Publications

A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders

Ngo KJ, Rexach JE, Lee H, Petty LE, Perlman S, …Geschwind DH, …Fogel BL (2019). A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders. Hum Mutat. 41(2):487-501.

Preferential tau aggregation in von Economo neurons and fork cells in frontotemporal lobar degeneration with specific MAPT variants

Lin LC, Nana AL, Hepker M, Hwang JL, Gaus SE, …Geschwind DH, …Seeley WW (2019). Preferential tau aggregation in von Economo neurons and fork cells in frontotemporal lobar degeneration with specific MAPT variants. Acta Neuropathol Commun. 7(1):159.

Genetic Control of Expression and Splicing in Developing Human Brain Informs Disease Mechanisms

Walker RL, Ramaswami G, Hartl C, Mancuso N, Gandal MJ, de la Torre-Ubieta L, …Geschwind DH (2019). Genetic Control of Expression and Splicing in Developing Human Brain Informs Disease Mechanisms. Cell. 179(3):750-771.e22.

A framework for the investigation of rare genetic disorders in neuropsychiatry

Sanders SJ, Sahin M, Hostyk J, Thurm A, Jacquemont S, …Geschwind DH, …Bearden CE (2019). A framework for the investigation of rare genetic disorders in neuropsychiatry. Nat Med. 25(10):1477-1487.

A Single-Cell Transcriptomic Atlas of Human Neocortical Development during Mid-gestation

Polioudakis D, de la Torre-Ubieta L, Langerman J, Elkins AG, Shi X, Stein JL, …Geschwind DH (2019). A Single-Cell Transcriptomic Atlas of Human Neocortical Development during Mid-gestation. Neuron. 103(5):785-801.e8.

Gyrification abnormalities in presymptomatic c9orf72 expansion carriers

Caverzasi E, Battistella G, Chu SA, Rosen H, Zanto TP, …Geschwind DH, …Lee SE (2019). Gyrification abnormalities in presymptomatic c9orf72 expansion carriers. J Neurol Neurosurg Psychiatry. 90(9):1005-1010.

Author Correction: Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing

Kunkle BW, Grenier-Boley B, Sims R, Bis JC, Damotte V, …Geschwind DH, …Pericak-Vance MA (2019). Author Correction: Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing. Nat Genet. 51(9):1423-1424.

Profiling allele-specific gene expression in brains from individuals with autism spectrum disorder reveals preferential minor allele usage

Lee C, Kang EY, Gandal MJ, Eskin E, Geschwind DH (2019). Profiling allele-specific gene expression in brains from individuals with autism spectrum disorder reveals preferential minor allele usage. Nat Neurosci. 22(9):1521-1532.

Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks

Ruzzo EK, Pérez-Cano L, Jung JY, Wang LK, Kashef-Haghighi D, …Geschwind DH, …Wall DP (2019). Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks. Cell. 178(4):850-866.e26.

Genome-wide survey of copy number variants finds MAPT duplications in progressive supranuclear palsy

Chen Z, Chen JA, Shatunov A, Jones AR, Kravitz SN, …Geschwind DH, …Al-Chalabi A (2019). Genome-wide survey of copy number variants finds MAPT duplications in progressive supranuclear palsy. Mov Disord. 34(7):1049-1059.