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
55562008
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
44532014
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
23292009
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
22752010
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
20402012
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
19092005
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
18672011
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
18002014
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
17992014
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
17292012
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
13912010
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
12672011
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
12332019
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
12172010
Analysis of genetic inheritance in a family quartet by whole-genome sequencing
JC Roach, G Glusman, AFA Smit, CD Huff, R Hubley, PT Shannon, ...
Science 328 (5978), 636-639, 2010
11572010
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
11542014
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
11512012
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
11052012
A three-dimensional model of the yeast genome
Z Duan, M Andronescu, K Schutz, S McIlwain, YJ Kim, C Lee, J Shendure, ...
Nature 465 (7296), 363-367, 2010
9792010
Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants
W Fu, TD O’connor, G Jun, HM Kang, G Abecasis, SM Leal, S Gabriel, ...
Nature 493 (7431), 216-220, 2013
9472013
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