxia type 2. Human Molecular Genetics. 5; 23(18): 4758-69.
• 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 (2014). Altered network connectivity in frontotemporal dementia with C9orf72 hexanucleotide repeat expansion. Brain. 137(Pt 11): 3047-60.
• 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 (2014). Clustering autism: using neuroanatomical differences in 26 mouse models to gain insight into the heterogeneity. Molecular Psychiatry. 20(1): 118-125.
• 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 (2014). Effects of multiple genetic Loci on age at onset in late-onset Alzheimer disease: a genome-wide association study. JAMA Neurology. 71(11): 1394-404.
• 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 (2014). Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia. JAMA Neurology. 71(10): 1237-46.
• Stein JL, de la Torre-Ubieta L, Tian Y, Parikshak NN, Hernandez IA, Marchetto MC, Baker DK, Lu D, Lowe JK, Wexler EM, Muotri AR, Gage FH, Kosik KS, Geschwind DH (2014). A quantitative framework to evaluate modeling of cortical development by neural stem cells. Neuron. 83(1): 68-86.
• Irimia M, Weatheritt RJ, Ellis JD, Parikshak NN, Gonatopoulos-Pournatzis T, Babor M, Quesnel-Vallieres M, Tapial J, Raj B, O’Hanlon D, Barrios-Rodlies M, Sternberg MD, Cordes SP, Roth FP, Wrana JL, Geschwind DH, Blencowe BJ (2014) A highly conserved program of neuronal microexons is misregulated in autistic brains. Cell. 159(7): 1511-23. 265.
• Tian Y, Voineagu I, Pa?ca SP, Won H, Chandran V, Horvath S, Dolmetsch RE, Geschwind DH (2014). Alteration in basal and depolarization induced transcriptional network in iPSC derived neurons from Timothy syndrome. Genome Medicine. 6(10): 75. 266.
• Allen M, Kachadoorian M, Quicksall Z, Zou F, Chai HS, Younkin C, Cook JE, Pankrantz VS, Carrasquillo MM, Krishnan S, Nguyen T, Ma L, Malphrus K, Lincoln S, Bisceglio G, Kolbert CP, Jen J, Mukherjee S, Kauwe JK, Crane PK, Haines JL, Mayeux R, Pericak-Vance MA, Farrer LA, Schellenberg GD, Alzheimer’s Disease Genetics Consortium, Parisi JE, Petersen RC, Graff-Radford NR, Dickson DW, Younkin SG, Ertekin-Taner N. (2014). Association of MAPT haplotypes with Alzheimer’s disease risk and MAPT brain gene expression levels. Alzheimer’s Research and Therapy. 6:39.

2013

• Yamada T, Yang Y, Huang J, Coppola G, Geschwind DH, Bonni A (2013). Sumoylated MEF2A coordinately eliminates orphan presynaptic sites and promotes maturation of presynaptic boutons. Journal of Neuroscience. 11: 4726-40.
• Ridge PG, Mukherjee S, Crane PK, Kauwe JS, Alzheimer’s Disease Genetics Consortium (2013). Alzheimer’s Disease: Analyzing the missing heritability. PLoS One. 8(11): e79771.
•  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, Dobrici? V, Fogel BL, García-Estevez D, Goldman J, Goudreau JL, Hopfer S, Jankovi? M, Jaumà S, Jen JC, Kirdlarp S, Klepper J, Kosti? V, Lang AE, Linglart A, Maisenbacher MK, Manyam BV, Mazzoni P, Miedzybrodzka Z, Mitarnun W, Mitchell PB, Mueller J, Novakovi? 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 (2013). Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification. Neurogenetics. 14(1): 11-22.
• Holton P, Ryten M, Nalls M, Trabzuni D, Weale ME, Hernandez D, Crehan H, Gibbs JR, Mayeux R, Haines JL, Farrer LA, Pericak-Vance MA, Schellenberg GD; Alzheimer’s Disease Genetics Consortium, Ramirez-Restrepo M, Engel A, Myers AJ, Corneveaux JJ, Huentelman MJ, Dillman A, Cookson MR, Reiman EM, Singleton A, Hardy J, Guerreiro R, Apostolova LG, Arnold SE, Baldwin CT, Barber R, Barmada MM, Beach TG, 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, Carrasquillo MM, Carroll SL, Chui HC, Clark DG, Cotman CW, Crane PK, Crocco EA, Cruchaga C, Cummings JL, De Jager PL, DeCarli C, DeKosky ST, Demirci FY, Diaz-Arrastia R, Dick M, Dickson DW, Duara R, Ellis WG, Ertekin-Taner N, Evans D, Faber KM, Fallon KB, Farlow MR, Ferris S, Foroud TM, Frosch MP, Galasko DR, Ganguli M, Gearing M, Geschwind DH, Ghetti B, Gilbert JR, Gilman S, Giordani B, Glass JD, Goate AM, Graff-Radford NR, Green RC, Growdon JH, Hakonarson H, Hamilton RL, Harrell LE, Head E, Honig LS, Hulette CM, Hyman BT, Jarvik GP, Jicha GA, Jin LW, Jun G, Kamboh MI, Karlawish J, Karydas A, Kauwe JS, Kaye JA, 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, Naj AC, Nowotny P, Parisi JE, Peskind E, Petersen RC, Poon WW, Potter H, Quinn JF, Raj A, Rajbhandary RA, Raskind M, Reisberg B, Reitz C, Ringman JM, Roberson ED, Rogaeva E, Rosenberg RN, Sano M, Saykin AJ, Schneider JA, Schneider LS, Seeley WW, Shelanski ML, Smith CD, Sonnen JA, Spina S, St George-Hyslop P, Stern RA, Tanzi RE, Trojanowski JQ, Troncoso JC, Tsuang DW, Valladares O, Van Deerlin VM, Vardarajan BN, Vinters HV, Vonsattel JP, Wang LS, Weintraub S, Welsh-Bohmer KA, Williamson J, Woltjer RL, Wright CB, Younkin SG (2013). Initial assessment of the pathogenic mechanisms of the recently identified Alzheimer risk loci. Annals of Human Genetics. 77 (2): 85-105.
• Dougherty JD, Maloney SE, Wozniak DF, Rieger MA, Sonnenblich LI, Coppola G, Mahieu NG, Zhang J, Cai J, Patti GJ, Abrahams BS, Geschwind DH, Heintz N (2013). The disruption of Celf6, a gene identified by translational profiling of serotonergic neurons, results in autism-related behaviors. Journal of Neuroscience. 33 (7): 2732-53.
• Lee SE, Tartaglia MC, Yener G, Genc S, Seeley WW, Sanchez-Juan P, Moreno F, Mendez MF, Klein E, Rademakers R, Lopez 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 (2013). Neurodegenerative disease phenotypes in carriers of MAPTA152T, a risk factor for Frontotemporal Dementia Spectrum Disorders and Alzheimer Disease. Alzheimer Disease Associated Disorders. 27(4): 302-9.
• Miller ZA, Rankin KP, Graff-Radford NR, Takada LR, Sturm VE, Cleveland CM, Criswell LA, Jaeger PA. Stan T, Heggell KA, Chan Hsu S, 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 (2013). TDP-43 frontotemporal lobar degeneration and autoimmune disease. Neurodegeneration. 84(9): 956-62.
• Perry DC, Lehmann M, Yokoyama JS, Karydas A, Lee JY, Coppola G, Grinberg LT, Geschwind DH, Seeley WW, Miller BL, Rosen H, Rabinovici G (2013). Progranulin mutations as risk factors for Alzheimer Disease. Archives of Neurology. 70(6): 774-8.
• 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, Dobri?i? V, Carracedo A, Petrovi? 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, Jankovi? M, Paucar M, Svenningsson P, Saliminejad K, Khorshid HR, Novakovi? I, Aguzzi A, Boss A, Le Ber I, Defer G, Hannequin D, Kosti? VS, Campion D, Geschwind DH, Coppola G, Betsholtz C, Klein C, Oliveira JR (2013). Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice. Nature Genetics. 45(9): 1077-82.
• 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, Werge T, Wienker TF, Wijsman EM, Willemsen G, Williams N, Willsey AJ, Witt SH, Xu W, Young AH, Yu TW, Zammit S, Zandi PP, Zhang P, Zitman FG, Zöllner S; International Inflammatory Bowel Disease Genetics Consortium (IIBDGC), Devlin B, Kelsoe JR, Sklar P, Daly MJ, O’Donovan MC, Craddock N, Sullivan PF, Smoller JW, Kendler KS, Wray NR (2013). Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs. Nature Genetics. 45(9): 984-94.
• Juknat A, Pietr M, Kozela E, Rimmerman N, Levy R, Gao FY, Coppola G, Geschwind DH, Vogel Z (2013). Microarray and pathway analysis reveal distinct mechanisms underlying cannabinoid-mediated modulation of LPS-induced activation of BV-2 microglial cells. PLoS ONE. 8(4): e61462.
• Miller JA, Woltjer RL, Goodenbour JM, Horvath S & Gechwind DH (2013). Genes and pathways underlying regional and cell type changes in Alzheimer’s disease. Genome Medicine. 5(5): 48.
• 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 Jr, Devlin B, Morrow EM (2013). Intellectual Disability is associated with increased runs of homozygosity in simplex autism. American Journal of Human Genetics. 93(1): 103-9.
• Carss KJ, Stevens E, Foley AR, Cirak S, Riemersma M, Torelli S, Hoischen A, Willer T, van Scherpenzeel M, Moore SA, Messina S, Bertini E, Bönnemann CG, Abdenur JE, Grosmann CM, Kesari A, Punetha J, Quinlivan R, Waddell LB, Young HK, Wraige E, Yau S, Brodd L, Feng L, Sewry C, MacArthur DG, North KN, Hoffman E, Stemple DL, Hurles ME, van Bokhoven H, Campbell KP, Lefeber DJ; UK10K Consortium, Lin YY, Muntoni F (2013). Mutations in GDP-mannose pyrophosphorylase B can cause gongeintal and limb-girdle muscular dystrophies associated with hypoglycosylation of a-dystroglycan. American Journal of Human Genetics. 93(1): 29-41.
• Lunnon K, Sattlecker M, Furney SJ, Coppola G, Simmons A, Proitsi P, Lupton MK, Lourdusamy A, Johnston C, Soininen H, K?oszewska I, Mecocci P, Tsolaki M, Vellas B, Geschwind DH, Lovestone S, Dobson R, Hodges A; dNeuroMed Consortium (2013). A blood gene expression marker of early Alzheimer’s disease. Journal of Alzheimer’s Disease. 33(3): 737-53.
• Chaste P, Klei L, Sanders SJ, Murtha MT, Hus V, Lowe JK, Willsey AJ, Moreno-De-Luca D, Yu TW, Fombonne E, Geschwind DH, 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 Jr, Kim SJ (2013). Adjusting head circumference for covariates in autism: Clinical correlates of a highly heritable continuous trait. Biological Psychiatry. 74(8): 576-84.
• Reitz C, Jun G, Naj A, Rajbhandary R, Vardarajan BN, Wang LS, Valladares O, Lin CF, Larson EB, Graff-Radford NR, Evans D, De Jager PL, Crane PK, Buxbaum JD, Murrell JR, Raj T, Ertekin-Taner N, Logue M, Baldwin CT, Green RC, Barnes LL, Cantwell LB, Fallin MD, Go RC, Griffith P, Obisesan TO, Manly JJ, Lunetta KL, Kamboh MI, Lopez OL, Bennett DA, Hendrie H, Hall KS, Goate AM, Byrd GS, Kukull WA, Foroud TM, Haines JL, Farrer LA, Pericak-Vance MA, Schellenberg GD, Mayeux R; Alzheimer Disease Genetics Consortium (2013). Variants in the ATP-binding cassette transporter (ABCA7), apolipoportein E e4, and the risk of late-onset Alzheimer disease in African Americans. JAMA. 309(14): 1483-92.
• Miyashita A, Koike A, Jun G, Wang LS, Takahashi S, Matsubara E, Kawarabayashi T, Shoji M, Tomita N, Arai H, Asada T, Harigaya Y, Ikeda M, Amari M, Hanyu H, Higuchi S, Ikeuchi T, Nishizawa M, Suga M, Kawase Y, Akatsu H, Kosaka K, Yamamoto T, Imagawa M, Hamaguchi T, Yamada M, Moriaha T, Takeda M, Takao T, Nakata K, Fujisawa Y, Sasaki K, Watanabe K, Nakashima K, Urakami K, Ooya T, Takahashi M, Yuzuriha T, Serikawa K, Yoshimoto S, Nakagawa R, Kim JW, Ki CS, Won HH, Na DL, Seo SW, Mook-Jung I; Alzheimer Disease Genetics Consortium, St George-Hyslop P, Mayeux R, Haines JL, Pericak-Vance MA, Yoshida M, Nishida N, Tokunaga K, Yamamoto K, Tsuji S, Kanazawa I, Ihara Y, Schellenberg GD, Farrer LA, Kuwano R (2013). SORL1 is genetically associated with late-onset Alzheimer’s disease in Japanese, Koreans, and Caucasians. PLoS One. 8(4): e58618.
• Reitz C, Mayeux R, Albert MS, Albin RL, Apostolova LG, Arnold SE, Baldwin CT, Barber R, Barmada MM, Barnes LL, Beach TG, Beecham GW, Beekly D, Bennett DA, Bigio EH, Bird TD, Blacker D, Boeve BF, Bowen JD, Boxer A, Burke JR, Buxbaum JD, Byrd GS, Cai G, Cairns NJ, Cantwell LB, Cao C, Carlson CS, Carney RM, Carroll SL, Chui HC, Clark DG, Crane PK, Cribbs DH, Crocco EA, Cruchaga C, DeCarli C, DeKosky ST, Demirci F, Dick M, Ertekin-Taner N, Evans D, Faber KM, Fallin D, Fallon KB, Farrer LA, Farlow MR, Ferris S, Frosch MP, Foroud TM, Galasko DR, Ganguli M, Gearing M, Geschwind DH, Ghetti B, Gilbert JR, Gilman S, Glass JD, Go RC, Goate AM, Graff-Radford NR, Green RC, Griffith P, Growdon JH, Haines JL, Hakonarson H, Hall K, Hamilton RL, Hamilton-Nelson KL, Haroutunian V, Harrell LE, Head E, Hendrie H, Honig LS, Hulette CM, Hyman BT, De Jager PL, Jarvik GP, Jicha GA, Jin LW, Jun G, Kamboh M, Karydas A, Kauwe JS, Kaye JA, Kim R, Koo EH, Kowall NW, Kramer JH, Kramer P, Kukull WA, LaFerla FM, Lah JJ, Lang-Walker R, Larson EB, Leverenz JB, Levey AI, Li G, Lieberman AP, Lin CF, Logue M, Lopez OL, Lunetta KL, Lyketsos CG, Mack WJ, Manly JJ, 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, Murrell JR, Naj A, Obisesan TO, Olichney JM, Parisi JE, Pericak-Vance MA, Peskind E, Petersen RC, Pierce A, Poon WW, Potter H, Quinn JF, Raj A, Raj T, Rajbhandary R, Raskind M, Reiman EM, Reisberg B, Ringman JM, Roberson ED, Rosen HJ, Rosenberg RN, Sano M, Saykin AJ, Schellenberg GD, Schneider JA, Schneider LS, Seeley WW, Smith AG, Sonnen JA, Spina S, Stern RA, Tanzi RE, Trojanowski JQ, Troncoso JC, Tsuang DW, Van Deerlin VM, Van Eldik LJ, Vardarajan BN, Vinters HV, Vonsattel JP, Valladares O, Wang LS, Weintraub S, Welsh-Bohmer KA, Williamson J, Woltjer RL, Wright CB, Younkin SG, Yu CE, Yu L (2013). TREM2 and neurodegenerative disease. New England Journal of Medicine. 369(16): 1564-5.
• Van Blitterswijk M, Baker MC, Dejesus-Hernandez M, Ghidoni R, Benussi L, Finger E, Hsiung GY, Kelley BJ, Murray MJ, 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 III 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 (2013). C9ORF72 repeat expansions in cases with previously identified pathogenic mutations. Neurology. 81(15): 1332-41.
• Parikshak NN, Luo, R, Zhang A, Won H, Lowe JK, Chandran V, Horvath SH, Geschwind DH (2013). Integrative functional genomic analyses implicate specific molecular pathways and circuits in autism. Cell. 155(5): 1008-21.

2012

• Braskie MN, Medina LD, Rodriguez-Agudelo Y, Geschwind DH, Macias-Islas MA, Cummings JL, Bookheimer SY, Ringman JM (2012). Increased fMRI signal with age in familial Alzheimer’s disease mutation carriers. Neurobiology of Aging. 33(2): 424e11-21.
• Fogel BL, Lee JY, Lane J, Wahnich A, Chan S, Huang A, Osborn GE, Klein E, Mamah C, Perlman S, Geschwind DH, Coppola G (2012). Mutations in rare ataxia genes are uncommon causes of sporadic cerebellar ataxia. Movement Disorders. 27(3): 442-6.
• Ringman JM, Schulman H, Becker C, Jones T, Bai Y, Immermann F, Cole G, Sokolow S, Gylys K, Geschwind DH, Cummings JL, Wan HI (2012). Proteomic changes in cerebrospinal fluid of presymptomatic and affected persons carrying familial Alzheimer disease mutations. Archives of Neurology. 69(1): 96-104.
• Khan BK, Yokoyama JS, Takada LT, Sha SJ, Rutherford NJ, Fong JC, Karvdas AM, Wu T, Ketelle RS,  Baker MC, Hernandez MD, Coppola G, Geschwind DH, Rademakers R, Lee SE, Rosen HJ, Ravinovici GD, Seeley WW, Rankin KP,  Boxer AL, Miller BL (2012).  Atypical, slowly progressive behavioural variant frontotemporal dementia associated with variant frontotemporal dementia associated with C90RF72 hexanucleotide expansion. Journal of Neurology, Neurosurgery and Psychiatry. 83(4): 358-64.
• Konopka G, Wexler E, Rosen E, Mukamel Z, Osborn GE, Chen L, Lu D, Gao F, Gao K, Lowe JK, Geschwind DH (2012). Modeling the functional genomics of autism using human neurons. Molecular Psychiatry. 17(2): 202-14.
• Ehninger D, Sano Y, de Vries PJ, Dies K, Franz D, Geschwind DH, Kaur M, Lee YS, Li W, Lowe K, Nakagawa JA, Sahin M, Smith K, Whittemore V, Silva AJ (2012). Gestational immune activation and Tsc2 haploinsufficiency cooperate to disrupt fetal survival and may perturb social behavior in adult mice. Molecular Psychiatry. 17(1): 62-70.
• Juknat A, Pietr M, Kozela E, Rimmerman N, Levy R, Coppola G, Geschwind DH, Vogel Z (2012). Differential transcriptional profiles mediated by exposure to the cannabinoids cannabidiol and Δ9-tetrahydrocannabinol in BV-2 microglial cells. British Journal of Pharmacology. 165: 2512-28.
• Bernard A, Lubbers LS, Tanis KQ, Luo R, Podtelezhnikov AA, Finney EM, McWhorter M M.E., Serikawa K, Lemon T, Morgan R, Copeland C, Smith K, Cullen V, Davis-Turak J, Lee C-H, Sunkin S, Loboda AP, Levine DM, Stone DJ, Hawrylycz M, Roberts CJ, Jones AR, Geschwind DH, Lein E (2012). Transcriptional architecture of the primate neocortex. Neuron. 73(6): 1083-1099.
• Constantino JN, Todorov A, Hilton C, Law P, Zhang Y, Molloy E, Fitzgerald R, Geschwind DH (2012). Autism recurrence in half siblings: Strong support for genetic mechanisms of transmission in ASD. Molecular Psychiatry. (18)2: 137-8.
• Lunnon K, Ibrahim Z, Protisi P, Lourdusamy A, Newhouse S, Sattlecker M, Furney S, Saleen M, Soininen H, Kloszewska I, Mecocci P, Tsolaki M, Vellas B. Coppola G, Geschwind DH, Simmons A, Lovestone S, Dobson R, Hodges A (2012). Mitochondrial dysfunction and immune activation are detectable in early Alzheimer’s disease blood. Journal of Alzheimer’s Disease. 30(3): 685-710.
• 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 Jr, Goin-Kochel RP, Vaz FM, Beaudet AL (2012). A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism. Proceedings of the National Academy of Sciences USA. 109(21): 7974-81.
• Coppola G, Chinnathambi S, Jiyong Lee J, 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 (2012). 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. 15: 3500-12.
• Blesch A, Lu P, Tsukada S, Taylor Alto L, Roet K, Coppola G, Geschwind DH, Tuszynski MH (2012). Conditioning lesions before or after spinal cord injury recruit broad genetic mechanisms that sustain axonal regeneration: Superiority to cAMP-mediated effects. Experimental Neurology. 235 (1): 162-73.
• 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* (2012). De novo mutations revealed by whole-exome sequencing are strongly associated with autism. Nature. 485(7397): 237-41. (*senior authors, co-supervised this study).
• Perry RBT, 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 (2012). Subcellular knockout of importin B1 perturbs axonal retrograde signaling. Cell. 75(2): 294-305.
• Marques F, Mesquita SD, Sousa JC, Coppola G, Gao F, Geschwind DH, Columba-Cabeza S, Aloisi F, Degn M, Cerqueira JJ, Sousa N, Correia-Neves M, Palha JA (2012). Lipocalin 2 is present in the EAE brain and is modulated by natalizumab. Frontiers in Cellular Neuroscience. 6:33.
• 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 J, 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 Jr, 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 (2012). Individual common variants exert weak effects on the risk for autism spectrum disorders. Human Molecular Genetics. 21(21): 4781-92.
• Braskie MN, Medina LD, Rodriguez-Agudelo Y, Geschwind DH, Macias-Islas MA, Thompson PM, Cummings JL, Bookheimer SY, Ringman JM (2012). Memory performance and fMRI signal in presymptomatic familial Alzheimer’s disease. Human Brain Mapping. 34(12): 3308-19.
• Shirasaki DI, Greiner ER, Al-Ramahi I, Gray M, Boontheung P, Geschwind DH, Botas J, Coppola G, Horvath S, Loo JA, Yang XW (2012). Network organization of the huntingtin proteomic interactome in Mammalian brain. Neuron. 75(1): 41-57.
• Fogel BL, Wexler E, Wahnich A, Friedrich T, Vijayendran C, Gao F, Parikshak N, Konopka G, Geschwind DH (2012). RBFOX1 regulates both splicing and transcriptional networks in human neuronal development. Human Molecular Genetics. 21(19): 4171-86.
• Zou F, Chai HS, Younkin CS, Allen M, 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, Kouri N, Kolbert CP, Jen J, Haines JL, Mayeux R, Pericak-Vance MA, Farrer LA, Schellenberg GD; Alzheimer’s Disease Genetics Consortium, Petersen RC, Graff-Radford NR, Dickson DW, Younkin SG, Ertekin-Taner N (2012). Brain expression genome-wide association study (eGWAS) identifies human disease-associated variants. PLoS Genetics. 8(6): e1002707.
• 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 (2012). Genome-wide transcriptome profiling reveals the functional impact of rare de novo and recurrent CNVs in Autism Spectrum Disorder. American Journal of Human Genetics. 91(1): 38-55.
• Ringman JM, Elashoff D, Geschwind DH, Welsh BT, Gylys KH, Lee C, Cummings JL, Cole GM (2012). Plasma signaling proteins in persons at genetic risk for Alzheimer disease: influence of APOE genotype. Archives of Neurology. 69(6): 757-64.
• Sha SJ, Takada LT, Rankin KP, Yokoyama JS, Rutherford NJ, Fong JC, Khan B, Karydas AM, Baker MT, DeJesus-Hernandez M, Pribadi M, Coppola G, Geschwind DH, Rademakers R, Lee S, Seeley WW, Miller BL, Boxer AL (2012). Frontotemporal dementia due to C90RF72 mutations: Clinical and imaging features. Neurology. 79(10): 1002-11.Russell JF, Steckley JL, Coppola G, Hahn AFG, 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, and Ptacek LJ (2012). Familial cortical myoclonus with a mutation in NOL3. Annals of Neurology. 72: 175-83.
• Zeng J, Konopka G, Hunt BG, Preuss TM, Geschwind DH, Yi SV (2012). Divergent whole-genome methylation maps of human and chimpanzee brains reveal epigenetic basis of human regulatory evolution. American Journal of Human Genetics. 91(3): 455-65.
• Konopka G, Friedrich T, Davis-Turak J, Winden K, Oldham MC, Gao F, Chen L, Wang GZ, Luo R, Preuss TM, Geschwind DH (2012). Human-specific transcriptional networks in the brain. Neuron. 75(4): 601-17.
• 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, Chong J, Dalley RA, Daly BD, Dang C, Datta S, Dee N, Dolbeare Ta, Farber 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 (2012). An anatomically comprehensive atlas of the adult human brain transcriptome. Nature. 489(7416): 391-9.
• Moreno-De-Luca D, Sanders SJ, Willsey AJ, Mulle JG, Lowe JK, Geschwind DH, State MW, Martin CL, Ledbetter DH (2012). Using large clinical data sets to infer pathogenicity for rare copy variants in autism cohorts. Molecular Psychiatry. 18(10): 1090-5.
• 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 (2012). Induced pluripotent stem cell models of progranulin-deficient Frontotemporal Dementia uncover specific reversible neuronal defects. Cell Reports. 2, 1-10.
• Hamby ME, Coppola G, Ao Y, Geschwind DH, Khakh BS, Sofroniew MV (2012). Inflammatory mediators alter the astrocyte transcriptome and calcium signaling elicited by multiple G-protein-coupled receptors. Neurobiology of Disease. 32(42): 14489-510.
• Klei L, Sanders SJ, Murtha MT, Hus V, Lowe JK, Willsey AJ, Moreno-De-Luca D, Yu TW, Fombonne E, Geschwind DH, Grice DE, Ledbetter DH, Lord C, Mane SM, Lese Martin C, Martin DM, Morrow EM, Walsh CA, Melhem NM, Chaste P, Sutcliffe JS, State MW, Cook Jr EH, Roeder K, Devlin B (2012). Common genetic variants, acting additively, area a major source of risk for autism. Molecular Autism. 3: 9.

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, Graff-Radford N, Geschwind DH, Rademakers R (2011). TMEM106B regulates progranulin levels and the penetrance of FTLD in GRN mutation carriers. Neurology. 76(5): 467-74.
• Thomas EA, Coppola G, Tang B, Kuhn A, Ho Kim S, Geschwind DH, Brown TB, Luthi-Carter R, Ehrlich ME (2011). In vivo cell-autonomous transcriptional abnormalities revealed in mice expressing mutant huntingtin in striatal but not cortical neurons. Human Molecular Genetics. 20(6): 1049-60.
• Newbern JM, Li X, Shoemaker SE, Zhou J, Zhong J, Wu Y, Bonder D, Hollenback S, Coppola G, Geschwind DH, Landreth GE, Snider WD (2011). Specific functions for ERK/MAPK signaling during PNS development. Neuron. 69(1): 91-105.
• Marques F, Sousa JC, Coppola G, Gao FY, Puga R, Brentani H, Geschwind DH, Sousa N, Correia-Neves M, Palha JA (2011). Transcriptome signature of the adult mouse choroid plexus. Fluids and Barriers of the CNS. 8(1): 10.
• Ringman JM, Medina LD, Braskie M, Rodriguez-Agudelo Y, Geschwind DH, Macias-Islas MA, Cummings JL, Bookheimer S (2011). Effects of risk genes on BOLD activation in presymptomatic carriers of familial Alzheimer’s disease mutations during a novelty-encoding task. Cerebral Cortex. 21(4): 877-83.
• Iwamoto K, Bundo M, Ueda J, Oldham MC, Ukai W, Hashimoto E, Saito T, Geschwind DH, Kato T (2011). Neurons show distinctive DNA methylation profile and higher interindividual variations compared to non-neurons. Genome Research. 21(5): 688-96.
• Becker EB, Fogel BL, Rajakulendran S, Dulneva A, Hanna MG, Perlman SL, Geschwind DH, Davies KE (2011). Candidate screening of the TRPC3 gene in cerebellar ataxia. Cerebellum. 10(2): 296-9.
• Tang B, Seredennina T, Coppola G, Kuhn A, Geschwind DH, Luthi-Carter R, Thomas EA (2011). 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. 42(3): 459-67.
• 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 (2011). Suberoylanilide hydroxamic acid (vorinostat) upregulates progranulin transcription: Rational therapeutic approach to frontotemporal dementia. Journal of Biological Chemistry. 286(18): 16101-8.
• 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, George-Hyslop PS, 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 (2011). Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer’s disease. Nature Genetics. 43(5): 436-41.
• Zai L, Ferrari C, Subbaiah S, Irwin N, Havton LA, Strittmatter S, Coppola G, Geschwind DH, Benowitz LI (2011). Inosine augments the effects of a Nogo receptor blocker and of environmental enrichment to restore skilled forelimb use after stroke. Journal of Neuroscience. 31(16): 5977-88.
• 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 Jr, Geschwind D, Roeder K, Devlin B, State MW (2011). Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. 70(5): 863-85.
• Sleiman S, Langley B, Basso M, Berlin J, Xia L, Payappilly JB, Kharel MK, Guo H, Marsh JL, Michels Thompson L, Mahishi L, Ahuja P, MacLellan WR, Geschwind DH, Coppola G, Rohr J, Ratan RR (2011). Mithramycin is a gene selective Sp1 inhibitor that identifies a biological intersection between cancer and neurodegeneration. Journal of Neuroscience. 31(18): 6858-70.
• Voineagu I, Wang X, Johnston, P, Lowe J, Tian, Y, Horvath S, Mill J, Cantor R, Blencowe BJ, Geschwind DH (2011). Transcriptomic analysis of autistic brain reveals convergent molecular pathology. 474(7351): 380-4. (*Highlighted in Nature Review Neuroscience. Whalley, K. 12(7): 372. **Autims Speaks: Top Ten Science, Autism Research Achievements of 2011.)
• Winden KD, Karsten S, Bragin A, Kudo LC, Gehman LT, Ruidera J, Geschwind DH, Engel J (2011). A systems level, functional genomics analysis of chronic epilepsy. PLoS One. 6(6): e20763.
• Dolmetsch R, Geschwind DH (2011). The Human Brain in a Dish: The Promise of iPSC-Derived Neurons. Cell. 145(6): 831-4.
• Anney RJ, Kenny EM, O’Dushlaine C, Yaspan BL, Parkhomenka E; The Autism Genome Project, Buxbaum JD, Sutcliffe J, Gill M, Gallagher L; The AGP Members, Bailey AJ, Fernandez BA, Szatmari P, Scherer SW, Patterson A, Marshall CR, Pinto D, Vincent JB, Fombonne E, Betancur C, Delorme R, Leboyer M, Bourgeron T, Mantoulan C, Roge B, Tauber M, Freitag CM, Poustka F, Duketis E, Klauck SM, Poustka A, Papanikolaou K, Tsiantis J, Gallagher L, Gill M, Anney R, Bolshakova N, Brennan S, Hughes G, McGrath J, Merikangas A, Ennis S, Green A, Casey JP, Conroy JM, Regan R, Shah N, Maestrini E, Bacchelli E, Minopoli F, Stoppioni V, Battaglia A, Igliozzi R, Parrini B, Tancredi R, Oliveira G, Almeida J, Duque F, Vicente A, Correia C, Magalhaes TR, Gillberg C, Nygren G, Jonge MD, Van Engeland H, Vorstman JA, Wittemeyer K, Baird G, Bolton PF, Rutter ML, Green J, Lamb JA, Pickles A, Parr JR, Couteur AL, Berney T, McConachie H, Wallace S, Coutanche M, Foley S, White K, Monaco AP, Holt R, Farrar P, Pagnamenta AT, Mirza GK, Ragoussis J, Sousa I, Sykes N, Wing K, Hallmayer J, Cantor RM, Nelson SF, Geschwind DH, Abrahams BS, Volkmar F, Pericak-Vance MA, Cuccaro ML, Gilbert J, Cook EH, Guter SJ, Jacob S, Nurnberger Jr JI, McDougle CJ, Posey DJ, Lord C, Corsello C, Hus V, Buxbaum JD, Kolevzon A, Soorya L, Parkhomenko E, Leventhal BL, Dawson G, Vieland VJ, Hakonarson H, Glessner JT, Kim C, Wang K, Schellenberg GD, Devlin B, Klei L, Minshew N, Sutcliffe JS, Haines JL, Lund SC, Thomson S, Yaspan BL, Coon H, Miller J, McMahon WM, Munson J, Estes A, Wijsman EM (2011). Gene-ontology enrichment analysis in two independent family-based samples highlights biologically plausible processes for autism spectrum disorders. European Journal of Human Genetics. 19(10): 1082-9.
• Mukamel Z, Konopka G, Wexler E, Dong H, Osborn G, Levitt P, Geschwind DH (2011). Regulation of MET by FOXP2, genes implicated in higher cognitive dysfunction and autism risk. Journal of Neuroscience. 31(32): 11437-1142.
• Miller JA, Cai C, Langfelder P, Geschwind DH, Kurian SM, Salomon DR, Horvath S (2011). Strategies for aggregating gene expression data: The collapseRows R function. BMC Bioinformatics. 12: 322.
• 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 (2011). Foxp2 regulates gene networks implicated in neurite outgrowth in the developing brain. PLoS Genetics. 7(7): e1002145.
• Rosen E, Wexler EM, Versano R, Coppola G, Gao F, Winden K, Oldham M, Martens LH, Zhou P, Farese RV, Geschwind DH (2011). Functional genomic analyses indentify pathways dysregulated by progranulin deficiency implicating Wnt signaling. Neuron. 71(6): 1030-1042.
• Peñagarikano O, Abrahams BS, Herman E, Dong H, Almajano J, Bragin A, Peles E, Geschwind DH (2011). Absence of CNTNAP2 leads to epilepsy, neuronal migration abnormalities, and core autism-related deficits. Cell. 147 (1): 235-46. (*Selected research highlight in Disease Models and Mechanisms. * Autims Speaks: Top Ten Science, Autism Research Achievements of 2011.)
• Ma CH, Omura T, Cobos E, Latremoliere A, Ghasemlou N, Brenner G, van Veen E, Barrett L, Sawada T, Gao F, Coppola G, Gertler F, Costigan M, Geschwind DH, Woolf C (2011). Accelerating axonal growth promotes motor recovery after peripheral nerve injury in mice. The Journal of Clinical Investigation. 121(11): 4332-47.
• Wexler EM, Rosen E, Lu D, Osborn GE, Martin E, Raybould H, Geschwind DH (2011). Genome-wide analysis of a Wnt1-regulated transcriptional network implicates neurodegenerative pathways. Science Signaling. 4(193): ra65.
• 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 Jr, 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 (2011). A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder. Human Genetics. 131(4): 565-79.
• 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 (2011). Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. Neuron. 72(2): 245-56.
• Apostolova LG, Hwang KS, Medina LD, Green AE, Braskie MN, Dutton RA, Lai J, Geschwind DH, Cummings JL, Thompson PM, Ringman JM (2011). Cortical and hippocampal atrophy in patients with autosomal dominant familial Alzheimer’s disease. Dementia and Geriatric Cognitive Disorders. 32(2): 118-25.
• Coppola G, Burnett R, Perlman S, Versano R, Gao F, Plasterer H, Rai M, Sacca F, Fila A, Lynch D, Rusche J, Gottesfeld J, Pandolfo M, Geschwind DH (2011). A gene expression phenotype in lymphocytes from Friedreich ataxia patients. Annals of Neurology. 70(5): 790-804.
• Pa?ca SP, Portmann T, Voineagu I, Yazawa M, Shcheglovitov A, Pa?ca AM, Cord B, Palmer TD, Chikahisa S, Nishino S, Bernstein JA, Hallmayer J, Geschwind DH, Dolmetsch RE (2011). Using iPSC-derived neurons to uncover cellular phenotypes associated with Timothy syndrome. Nature Medicine. 17(12): 1657-62.
• Medina LD, Rodriguez-Agudelo Y, Geschwind DH, Gilbert PE, Liang LJ, Cummings JL, Ringman JM (2011). Propositional density and apolipoprotein E genotype among persons at risk for familial Alzheimer’s disease. Dementia and Geriatric Cognitive Disorders. 32(3): 188-92.
• Lu AT, Yoon J, Geschwind DH, Cantor RM (2011). QTL replication and targeted association highlight the nerve growth factor gene for nonverbal communication deficits in autism spectrum disorders. Molecular Psychiatry. (18)2: 226-35.

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 (2010). Prevalent iron metabolism gene variants associated with increased brain ferritin iron in health older men. Journal of Alzheimer’s Disease. 20(1): 333-41.
• Shoemaker LD, Orozco NM, Geschwind DH, Whitelegge JP, Faull KF, Kornblum HI (2010). Identification of differentially expressed proteins in murine embryonic and postnatal cortical neural progenitors. PLoS One. 5(2): e9121.
• Sarafian TA, Montes C, Imura T, Qi J, Coppola G, Geschwind DH, Sofroniew MV (2010). Disruption of asytrocyte STAT3 signaling decreases mitochondrial function and increases oxidative stress in vitro. PLoS One. 5(3): e9532.
• Hilton CL, Fitzgerald RT, Jackson KM, Maxim RA, Bosworth CC, Shattuck PT, Geschwind DH, Constantino JN (2010). Brief report: Under-representation of African Americans in autism genetic research: A rationale for inclusion of subjects representing diverse family structures. Journal of Autism Developmental Disorders. 40(5): 633-9.
• Panaitof SC, Abrahams BS, Dong H, Geschwind DH, White SA (2010). Language-related Cntnap2 gene is differentially expressed in sexually dimorphic song nuclei essential for vocal learning in songbirds. The Journal of Comparative Neurology. 518(11): 1995-2018.
• Miller JA, Horvath S, Geschwind DH (2010). Divergence of human and mouse brain transcriptome highlights Alzheimer disease pathways. Proceedings of the National Academy of Sciences USA. 107(28): 12698-703.
• 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 (2010). Signaling to transcription networks in the neuronal retrograde injury response. Science Signaling. 13; 3(130): ra53.
• 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 Jr JI, Paterson AD, Pericak-Vance MA, Schellenberg GD, Szatmari P, Vicente AM, Vieland VJ, Wijsman EM, Scherer SW, Sutcliffe JS, Betancur C. (2010). Functional impact of global rare copy number variation in autism spectrum disorders. Nature. 466(7304): 368-72. (*One of the leading contributors in design, analysis and writing of this study and one the 34 lead AGP investigators who contributed equally to this project.)
• 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 (2010). Inhibition of transglutaminase 2 mitigates transcriptional dysregulation in models of Huntington disease. EMBO Mol Med. 2(9): 349-70.
• Costigan M, Belfer I, Griffin RS, Dai F, Barrett LB, Coppola G, Wu T, Kiselycznyk, Poddar, Lu Y, Diatchenko L, Smith S, Cobos EJ, Zaykin D, Allchorne A, Shen PH, Nikolajsen L, Karppinen J, Mannikko M, Kelempisioti A, Goldman D, Maixner W, Geschwind DH, Max MB, Seltzer Z, Woolf CJ (2010). Multiple chronic pain states are associated with a common amino acid-changing allele in KCNS1. Brain. 133(9): 2519-27.
• Strom SP, Stone JL, Ten Bosch JR, Merriman B, Cantor RM, Geschwind DH, Nelson SF (2010). High-density SNP association study of the 17q21 chromosomal region linked to autism identifies CACNA1G as a novel candidate gene. Molecular Psychiatry. 15(10): 996-1005.
• Mumford JA, Horvath S, Oldham MC, Langfelder P, Geschwind DH, Poldrack RA (2010). Detecting network modules in fMRI time series: A weighted network analysis approach. Neuroimage. 52(4): 1465-76.
• 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 Jr, 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 (2010). A genome-wide scan for common alleles affecting risk for autism. Human Molecular Genetics. 19(20): 4072-82.
• Lajonchere CM, Brown WT, Bucan M, Cantor R, Constantino J, Geschwind DH, Gilliam TC, Herbert M, Ledbetter DH, Miller J, Nelson SF, Samango-Sprouse C, Schellenberg GD, Shestack J, Spence S, State M, Tanzi RE, Deutsch C, Hallmeyer J (2010). Changing the landscape of autism research: The Autism Genetic Resource Exchange. Neuron. 68(2): 187-91.
• Wang S, Chandler-Militello D, Lu G, Roy N, Auvergne R, Zielke A, Stanwood N, Geschwind DH, Coppola G, Nicolis S, Sim F, Goldman S (2010). Prospective identification, isolation, and profiling of a telomerase expressing subpopulation of human neural stem cells, using sox2 enhancer-directed FACS. Journal of Neuroscience. 30(44): 14635-48.
• Scott-Van Zeeland AA, Abrahams BS, Alvarez-Retuerto AI, Sonnenblick LI, Rudie JD, Ghahremani D, Mumford J, Poldrack RA, Dapretto M, Geschwind DH*, Bookheimer SY* (2010). Altered functional connectivity in frontal lobe circuits is associated with variation in the autism risk gene CNTNAP2. Science Translational Medicine. 2(56): 56ra80. (*Senior authors, co-supervised this study.)
• 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 (2010). Gestational immune activation and Tsc2 haploinsufficiency cooperate to disrupt fetal survival and may perturb social behavior in adult mice. Molecular Psychiatry. 17(1):62-70.
• Lu PH, Thompson PM, Leow A, Lee GJ, Yanovsky I, Parikshak N, Khoo T, Wu S, Geschwind DH, Bartzokis G (2010). 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. 23(3): 433-42.
• Li S, Overman JJ, Katsman D, Donnelly CJ, Twiss JL, Giger RJ, Coppola G, Geschwind DH, Carmichael ST (2010). An age-related sprouting transcriptome provides molecular control of axonal sprouting after stroke. Nature Neuroscience. 13(12): 1496-504.
• Jun G, Naj AC, Beecham GW, Wang LS, Buros J, Gallins PJ, Buxbaum JD, Ertekin-Taner N, Fallin MD, Friedland R, Inzelberg R, Kramer P, Rogaeva E, St George-Hyslop P, SG, Cantwell LB, Dombroski BA, Saykin AJ, Reiman EM, Bennett DA, Morris JC, Lunetta KL, Martin ER, Montine TJ, Goate AM, Blacker D, Tsuang DW, Beekly D, Cupples LA, Hakonarson H, Kukull W, Foroud TM, Haines J, Mayeux R, Farrer LA, Pericak-Vance MA, Schellenberg GD, Alzheimer’s Disease Genetics Consortium (including Geschwind DH (2010). Meta-analysis confirms CR1, CLU, and PICALM as Alzheimer disease risk loci and reveals interactions with APOE genotypes. Archives of Neurology. 67 (12): 1473-84.

2009

• Wiedau-Pazos M, Wong E, Solomon E, Alarcon M, Geschwind DH (2009). Wnt-pathway activation during the early stage of neurodegeneration in FTDP-17 mice. Neurobiology of Aging. 30(1): 14-21.
• Kelly TK, Karsten SL, Geschwind DH, Kornblum HI (2009). Cell lineage and regional identity of cultured spinal cord neural stem cells and comparison to brain-derived neural stem cells. PLoS One. 4(1): e4213.
• 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 (2009). Association and mutation analyses of 16p11.2 autism candidate genes. PLoS One. 4(2): e4582
• Winden KD, Oldham MC, Mirnics K, Ebert PJ, Swan CH, Levitt P, Rubenstein JL, Horvath S, Geschwind DH (2009). The organization of the transcriptional network in specific neuronal classes. Molecular System Biology. 5: 291.
• 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 DH, Masliah E, Chiba AA, Tuszynski MH (2009). Neuroprotective effects of brain-derived neurotrophic factor in rodent and primate models of Alzheimer’s disease. Nature Medicine. 15(3): 331-7.
• Wexler EM, Paucer A, Kornblum HI, Plamer TD, Geschwind DH (2009). Endogenous Wnt signaling maintains neural progenitor cell potency. Stem Cells. 27(5): 1130-41.
• Marques F, Sousa JC, Coppola G, Falcao AM, João Rodrigues A, Geschwind DH, Sousa N, Correia-Neves M, Palha JA (2009). Kinetic profile of the transcriptome changes induced in the choroid plexus by peripheral inflammation. Journal of Cerebral Blood Flow and Metabolism. 29(5): 921-32.
• 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 (2009). Common genetic variants on 5p14.1 associate with autism spectrum disorders. Nature. 28:459(7246): 528-33 (*Contributed equally.)
• Johnson MB, Kawasawa YI, Mason CE, Krsnik Z, Coppola G, Bogdanovic D, Geschwind DH, Mane SM, State MW, Sestan N (2009). Functional and evolutionary insights into human brain development through global transcriptome analysis. Neuron. 62(4): 494-509.
• Marques F, Falcao AM, Sousa JC, Coppola G, Geschwind DH, Sousa N, Correia-Neves M, Palha JA (2009). Altered iron metabolism is part of the choroid plexus response to peripheral inflammation. Endocrinology.150(6): 2822-8.
• Bajpai R, Coppola G, Kaul M, Talantova M, Cimadamore F, Nilbratt M, Geschwind DH, Lipton SA, Terskikh AV (2009). Molecular stages of rapid and uniform neutralization of human embryonic stem cells. Cell Death and Differentiation. 16(6): 807-25.
• 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 SFA, Schellenberg, Geschwind DH, Hakonarson H (2009). Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes. PLoS Genetics. (6): e1000536. (*Contributed equally.) One of the top ten breakthroughs in mental illness related research by NARSAD investigators of 2009.
• Zai L, Ferrari C, Subbaiah S, Havton LA, Coppola G. Strittmatter S, Irwin N, Geschwind DH, Benowitz LI (2009). Inosine alters gene expression and axonal projections in neurons contralateral to a cortical infarct and improves skilled use of the impaired limb. Journal of Neuroscience. 29(25): 8187-97.
• Coppola G, Marmolino D, Lu D, Wang Q, Cnop M, Rai M, Acquaviva F, Cocozza S, Pandolfo M, Geschwind DH (2009). 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. 18(13): 2452-61.
• 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 (2009). Two novel CYP7B1 mutations in Italian families with SPG5: A clinical and genetic study. Journal of Neurology. 256(8): 1252-7.
• Woods DL, Bushnell B, Kim H, Geschwind DH, Cummings J (2009). Apolipoprotein epsilon4 status is associated with behavioral symptoms in nursing home residents with dementia. International Psychogeriatrics. 21940: 722-8.
• Pappas DJ, Coppola G, Gabatto PA, Goa F, Geschwind DH, Oksenberg JR, Barazini SE (2009). Longitudinal system-based analysis of transcriptional responses to type I interferons. Physiological Genomics. 38(3): 362-71.
• Weiss LA, Arking DE, Gene Discovery Project of Johns Hopkins and the Autism Consortium, Daly MJ, Chakravarti A (2009). A genome-wide linkage and association scan reveals novel loci for autism. Nature. 461(7265): 802-8.
• Kadoya K, Tsukada S, Lu P, Coppola G, Geschwind DH, Filbin M, Blesch A, Tuszynski MH (2009). Combined intrinsic and extrinsic neuronal mechanisms facilitate bridging axonal regeneration one year after spinal cord injury. Neuron. 64(2): 165-72.
• Konopka G, Bomar JM, Winden K, Coppola G, Jonsson ZO, Gao F, Peng S, Preuss TM, Wohlschlegel JA, Geschwind DH (2009). Human-specific transcriptional regulation of CNS development by FOXP2. Nature. 462(7270): 213-7. One of the top ten breakthroughs in mental illness related research by NARSAD investigators of 2009, Highlighted in Nature News and Views. Dominguez MH and Rakic P. (Nov 12, 2009) 462: 169-170.
• Ziegler L, Segal-Ruder Y, Coppola G, Reis A, Geschwind DH, Fainzilber M, Goldstein RS (2009). A human neuron injury model for molecular studies of axonal regeneration. Experimental Neurology. 223(1): 119-27.
• Marques F, Sousa JC, Coppola G, Geschwind DH, Sousa N, Palha JA, Correia-Neves M (2009). The choroid plexus response to a repeated peripheral inflammatory stimulus. Biomedical Central Neuroscience. 10:135.

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 (2008). 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. 86(1): 48-60.
• Alarcón M, Stone JL, Duvall JA, Abrahams BS, Sebat J, Wigler M, Nelson SF, Cantor RM, Geschwind DH (2008). Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene. American Journal of Human Genetics. 82(1): 150-9.
• Bakkaloglu B, O’Roak BJ, Louvi A, Gupta AR, Abelson JF, Morgan TM, Chawarska K, Klin A, Ercan-Sencicek G, Stillman AA, Tanriover G, Abrahams BS, Duvall JA, Robbins EM, Geschwind DH, Biederer T, Gunel M, Lifton RP, State MW (2008). Molecular cytogenetic analysis and re-sequencing of contactin associated protein-like 2 in autism spectrum disorder. American Journal of Human Genetics. 82(1): 165-73.
• Miller JA, Oldham MC, Geschwind DH (2008). A systems level analysis of transcriptional changes in Alzheimer’s disease and normal aging. Journal of Neuroscience. 28(6): 1410-1420.
• Marques F, Rodrigues AJ, Sousa JC, Coppola G, Geschwind DH, Sousa N, Correia-Neves M, Palha JA (2008). Lipocalin 2 is a choroid plexus acute-phase protein. Journal of Cerebral Blood Flow and Metabolism. 28(3): 450-5.
• Mazefsky CA, Goin-Kochel RP, Riley BP, Maes HH, The Autism Genetic Resource Exchange Consortium (2008). Genetic and environmental influences on symptom domains in twins and siblings with autism. Research on Autism Spectrum Disorders. 2(2): 320-31.
• Rai M, Sorgani E, Jenssen K, Burnett R, Herman D, Coppola G, Geschwind DH, Gottesfeld JM, Pandolfo M (2008). HDAC inhibitors correct frataxin deficiency in a Friedreich ataxia mouse model. Public Library of Science ONE. 3(4): e1958.
• Lange PS, Chavez JD, Pinto JT, Coppola G, Sun CW, Townes TM, Geschwind DH, Ratan RR (2008). ATF4 is an oxidative stress-inducible, prodeath transcription factor in neurons in vitro and in vivo. Journal of Experimental Medicine. 205(5): 1227-42.
• 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, Futureal PA, Stratton MR, Mulley JC, Gecz J (2008). X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment. Nature Genetics. 40(6): 776-81.
• Coppola G, Karydas A, Rademakers R, Baker M, Hutton M, Miller BL, Geschwind DH (2008). Gene expression study on peripheral blood identifies progranulin mutations. Annals of Neurology. 64(1): 92-6.
• Abu-Elneel K, Liu T, Gazzaniga FS, Nishimura Y, Wall DP, Geschwind DH, Lao K, Kosik KS (2008). Heterogeneous dysregulation of microRNAs across the autism spectrum. Neurogenetics. 9(3): 153-61.
• Ringman JM, Younkin SG, Pratico D, Seltzer W, Cole G, Geschwind DH, Rodriguez Y, Schaffer BAJ, Fein J, Gylys KH, Varpetian A, Medina LD, Cummings JL (2008). Biochemical markers in persons with preclinical familial Alzheimer’s disease. Neurology. 71(2): 85-92.
• 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 (2008). Tauopathy with paired helical filaments in an aged chimpanzee. Journal of Comparative Neurology. 509(3): 259-70.
• 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 (2008). Novel mutations in TARDBP (TDP-43) in patients with familial amyotrophic lateral sclerosis. Public Library of Science Genetics. 4(9): e1000193.
• Loat CS, Curran S, Lewis CM, Duvall J, Geschwind DH, Bolton P, Craig IW (2008). Methyl-CpG-binding protein 2 polymorphisms and vulnerability to autism. Genes Brain and Behavior. 7(7): 754-60.
• Liu XQ, Paterson AD, Szatmari P, Bailey AJ,Baird G, Bartlett C, Battaglia A, Berney T, Betancur C, Bölte S, Bolton PF, Brian J, Bryson SE, Buxbaum JD, Cantor RM, Cook EH, Coon H, Corsello C, Cuccaro ML, Davis KL, Dawson G, de Jonge M, Devlin B, Ennis S, Estes A, Fombonne E, Freitag CM, Gallagher L, Geschwind DH, Gilbert J, Gill M, Gillberg C, Goldberg J, Green A, Green J, Guter SJ, Haines JL, Hallmayer J, Hus V, Klauck SM, Korvatska O, Lamb JA, Laskawiec M, Leboyer M, Le Couteur A, Leventhal BL, Lord C, Lotspeich L, Maestrini E, Mahoney W, Mantoulan C, McConachie H, McDougle CJ, McMahon WM, Miller J, Monaco AP, Munson J, Nurnberger JI Jr, Oliveira G, Papanikolaou K, Parr JR, Pericak-Vance MA, Pickles A, Piven J, Posey DJ, Poustka A, Poustka F, Renshaw K, Roberts W, Roge B, Rutter ML, Salt J, Schellenberg GD, Scherer SW, Sheffield VC, Sutcliffe JS, Thompson AP, Tsiantis J, Van Engeland H, Vicente AM, Vieland VJ, Volkmar F, Wallace S, Wassink TH, Wijsman EM, Wittemeyer K, Zwaigenbaum L (2008). Genome-wide linkage analysis of quantitative and categorical autism subphenotypes. Biological Psychiatry. 64(7): 561-70.
• Miller JE, Spiteri E, Condro MC, Dosumu-Johnson RT, Geschwind DH, White SA (2008). Birdsong decreases protein levels of FoxP2, a molecule required for human speech. Journal of Neurophysiology. 100(4): 2015-25.
• Schaffer B, Bertram L, Miller BL, Mullin K, Weintraub S, Johnson N, Bigio EH, Mesulam M-M, Wiedau-Pazos M, Jackson GR, Cummings JL, Cantor RM, Tanzi RE, Geschwind DH (2008). Association of GSK3B with Alzheimer’s disease and frontotemporal dementia. Archives of Neurology. 65(10): 1368-74.
• Thomas EA, Coppola G, Desplats PA, Tang B, Soragni E, Burnett R, Gao F, Fitzgerald KM, Borok JF, Herman D, Geschwind DH, Gottesfeld JM (2008). The HDAC inhibitor 4b ameliorates the disease phenotype and transcriptional abnormalities in Huntington’s disease transgenic mice. Proceedings of the National Academy of Sciences USA. 105(40): 15564-9.
• Oldham MC, Konopka G, Iwamoto K, Langfelder P, Kato T, Horvath S, Geschwind DH (2008). Functional organization of the transcriptome in human brain. Nature Neuroscience. 11(11): 1271-82.
• Carmichael ST, Vespa PM, Saver JL, Coppola G, Geschwind DH, Starkman S, Miller CM, Kidwell CS, Liebeskind DS, Martin NA (2008). Genomic profiles of damage and protection in human intracerebral hemorrhage. Journal of Cerebral Blood Flow and Metabolism. 28(11):1860-75.
• Vernes SC, Newbury DF, Abrahams BS, Winchester L, Nicod, Groszer M, Alarcón M, Oliver PL, Davies KE, Geschwind DH, Monaco AP, Fisher SE (2008). A functional genetic link between distinct developmental language disorders. New England Journal of Medicine. 359(22): 2337-45.
• 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 (2008). 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.1147: 383-94.
• Alvarez Retuerto AI, Cantor RM, Gleeson JG, Ustaszewska A, Schackwitz WS, Pennacchio LA, Geschwind DH (2008). Association of common variants in the Joubert syndrome gene (AHI1) with autism. Human Molecular Genetics.17(24): 3887-96.

2007

• Oliveira JRM, Sobrido MJ, Spiteri E, Hopfer S, Meroni G, Petek E, Baguero M, Geschwind DH (2007). Analysis of candidate genes at the IBGC1 locus associated with idiopathic basal ganglia calcification (“Fahr’s disease”). Journal of Molecular Neuroscience. 33(2): 151-4.
• 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, Langemeijer M, Hijmans 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 (2007). Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Nature Genetics. 39(3): 319-28.
• Stone JL, Merriman B, Cantor RM, Geschwind DH, Nelson SF (2007). High density SNP association study of a major autism linkage region on chromosome 17. Human Molecular Genetics. 16(6): 704-15.
• Rodrigues AJ, Coppola G, Santos C, Costa MC, Ailion M, Sequeiros J, Geschwind DH, Maciel, P (2007). Functional genomics and biochemical characterization of the elegans orthologue of the Machado-Joseph disease protein ataxin-3. Federation of American Societies for Experimental Biology. 21(4): 1126-36.
• Duvall JA, Lu A, Cantor RM, Todd RD, Constantino JN, Geschwind DH (2007). A quantitative trait locus analysis of social responsiveness in multiplex autism families. American Journal of Psychiatry. 164(4): 656-62. Erratum in: American Journal of Psychiatry. 164(6): 980.
• 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, Lehtimaki 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 (2007). Strong association of de novo copy number mutations with autism. Science. 316(5823): 445-9.
• Ringman JM, O’Neill J, Geschwind DH, Medina L, Apostolova LG, Rodriguez Y, Schaffer B, Varpetian A, Tseng B, Ortiz F, Fitten J, Cummings JL, Bartzokis G (2007). Diffusion tensor imaging in preclinical and presymptomatic carriers of familial Alzheimer’s disease mutations. Brain. 130(7): 1767-76.
• Nishimura Y, Martin CL, Vazquez-Lopez A, Spence SJ, Alvarez-Retuerto AI, Sigman M, Steindler C, Pellegrini S, Schanen NC, Warren ST, Geschwind DH (2007). Genome-wide expression profiling of lymphoblastoid cell lines distinguishes different forms of autism and reveals shared pathways. Human Molecular Genetics. 16(14): 1682-98.
• Zhao X, Leotta A, Kustanovich V, Lajonchere C, Geschwind DH, Law K, Law P, Qiu S, Lord C, Sebat J, Ye K, Wigler M (2007). A unified genetic theory for sporadic and inherited autism. Proceedings of the National Academy of Sciences USA. 104(31): 12831-6.
• Nakano I, Dougherty JD, Kim K, Klement I, Geschwind DH, Kornblum HI (2007). Phosphoserine phosphatase is expressed in the neural stem cell niche and regulates neural stem and progenitor cell proliferation. Stem Cells. 25(8): 1975-84.
• Kudo LC, Karsten SL, Chen J, Levitt P, Geschwind DH. (2007). Genetic analysis of anterior- posterior expression gradients in the developing mammalian forebrain. Cerebral Cortex. 17(9): 2108-22.
• 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 (2007). Phenotypic variability associated with progranulin haploinsufficiency in patients with the common (Arg493X) mutation: an international initiative. Lancet Neurology. 6(10): 857-68.
• 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 (2007). Cytogenetic and molecular characterization of A2BP1/FOX1 as a candidate gene for autism. American Journal of Medical Genetics B (Neuropsychiatric Genetics). 144(7): 869-76.
• Abrahams BS, Tentler D, Perederiy JV, Oldham MC, Coppola G, Geschwind DH (2007). Genome-wide analyses of human perisylvian cerebral cortical patterning. Proceedings of the National Academy of Sciences USA. 104(45): 17849–17854.
• Francks C, Maegawa S, Lauren 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, Moller 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 (2007). LRRTM1 on chromosome 2p12 is a maternally suppressed gene that is associated paternally with handedness and schizophrenia. Molecular Psychiatry. 12(12): 1129-39.
• Spiteri E, Konopka G, Coppola G, Bomar J, Oldham M, Ou J, Vernes SC, Fisher SE, Ren B, Geschwind DH (2007). Identification of the transcriptional targets of FOXP2, a gene linked to speech and language, in developing human brain. American Journal of Human Genetics. 81(6): 1144-57.
• Vernes SC, Spiteri E, Nicod J, Groszer M, Taylor JM, Davies KE, Geschwind DH, Fisher SE (2007). 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. 81:6,1232-1250.
• Bartzokis G, Lu PH, Geschwind DH, Tingus K, Huang D, Mendez MF, Edwards N, Mintz (2007). Apolipoprotein E affects both myelin breakdown and cognition: implications for age-related trajectories of decline into dementia. Biological Psychiatry. 62(12):1380-7.
• Wexler EM, Geschwind DH, Palmer TD (2007). Lithium regulates adult hippocampal progenitor development through canonical Wnt pathway activation. Molecular Psychiatry. 13(3): 285-92.

2006

• Ylisaukko-oja T, Alarcón M, Cantor RM, Auranen M, Vanhala R, Kempas E, von Wendt L, Jarvela I, Geschwind DH, Peltonen L (2006). Search for autism loci by combined analysis of Autism Genetic Resource Exchange and Finnish families. Annals of Neurology. 59(1): 145-155.
• Bartzokis G, Lu PH, Geschwind DH, Edwards N, Mintz J, Cummings JL (2006). Apolipoprotein E genotype and age-related myelin breakdown in healthy individuals: Implications for cognitive decline and dementia. Archives of General Psychiatry. 63:63-72.
• Groszer M, Erickson R, Scripture-Adams DD, Dougherty JD, Le Belle J, Zack JA, Geschwind DH, Liu X, Kornblum HI, Wu H (2006). PTEN negatively regulates neural stem cell self-renewal by modulating G0-G1 cell cycle entry. Proceedings of the National Academy of Sciences USA. 103(1): 111-116.
• Chen GK, Kono N, Geschwind DH, Cantor RM (2006). Quantitative trait locus analysis of nonverbal communication in autism spectrum disorder. Molecular Psychiatry. 11:214-220.
• Lobo MK, Karsten SL, Gray M, Geschwind DH, Yang XW (2006). FACS-array profiling of striatal projection neurons in juvenile and adult mouse brains. Nature Neuroscience. 9(3): 443-452.
• Coppola G, Choi SH, Santos MM, Miranda CJ, Tentler D, Wexler EM, Pandolfo M, Geschwind DH (2006). Gene expression profiling in frataxin deficient mice: Microarray evidence for significant expression changes without detectable neurodegeneration. Neurobiology of Disease. 22 (2): 302-311.
• Spence SJ, Cantor RM, Chung L, Kim S, Geschwind DH, Alarcon M (2006). Stratification based on language-related endophenotypes in autism: Attempt to replicate reported linkage. American Journal of Medical Genetics Part B (Neuropsychiatric Genetics). 141B: 591-598.
• Karsten SL, Sang T-K, Gehman LT, Chatterjee S, Liu J, Lawless GM, Sengupta S, Berry RW, Pomakian J, Oh HS, Schulz C, Wiedau-Pazos M, Vinters HV, Binder LI, Geschwind DH*, Jackson GR (2006). A genomic screen for modifiers of tauopathy identifies puromycin-sensitive aminopeptidase as an inhibitor of tau-induced neurodegeneration. Neuron. 51(5): 549-560. (*Co-corresponding author.)
• 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 (2006). Analysis of oncogenic signaling networks in glioblastoma identifies ASPM as a molecular target. Proceedings of the National Academy of Sciences USA. 103(46): 17402-17407.
• Oldham MC, Horvath S, Geschwind DH (2006). Conservation and evolution of gene coexpression networks in human and chimpanzee brains. Proceedings of the National Academy of Sciences USA. 103: 17973-17978.
• Sengupta S, Horowitz PM, Karsten SL, Jackson GR, Geschwind DH, Fu Y, Berry RW, Binder LI (2006). Degradation of tau protein by puromycin-sensitive aminopeptidase in vitro. Biochemistry. 45(50): 15111-9.
• Poon MM, Choi SH, Jamieson CA, Geschwind DH, Martin KC (2006). Identification of process-localized mRNAs from cultured rodent hippocampal neurons. Journal of Neuroscience. 26(51): 13390-9.
•  

2005

• Bartzokis G, Lu PH, Geschwind DH, Edwards N, Mintz J, Cummings JL (2005). Impact of APOE alleles on age-related myelin breakdown. Journal of Alzheimer’s and Dementia. 1: 28.
• Cantor RM, Kono N, Duvall JA, Alvarez-Retuerto A, Stone JL, Alarcón M, Nelson SF, Geschwind DH (2005). Replication of autism linkage: Fine-mapping peak at 17q21. American Journal of Human Genetics. 76:1050-1056.
• Sun T, Patoine C, Abu-Khalil A, Visvader J, Sum E, Cherry JT, Orkin SH, Geschwind DH, Walsh CA (2005). Early asymmetry of gene transcription in embryonic human left and right cerebral cortex. Science. 308(5729): 1794-1798.
• Alarcón M, Yonan AL, Gilliam TC, Cantor RM, Geschwind DH (2005). Quantitative genome scan and Ordered-Subsets Analysis of autism endophenotypes support language QTLs. Molecular Psychiatry. 10:747-757.
• Nakano I, Paucar AA, Bajpai R, Dougherty JD, Zewail A, Kelly TK, Kim KJ, Ou J, Grozer M, Imura T, Freije WA, Nelson SF, Sofroniew MV, Wu H, Liu X, Terskikh AV, Geschwind DH, Kornblum HI (2005). Maternal embryonic leucine zipper kinase (MELK) regulates multipotent neural progenitor proliferation. Journal of Cell Biology. 170(3): 413-427.
• Dougherty JD, Garcia ADR, Nakano I, Livingstone M, Norris B, Polakiewicz R, Wexler EM, Sofroniew MV, Kornblum HI, Geschwind DH (2005). PBK/TopK, a proliferating neural progenitor-specific mitogen-activated protein kinase kinase. Journal of Neuroscience. 25:10773-10785.
• Jarvik LF, LaRue A, Gokhman I, Harrison T, Holt L, Steh B, Harker J, Larson S, Yaralian P, Matsuyama S, Ragson N, Geschwind DH, Freimer N, Jiminez E, Schaeffer J (2005). Middle-aged children of Alzheimer parents, a pilot study: stable neurocognitive performance at 20-year follow-up. Journal of Geriatric Psychiatry and Neurology. 18:187-191.
• Bhidayasiri R, Perlman SL, Pulst SM, Geschwind DH (2005). Late-onset Friedreich ataxia: Phenotypic analysis, magnetic resonance imaging findings, and review of the literature. Archives of Neurology. 62(12): 1865-1869.

2004

• Hedlund E, Karsten SL, Kudo L, Geschwind DH, Carpenter E (2004). Identification of a Hoxd10-regulated transcriptional network and combinatorial interactions with Hoxa10 during spinal cord development. Journal of Neuroscience Research. 75: 307-319.
• Bragin A, Karsten SL, Almajano J, Wilson CL, Geschwind DH, Engel J (2004). Large-scale microarray gene expression analysis in discrete electrophysiologically identified neuronal clusters. Journal of Neuroscience Methods. 133: 49-55.
• Teramitsu I, Kudo LC, London SE, Geschwind DH, White SA (2004). Parallel FoxP1 and FoxP2 expression in human and songbird brain predicts functional interaction. Journal of Neuroscience. 24: 3152-3163.
• Jen JC, Chan W-M, Bosley TM, Wan J, Carr JR, Rüb U, Shattuck D, Salamon G, Kudo LC, Ou J, Lin DDM, Salih MAM, Kansu T, 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 J, Geschwind DH, Deller T, Sicotte NL, Nelson SF, Baloh RW, Engle EC (2004). Mutations in a human ROBO gene disrupt hindbrain axon pathway crossing and morphogenesis. Science. 304:1509-1513.
• Abu-Khalil A, Fu L, Grove EA, Zecevic N, Geschwind DH (2004). Wnt genes define sharp boundaries in the developing human brain: Implications for human forebrain patterning. Journal of Comparative Neurology. 474(2): 276-288.
• Geschwind DH, Dykens E (2004). Neurobehavioral and psychosocial issues in Klinefelter syndrome. Learning Disabilities Research & Practice. 19: 166-173.
• Assal F, Alarcón M, Solomon EC, Masterman D, Geschwind DH, Cummings JL (2004). Association of the serotonin transporter and receptor gene polymorphisms in neuropsychiatric symptoms in Alzheimer disease. Archives of Neurology. 61: 1249-1253.
• Schwarzbraun T, Vincent JB, Schumacher A, Geschwind DH, Oliveira J, Windpassinger C, Ofner L, Ledinegg MK, Kroisel PM, Wagner K, Petek E (2004). Cloning, genomic structure, and expression profiles of TULIP1 (GARNL1), a brain-expressed candidate gene for 14q13-linked neurological phenotypes, and its murine homologue. Genomics. 84: 577-586.
• Stone JL, Merriman B, Cantor RM, Yonan AL, Gilliam TC, Geschwind DH, Nelson SF (2004). Evidence for sex-specific risk alleles in autism spectrum disorder. American Journal of Human Genetics. 75:1117-1123.
• Oliveira JRM. 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 (2004). Genetic heterogeneity in familial idiopathic basal ganglia calcification (Fahr disease). Neurology. 63: 2165-7.

2003

• Schaffer BAJ, Wiedau-Pazos M, Geschwind DH (2003). Gene structure and alternative splicing of glycogen synthase kinase-3 beta (GSK-3ß) in neural and non-neural tissues. Gene. 302: 73-81.
• Sobrido MJ, Abu-Khalil A, Weintraub S, Johnson N, Quinn B, Cummings JL, Mesulam M-M, Geschwind DH (2003). Possible association of the tau H1/H1 genotype with primary progressive aphasia. Neurology. 60: 862-864.
• Sobrido MJ, Miller BL, Havlioglu N, Zhukareva V, Jiang Z, Nasreddine ZS, Lee VM-Y, Chow TW, Wilhelmsen KC, Cummings JL, Wu JY, Geschwind DH (2003). Novel tau polymorphisms, tau haplotypes, and splicing in familial and sporadic frontotemporal dementia. Archives of Neurology. 60: 698-702.
• Fu L, Abu-Khalil A, Morrison RS, Geschwind DH, Kornblum HI (2003). Expression patterns of epidermal growth factor receptor and fibroblast growth factor receptor 1 mRNA in fetal human brain. Journal of Comparative Neurology. 462: 265-273.
• Compton P, Geschwind DH, Alarcón M (2003). Association between human µ-opioid receptor gene polymorphism, pain tolerance and opioid addiction. American Journal of Medical Genetics. 121: 76-82.
• Fales CL, Knowlton BJ, Holyoak KJ, Geschwind DH, Swerdloff RS, Gonzalo IG (2003). Working memory and relational reasoning in Klinefelter syndrome. Journal of International Neuropsychological Society. 9: 839-846.
• Karsten SL, Kudo LC, Jackson R, Sabatti C, Kornblum HI, Geschwind DH (2003). Global analysis of gene expression in neural progenitors reveals specific cell-cycle, signaling, and metabolic networks. Developmental Biology. 261: 165-182.
• 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 (2003). A genomewide screen of 345 families for autism-susceptibility loci. American Journal of Human Genetics. 73: 886-897. (*Corresponding author.)
• Cáceres M, Lachuer J, Zapala MA, Redmond JC, Kudo L, Geschwind DH, Lockhart DJ, Preuss TM, Barlow C (2003). Elevated gene expression levels distinguish human from non-human primate brains. Proceedings of the National Academy of Sciences USA. 100: 13030-13035.
• Itti E, Gaw Gonzalo IT, Boone KB, Geschwind DH, Berman N, Pawlikowska-Haddal A, Itti L, Mishkin FS, Swerdloff RS (2003). Functional neuroimaging provides evidence of anomalous cerebral laterality in adults with Klinefelter’s syndrome. Annals of Neurology. 54: 669-673.
• Simpson JL, de la Cruz F, Swerdloff RS, Samango-Sprouse C, Skakkebaek NE, Graham JM Jr, Hassold T, Aylstock M, Meyer-Bahlburg RF, Willard HF, Hall JG, Salameh W, Boone K, Staessen C, Geschwind DH, Giedd J, Dobs AS, Rogol A, Brinton B, Paulsen CA (2003). Klinefelter’s syndrome: Expanding the phenotype and identifying new research directions. Genetics in Medicine. 5: 460-468.
• Hemmati HD, Nakano I, Lazareff JA, Masterman-Smith M, Geschwind DH, Bronner-Fraser M, Kornblum HI (2003). Cancerous stem cells can arise from pediatric brain tumors. Proceedings of the National Academy of Sciences USA. 100: 15178-15183.
• 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 (2003). Neural progenitor genes: Germinal zone expression and analysis of genetic overlap in stem cell populations. Developmental Biology. 264: 309-322.

2002

• Alarcón M, Cantor RM, Liu J, Gilliam TC, The Autism Genetic Resource Exchange Consortium, Geschwind DH (2002). Evidence for a language quantitative trait locus on chromosome 7q in multiplex autism families. American Journal of Human Genetics. 70: 60-71.
• Karsten SL, Van Deerlin VMD, Sabatti C, Gill L, Geschwind DH (2002). An evaluation of tyramide signal amplification and archived fixed and frozen tissue in microarray gene expression analysis. Nucleic Acids Research. 30(2): E4.
• Sabatti C, Karsten SL, Geschwind DH (2002). Threshholding rules for recovering a sparse signal from microarray experiments. Mathematical Biosciences. 176: 17-34.
• Geschwind DH, Miller BL, DeCarli C, Carmelli D (2002). Heritability of lobar brain volumes in twins supports genetic models of cerebral laterality and handedness. Proceedings of the National Academy of Sciences USA. 99: 3176-3181.
• Jackson GR, Wiedau-Pazos M, Sang T-K, Wagle N, Brown CA, Massachi S, Geschwind DH (2002). Human wild type tau interacts with wingless pathway components and produces neurofibrillary pathology in Drosophila. Neuron. 34: 1-20.
• Ohira R, Zhang Y-H, Guo W, Dipple K, Shih SL, Doerr J, Huang B-L, Fu L, Abu-Khalil A, Geschwind DH, McCabe ERB (2002). Human ARX gene: Genomic characterization and expression. Molecular Genetics and Metabolism. 77: 179-188.

2001

• Terskikh AV, Easterday MC, Li L, Hood L, Kornblum HI, Geschwind DH, Weissman IL (2001). From hematopoiesis to neuropoiesis: Evidence of overlapping genetic programs. Proceedings of the National Academy of Sciences USA. 98:7934-7939.
• McKhann GM, Albert MS, Grossman M, Miller B, Dickson D, Trojanowski JQ (2001). Report of the Work Group* on frontotemporal dementia and Pick’s disease. Archives of Neurology. 58: 1803-1809. (*DH Geschwind, Work Group member and contributor to the Summary.)
• Geschwind DH, Ou J, Easterday MC, Dougherty JD, Jackson RJ, Chen Z, Antoine H, Terskikh A, Weissman IL, Nelson SF, Kornblum HI (2001). A genetic analysis of neural progenitor differentiation. Neuron. 29(2): 325-39.
• Boone KB, Swerdloff RS, Miller BL, Geschwind DH, Razani J, Lee A, Gonzalo JG, Haddal A, Rankin K, Lu P, Paul L (2001). Neuropsychological profiles of adults with Klinefelter syndrome. Journal of the International Neuropsychological Society. 7: 446-456.
• Liu J, Nyholt DR, Magnussen P, Parano E, Pavone P, Geschwind DH, Lord C, Iversen P, Hoh J, Ott J, Gilliam TC, The Autism Genetic Resource Exchange (2001). A genome-wide screen for autism susceptibility loci. American Journal of Human Genetics. 69: 327-340.
• Geschwind, DH, Sowinski, J, Lord, C, Iversen, P, Shestack, J, Jones, P, Ducat, L, Spence, SJ (2001). The Autism Genetic Resource Exchange: A resource for the study of autism and related neuropsychiatric conditions. American Journal of Human Genetics. 69(2): 463-6.
• Figueroa KP, Chan P, Schöls L, Tanner C, Riess O, Perlman SL, Geschwind DH, Pulst SM (2001). Association of moderate polyglutamine tract expansions in the slow calcium-activated potassium channel type 3 with ataxia. Archives of Neurology. 58(10): 1649-1653.
• Sobrido MJ, Cholfin JA, Perlman S, Pulst S-M, Geschwind DH (2001). SCA8 repeat expansions in ataxia: A controversial association. Neurology. 57: 1310-1313.
• Cholfin JA, Sobrido MJ, Perlman S, Pulst SM, Geschwind DH (2001). The SCA12 mutation as a rare cause of spinocerebellar ataxia. Archives of Neurology. 58: 1833-1835.
• Geschwind DH, Robidoux J, Alarcón M, Miller BL, Wilhelmsen KC, Cummings JL, Nasreddine ZS (2001). Dementia and neurodevelopmental predisposition: Cognitive dysfunction in presymptomatic subjects precedes dementia by decades in frontotemporal dementia. Annals of Neurology. 50: 741-746.

1999

• Nasreddine ZS, Loginov M, Clark L, Lamarche J, Miller BL, Lamontagne A, Zhukareva V, Lee VM-Y, Wilhelmsen K, Geschwind DH (1999). 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. 45: 704-715.
• Chow T, Miller BL, Hayashi V, Geschwind DH (1999). The inheritance of frontotemporal dementia. Archives of Neurology. 56: 817-822.
• Geschwind DH, Loginov M, Stern JM (1999). Identification of a locus on chromosome 14q for idiopathic basal ganglia calcification (Fahr disease). American Journal of Human Genetics. 65: 764- 772.

1998

• Geschwind DH, Cummings JL, and the CAN Consensus Group (1998). Autism screening and diagnostic evaluation: CAN Consensus statement. CNS Spectrums. 3(3): 40-49. (Highlighted in editorial.)
• 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 (1998). 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. 23(3): 215-29.
• Weinstein J, Karrim J, Geschwind DH, Nelson SF, J Krumm, Sakamoto KM (1998). Genomic organization, 5′ flanking enhancer region, and chromosomal assignment of the cell cycle gene, p55Cdc. Molecular Genetics and Metabolism. 64: 52-7.
• Geschwind DH, Karrim J, Nelson SF, Miller B (1998). The apolipoprotein E epsilon4 allele is not a significant risk factor for frontotemporal dementia. Annals of Neurology. 44(1): 134-138.
• Buttner N, Geschwind DH, Jen JC, Perlman S, Pulst S-M, Baloh RW (1998). Oculomotor phenotypes in autosomal dominant ataxias. Archives of Neurology. 55(10): 1353-7.
• Clark LN, Poorkaj P, Wszolek Z, Geschwind DH, Nasreddine ZS, Miller BL, Li D, Payami H, Arwert F, Markopoulou K, Andreadis A, D’Souza I, Lee VM-Y, Reed L, Trojanowski JQ, Zhukareva V, Bird T, Schellenberg G, Wilhelmsen KC (1998). Pathogenic implications of mutations in the tau gene in pallido-ponto-nigral degeneration and related neurodegenerative disorders linked to chromosome 1. Proceedings of the National Academy of Sciences USA. 95(22): 13103-7.
• Hong M, Zhukareva V, Vogelsberg-Ragaglia V, Wszolek Z, Reed L, Miller B, Geschwind DH, Bird TD, McKeel D, Goate A, Morris JC, Wilhelmsen KC, Schellenberg GD, Trojanowski JQ, Lee VM-Y (1998). Mutation-specific functional impairments in distinct tau isoforms in hereditary FTDP-17. Science. 282(5395): 1914-1917.

1997

• Geschwind DH, Perlman S, Figueroa KP, Treiman LJ, Pulst SM (1997). 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. 60(4): 842-850. (Highlighted in editorial.)
• Parent JM, Yu T, Leibowitz RT, Geschwind DH, Sloviter RS, Lowenstein DH (1997). Dentate granule cell neurogenesis is induced by seizures and contributes to aberrant network reorganization in the adult rat hippocampus. Journal of Neuroscience. 17(10): 3727-38.
• Geschwind DH, Perlman S, Grody WW, Telatar M, Montermini L, Pandolfo M, Gatti RA (1997). The Friedreich’s ataxia GAA repeat expansion in patients with recessive or sporadic ataxia. Neurology. 49(4): 1004-9.
• Geschwind DH, Perlman S, Figueroa KP, J, Baloh RW, Pulst SM (1997). Spinocerebellar ataxia type 6: Frequency of the mutation and genotype-phenotype correlations. Neurology. 49: 1247-1251. (Highlighted in editorial.)

1996

• Geschwind DH, Rhee R, Nelson SF (1996). A biotinylated MutS fusion protein and its use in a rapid mutation screening technique. Genetic Analysis: Biomolecular Engineering. 13(4): 105-11.
• Geschwind DH, Kelly GM, Fryer H, Feeser-Bhatt H, Hockfield S (1996). Identification and characterization of novel developmentally regulated proteins in rat spinal cord. Developmental Brain Research. 97(1): 62-75.

1995

• Geschwind DH, FitzPatrick M, Mischel PS, Cummings JL (1995). Sneddon’s syndrome is a thrombotic vasculopathy: Neuropathologic and neuroradiologic evidence. Neurology. 45(3): 557-558.
• Geschwind DH, Iacoboni M, Mega MS, Zaidel DW, Cloughesy T, Zaidel E (1995). The alien hand syndrome: Interhemispheric motor disconnection due to a lesion in the midbody of the corpus callosum. Neurology. 45: 804-808.
• Minturn JE, Geschwind DH, Fryer HJL, Hockfield S (1995). Early post mitotic neurons transiently express TOAD-64, a neural specific protein. Journal of Comparative Neurology. 355(3): 369-379.
• Minturn JE, Geschwind DH, Fryer HJL, Hockfield S (1995). TOAD-64, A gene expressed early in neuronal differentiation in the rat, is related to unc-33, a elegans gene involved in axon outgrowth. Journal of Neuroscience. 15(10): 6757-6766.

1989

• Lidow MS, Goldman-Rakic PS, Gallager DW, Geschwind DH, Rakic P (1989). Distribution of major neurotransmitter receptors in the motor and sensory cortex of the rhesus monkey. Neuroscience. 32:609-627.
• Geschwind DH, Hockfield S (1989). Identification of proteins that are developmentally regulated during early cerebral corticogenesis in the rat. Journal of Neuroscience. 9: 4303-4317.