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Jonathan Sebat
Jonathan Sebat
Professor of Psychiatry and Cellular & Molecular Medicine, UC San Diego
Dirección de correo verificada de ucsd.edu - Página principal
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A map of human genome variation from population scale sequencing
1000 Genomes Project Consortium
Nature 467 (7319), 1061, 2010
89042010
An integrated map of genetic variation from 1,092 human genomes
1000 Genomes Project Consortium
Nature 491 (7422), 56, 2012
85282012
Strong association of de novo copy number mutations with autism
J Sebat, B Lakshmi, D Malhotra, J Troge, C Lese-Martin, T Walsh, ...
Science 316 (5823), 445-449, 2007
35032007
Large-scale copy number polymorphism in the human genome
J Sebat, B Lakshmi, J Troge, J Alexander, J Young, P Lundin, S Manér, ...
Science 305 (5683), 525-528, 2004
31792004
An integrated map of structural variation in 2,504 human genomes
PH Sudmant, T Rausch, EJ Gardner, RE Handsaker, A Abyzov, ...
Nature 526 (7571), 75-81, 2015
24912015
Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia
T Walsh, JM McClellan, SE McCarthy, AM Addington, SB Pierce, ...
science 320 (5875), 539-543, 2008
21522008
Modelling schizophrenia using human induced pluripotent stem cells
KJ Brennand, A Simone, J Jou, C Gelboin-Burkhart, N Tran, S Sangar, ...
Nature 473 (7346), 221-225, 2011
16542011
Mapping copy number variation by population-scale genome sequencing
RE Mills, K Walter, C Stewart, RE Handsaker, K Chen, C Alkan, A Abyzov, ...
Nature 470 (7332), 59-65, 2011
13152011
Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene
M Alarcón, BS Abrahams, JL Stone, JA Duvall, JV Perederiy, JM Bomar, ...
The American Journal of Human Genetics 82 (1), 150-159, 2008
10342008
CNVs: harbingers of a rare variant revolution in psychiatric genetics
D Malhotra, J Sebat
Cell 148 (6), 1223-1241, 2012
10042012
Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects
CR Marshall, DP Howrigan, D Merico, B Thiruvahindrapuram, W Wu, ...
Nature genetics 49 (1), 27-35, 2017
9812017
Recurrent rearrangements of chromosome 1q21. 1 and variable pediatric phenotypes
HC Mefford, AJ Sharp, C Baker, A Itsara, Z Jiang, K Buysse, S Huang, ...
New England Journal of Medicine 359 (16), 1685-1699, 2008
8572008
Microduplications of 16p11. 2 are associated with schizophrenia
SE McCarthy, V Makarov, G Kirov, AM Addington, J McClellan, S Yoon, ...
Nature genetics 41 (11), 1223-1227, 2009
8312009
Multi-platform discovery of haplotype-resolved structural variation in human genomes
MJP Chaisson, AD Sanders, X Zhao, A Malhotra, D Porubsky, T Rausch, ...
Nature communications 10 (1), 1784, 2019
8142019
Sensitive and accurate detection of copy number variants using read depth of coverage
S Yoon, Z Xuan, V Makarov, K Ye, J Sebat
Genome research 19 (9), 1586-1592, 2009
7542009
Demographic history and rare allele sharing among human populations
S Gravel, BM Henn, RN Gutenkunst, AR Indap, GT Marth, AG Clark, F Yu, ...
Proceedings of the National Academy of Sciences 108 (29), 11983-11988, 2011
7332011
Whole-genome sequencing in autism identifies hot spots for de novo germline mutation
JJ Michaelson, Y Shi, M Gujral, H Zheng, D Malhotra, X Jin, M Jian, G Liu, ...
Cell 151 (7), 1431-1442, 2012
6822012
A recurrent 16p12. 1 microdeletion supports a two-hit model for severe developmental delay
S Girirajan, JA Rosenfeld, GM Cooper, F Antonacci, P Siswara, A Itsara, ...
Nature genetics 42 (3), 203-209, 2010
6802010
Inferring the molecular and phenotypic impact of amino acid variants with MutPred2
V Pejaver, J Urresti, J Lugo-Martinez, KA Pagel, GN Lin, HJ Nam, M Mort, ...
Nature communications 11 (1), 5918, 2020
6042020
Genomewide association studies: history, rationale, and prospects for psychiatric disorders
Psychiatric GWAS Consortium Coordinating Committee
American Journal of Psychiatry 166 (5), 540-556, 2009
6032009
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Artículos 1–20