Publications

2020

2019

2018

2017

2016

2015

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

2011

2010

2009

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.