Publications

Evolving views of human genetic variation and its relationship to neurologic and psychiatric disease

Geschwind DH (2018). Evolving views of human genetic variation and its relationship to neurologic and psychiatric disease. Handb Clin Neurol. 147: 37-42

Genetics of autism spectrum disorder

Ramaswami G, Geschwind DH (2018). Genetics of autism spectrum disorder. Handb Clin Neurol. 147: 321-329.

Preface

Geschwind DH, Paulson HL, Klein C. Preface. Handb Clin Neurol. 147: ix-x.

Additive effects of oxytocin receptor gene polymorphisms on reward circuitry in youth with autism

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.

Enhancing the Informativeness and Replicability of Imaging Genomics Studies

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.

Brain calcifications and PCDH12 variants

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.

Prevalence of spinocerebellar ataxia 36 in a US population

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.

Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer’s disease

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.

The contribution of rare variants to risk of schizophrenia in individuals with and without intellectual disability

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.

Altered proliferation and networks in neural cells derived from idiopathic autistic individuals

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.