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Jay Shendure
Jay Shendure
Professor of Genome Sciences, University of Washington
Verified email at uw.edu
Title
Cited by
Cited by
Year
Next-generation DNA sequencing
J Shendure, H Ji
Nature biotechnology 26 (10), 1135-1145, 2008
66912008
A general framework for estimating the relative pathogenicity of human genetic variants
M Kircher, DM Witten, P Jain, BJ O'roak, GM Cooper, J Shendure
Nature genetics 46 (3), 310-315, 2014
65162014
CADD: predicting the deleteriousness of variants throughout the human genome
P Rentzsch, D Witten, GM Cooper, J Shendure, M Kircher
Nucleic acids research 47 (D1), D886-D894, 2019
31892019
The single-cell transcriptional landscape of mammalian organogenesis
J Cao, M Spielmann, X Qiu, X Huang, DM Ibrahim, AJ Hill, F Zhang, ...
Nature 566 (7745), 496-502, 2019
30202019
The contribution of de novo coding mutations to autism spectrum disorder
I Iossifov, BJ O’roak, SJ Sanders, M Ronemus, N Krumm, D Levy, ...
Nature 515 (7526), 216-221, 2014
27152014
Targeted capture and massively parallel sequencing of 12 human exomes
SB Ng, EH Turner, PD Robertson, SD Flygare, AW Bigham, C Lee, ...
Nature 461 (7261), 272-276, 2009
27082009
Exome sequencing identifies the cause of a mendelian disorder
SB Ng, KJ Buckingham, C Lee, AW Bigham, HK Tabor, KM Dent, CD Huff, ...
Nature genetics 42 (1), 30-35, 2010
25732010
The complete genome sequence of a Neanderthal from the Altai Mountains
K Prüfer, F Racimo, N Patterson, F Jay, S Sankararaman, S Sawyer, ...
Nature 505 (7481), 43-49, 2014
24752014
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations
BJ O’Roak, L Vives, S Girirajan, E Karakoc, N Krumm, BP Coe, R Levy, ...
Nature 485 (7397), 246-250, 2012
24512012
Accurate multiplex polony sequencing of an evolved bacterial genome
J Shendure, GJ Porreca, NB Reppas, X Lin, JP McCutcheon, ...
Science 309 (5741), 1728-1732, 2005
22612005
A high-coverage genome sequence from an archaic Denisovan individual
M Meyer, M Kircher, MT Gansauge, H Li, F Racimo, S Mallick, ...
Science 338 (6104), 222-226, 2012
22392012
Exome sequencing as a tool for Mendelian disease gene discovery
MJ Bamshad, SB Ng, AW Bigham, HK Tabor, MJ Emond, DA Nickerson, ...
Nature Reviews Genetics 12 (11), 745-755, 2011
22102011
Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome
SB Ng, AW Bigham, KJ Buckingham, MC Hannibal, MJ McMillin, ...
Nature genetics 42 (9), 790-793, 2010
16652010
Integrative genome analyses identify key somatic driver mutations of small-cell lung cancer
M Peifer, L Fernández-Cuesta, ML Sos, J George, D Seidel, LH Kasper, ...
Nature genetics 44 (10), 1104-1110, 2012
15292012
Target-enrichment strategies for next-generation sequencing
L Mamanova, AJ Coffey, CE Scott, I Kozarewa, EH Turner, A Kumar, ...
Nature methods 7 (2), 111-118, 2010
15052010
Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations
BJ O'Roak, P Deriziotis, C Lee, L Vives, JJ Schwartz, S Girirajan, ...
Nature genetics 43 (6), 585-589, 2011
14552011
Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders
BJ O’Roak, L Vives, W Fu, JD Egertson, IB Stanaway, IG Phelps, G Carvill, ...
Science 338 (6114), 1619-1622, 2012
14442012
Guidelines for investigating causality of sequence variants in human disease
DG MacArthur, TA Manolio, DP Dimmock, HL Rehm, J Shendure, ...
Nature 508 (7497), 469-476, 2014
14392014
Cell-free DNA comprises an in vivo nucleosome footprint that informs its tissues-of-origin
MW Snyder, M Kircher, AJ Hill, RM Daza, J Shendure
Cell 164 (1), 57-68, 2016
14112016
Comprehensive single-cell transcriptional profiling of a multicellular organism
J Cao, JS Packer, V Ramani, DA Cusanovich, C Huynh, R Daza, X Qiu, ...
Science 357 (6352), 661-667, 2017
14032017
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