Publications
2020
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Swarup, V., Chang, T.S., Duong, D.M., Dammer, E.B., Dai, J., Lah, J.J., Johnson, E.C.B., Seyfried, N.T.,
Levey, A.I., and Geschwind, D.H. (2020). Identification of Conserved
Proteomic Networks
in Neurodegenerative
Dementia. Cell Reports 31.
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Lawrence KE, Hernandez LM, Eilbott J, Jack A, Aylward E, ...Geschwind DH, ...GENDAAR
Consortium. (2020). Neural responsivity to social
rewards in autistic female youth. Transl Psychiatry 10(1):178.
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Walker RL, Ramaswami G, Hartl C, Mancuso N, Gandal MJ, de la Torre-Ubieta L, ...Geschwind
DH (2020). Genetic Control of
Expression
and Splicing in Developing Human Brain Informs Disease Mechanisms. Cell 181(3):745.
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Lawrence KE, Hernandez LM, Bowman HC, Padgaonkar NT, Fuster E, ...Geschwind DH,
...GENDAAR
Consortium. (2020). Sex Differences in Functional
Connectivity of the Salience, Default Mode, and Central Executive Networks in Youth with ASD.
Cereb Cortex 10.1093/cercor/bhaa105. [Epub ahead of print]
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Walker RL, Ramaswami G, Hartl C, Mancuso N, Gandal MJ, Torre-Ubieta L, ...Geschwind DH
(2020). Genetic Control of Expression and
Splicing in
Developing Human Brain Informs Disease Mechanisms. Cell 181(2):484.
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Gordon A, Geschwind DH (2020). Human
in vitro models for understanding mechanisms of autism spectrum disorder. Mol Autism
11(1):26.
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Bayraktar OA, Bartels T, Holmqvist S, Kleshchevnikov V, Martirosyan A, ...Geschwind DH,
...Rowitch DH (2020). Astrocyte layers in the
mammalian cerebral cortex revealed by a single-cell in situ transcriptomic map. Nat
Neurosci
23(4):500-509.
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Hernandez LM, Lawrence KE, Padgaonkar NT, Inada M, Hoekstra JN, ...Geschwind DH,
...GENDAAR
Consortium. (2020). Imaging-genetics of sex
differences in ASD: distinct effects of OXTR variants on brain connectivity. Transl
Psychiatry 10(1):82.
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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.
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Forsyth JK, Nachun D, Gandal MJ, Geschwind DH, Anderson AE, Coppola G, Bearden CE
(2019).
Synaptic and Gene Regulatory Mechanisms in
Schizophrenia, Autism, and 22q11.2 Copy Number Variant-Mediated Risk for Neuropsychiatric
Disorders.
Biol Psychiatry 87(2):150-163.
2019
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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.
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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.
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Brown JA, Deng J, Neuhaus J, Sible IJ, Sias AC, ...Geschwind DH, ...Seeley WW (2019).
Patient-Tailored, Connectivity-Based Forecasts of
Spreading Brain Atrophy. Neuron 10.1016/j.neuron.2019.08.037. [Epub ahead of print]
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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.
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Forsyth JK, Nachun D, Gandal MJ, Geschwind DH, Anderson AE, Coppola G, Bearden CE
(2019). Synaptic and Gene Regulatory Mechanisms
in Schizophrenia, Autism, and 22q11.2 Copy Number Variant-Mediated Risk for Neuropsychiatric
Disorders. Biol Psychiatry 10.1016/j.biopsych.2019.06.029. [Epub ahead of print]
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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.
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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.
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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.
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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.
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Wong CCY, Smith RG, Hannon E, Ramaswami G, Parikshak NN, ...Geschwind DH, ...Mill J
(2019). Genome-wide DNA methylation profiling
identifies convergent molecular signatures associated with idiopathic and syndromic autism in
post-mortem human brain tissue. Hum Mol Genet 28(13):2201-2211.
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Fricano-Kugler C, Gordon A, Shin G, Gao K, Nguyen J, Berg J, ...Geschwind DH (2019). CYFIP1 overexpression increases fear response in
mice but does not affect social or repetitive behavioral phenotypes. Mol Autism 10():25.
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Pardiñas AF, Holmans P, Pocklington AJ, Escott-Price V, Ripke S, ...Geschwind DH,
...Walters JTR (2019). Publisher Correction:
Common schizophrenia alleles are enriched in mutation-intolerant genes and in regions under strong
background selection. Nat Genet 51(7):1193.
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Won H, Huang J, Opland CK, Hartl CL, Geschwind DH (2019). Human evolved regulatory elements modulate genes
involved in cortical expansion and neurodevelopmental disease susceptibility. Nat Commun
10(1):2396.
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Sharon G, Cruz NJ, Kang DW, Gandal MJ, Wang B, ...Geschwind DH, ...Mazmanian SK (2019).
Human Gut Microbiota from Autism Spectrum
Disorder Promote Behavioral Symptoms in Mice. Cell 177(6):1600-1618.e17.
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Lazaro MT, Taxidis J, Shuman T, Bachmutsky I, Ikrar T, ...Geschwind DH, ...Golshani P
(2019). Reduced Prefrontal Synaptic Connectivity
and Disturbed Oscillatory Population Dynamics in the CNTNAP2 Model of Autism. Cell Rep
27(9):2567-2578.e6.
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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.
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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.
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Alim I, Caulfield JT, Chen Y, Swarup V, Geschwind DHGeschwind DH,
...Ratan RR (2019). Selenium Drives a
Transcriptional Adaptive Program to Block Ferroptosis and Treat Stroke. Cell
177(5):1262-1279.e25.
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Armenta TC, Cole SW, Geschwind DH, Blumstein DT, Wayne RK (2019). Gene expression shifts in yellow-bellied marmots
prior to natal dispersal. Behav Ecol 30(2):267-277.
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Sangare M, Toure HB, Toure A, Karembe A, Dolo H, Coulibaly YI, ...Geschwind DH (2019).
Validation of two parent-reported autism spectrum
disorders screening tools M-CHAT-R and SCQ in Bamako, Mali. eNeurologicalSci 15():100188.
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Lee SE, Sias AC, Kosik EL, Flagan TM, Deng J, ...Geschwind DH, ...Seeley WW (2019). Thalamo-cortical network hyperconnectivity in
preclinical progranulin mutation carriers. Neuroimage Clin 22():101751.
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Sullivan PF, Geschwind DH (2019). Defining the Genetic, Genomic, Cellular, and
Diagnostic Architectures of Psychiatric Disorders. Cell 177(1):162-183.
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Kunkle BW, Grenier-Boley B, Sims R, Bis JC, Damotte V, ...Geschwind DH, ...Genetic and
Environmental Risk in AD/Defining Genetic, Polygenic and Environmental Risk for Alzheimer’s Disease
Consortium (GERAD/PERADES),. (2019). Genetic
meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau,
immunity and lipid processing. Nat Genet 51(3):414-430.
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Grove J, Ripke S, Als TD, Mattheisen M, Walters RK, ...Geschwind DH, ...Børglum AD
(2019). Identification of common genetic risk
variants for autism spectrum disorder. Nat Genet 51(3):431-444.
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Schork AJ, Won H, Appadurai V, Nudel R, Gandal M, ...Geschwind DH, ...Werge T (2019).
A genome-wide association study of shared risk
across psychiatric disorders implicates gene regulation during fetal neurodevelopment. Nat
Neurosci 22(3):353-361.
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Yoon SJ, Elahi LS, Pașca AM, Marton RM, Gordon A, ...Geschwind DH, ...Pașca SP (2018).
Reliability of human cortical organoid
generation. Nat Methods 16(1):75-78.
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Tran SS, Jun HI, Bahn JH, Azghadi A, Ramaswami G, ...Geschwind DH, ...Xiao X (2018). Widespread RNA editing dysregulation in brains
from autistic individuals. Nat Neurosci 22(1):25-36.
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Nana AL, Sidhu M, Gaus SE, Hwang JL, Li L, ...Geschwind DH, ...Seeley WW (2018). Neurons selectively targeted in frontotemporal
dementia reveal early stage TDP-43 pathobiology. Acta Neuropathol 137(1):27-46.
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Swarup V, Hinz FI, Rexach JE, Noguchi KI, Toyoshiba H, Oda A, ...Geschwind DH (2018).
Identification of evolutionarily conserved gene
networks mediating neurodegenerative dementia. Nat Med 25(1):152-164.
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Kimura R, Swarup V, Tomiwa K, Gandal MJ, Parikshak NN, ...Geschwind DH, ...Hagiwara M
(2018). Integrative network analysis reveals
biological pathways associated with Williams syndrome. J Child Psychol Psychiatry
60(5):585-598.
2018
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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].
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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.
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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.
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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.
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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.
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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.
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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].
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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.
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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.
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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.
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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.
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Geschwind DH, Paulson HL, Klein C. Preface. Handb Clin
Neurol. 147: ix-x.
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Geschwind DH (2018). Evolving views of human genetic variation and its relationship to neurologic and
psychiatric disease. Handb Clin Neurol. 147: 37-42
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Ramaswami G, Geschwind DH (2018). Genetics of autism spectrum
disorder. Handb Clin Neurol. 147: 321-329.
2017
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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Hinz FI, Geschwind DH (2017). Molecular Genetics of Neurodegenerative Dementias. Cold Spring Harbor
Perspectives in Biology. 9(4).
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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.
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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.
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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
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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.
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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.
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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.
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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.
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Sharon G, Sampson TR, Geschwind DH, Mazmanian SK (2016). The Central Nervous System and
the Gut Microbiome. Cell. 167(4): 915-932.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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Gandal MJ, Geschwind DH (2016). The Genetics-Driven Revival in Neuropsychiatric Drug Development. Biological
Psychiatry. 79(8): 628-30.
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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.
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Ruzzo EK, Geschwind DH (2016). Schizophrenia genetics complements its mechanistic understanding. Nature
Neuroscience. 19(4): 523-5.
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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.
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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.
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Werling DM, Parikshak NN, Geschwind DH (2016). Gene expression in human brain
implicates sexually dimorphic pathways in autism spectrum disorders. Nature
Communications. 7: 10717.
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Jeste SS, Geschwind DH (2016). Clinical trials for neurodevelopmental disorders: At a therapeutic frontier.
Science Translational Medicine. 8(321): 321fs1.
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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.
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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
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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The UK10K Consortium (2015). The UK10K project identifies rare variants in health and disease. Nature.
526(7571):82-90.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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
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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.
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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.
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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.)
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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.
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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.
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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.
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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.
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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.
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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
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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.)
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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.
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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.
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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
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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.
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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
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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.
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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.
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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.
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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
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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.
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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.