michael bamshad
michael bamshad
Verified email at u.washington.edu
Title
Cited by
Cited by
Year
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
21752009
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
21452010
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
17162011
Evolution and functional impact of rare coding variation from deep sequencing of human exomes
JA Tennessen, AW Bigham, TD O’Connor, W Fu, EE Kenny, S Gravel, ...
science 337 (6090), 64-69, 2012
15192012
The influence of CCL3L1 gene-containing segmental duplications on HIV-1/AIDS susceptibility
E Gonzalez, H Kulkarni, H Bolivar, A Mangano, R Sanchez, G Catano, ...
Science 307 (5714), 1434-1440, 2005
13162005
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
12952010
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
10782010
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
8492013
Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome
J Celli, P Duijf, BCJ Hamel, M Bamshad, B Kramer, APT Smits, ...
Cell 99 (2), 143-153, 1999
7551999
Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B
ID Krantz, J McCallum, C DeScipio, M Kaur, LA Gillis, D Yaeger, ...
Nature genetics 36 (6), 631-635, 2004
6772004
The Simons genome diversity project: 300 genomes from 142 diverse populations
S Mallick, H Li, M Lipson, I Mathieson, M Gymrek, F Racimo, M Zhao, ...
Nature 538 (7624), 201-206, 2016
5982016
NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome
ET Tonkin, TJ Wang, S Lisgo, MJ Bamshad, T Strachan
Nature genetics 36 (6), 636-641, 2004
5972004
Optimal unified approach for rare-variant association testing with application to small-sample case-control whole-exome sequencing studies
S Lee, MJ Emond, MJ Bamshad, KC Barnes, MJ Rieder, DA Nickerson, ...
The American Journal of Human Genetics 91 (2), 224-237, 2012
5892012
Mutations in human TBX3 alter limb, apocrine and genital development in ulnar-mammary syndrome
M Bamshad, RC Lin, DJ Law, WS Watkins, PA Krakowiak, ME Moore, ...
Nature genetics 16 (3), 311-315, 1997
5651997
Signatures of natural selection in the human genome
M Bamshad, SP Wooding
Nature Reviews Genetics 4 (2), 99-110, 2003
5492003
The distribution of human genetic diversity: a comparison of mitochondrial, autosomal, and Y-chromosome data
LB Jorde, WS Watkins, MJ Bamshad, ME Dixon, CE Ricker, MT Seielstad, ...
The American Journal of Human Genetics 66 (3), 979-988, 2000
5412000
Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction
R Do, NO Stitziel, HH Won, AB Jørgensen, S Duga, PA Merlini, A Kiezun, ...
Nature 518 (7537), 102-106, 2015
4962015
Genetic evidence on the origins of Indian caste populations
M Bamshad, T Kivisild, WS Watkins, ME Dixon, CE Ricker, BB Rao, ...
Genome research 11 (6), 994-1004, 2001
4632001
The genetic basis of Mendelian phenotypes: discoveries, challenges, and opportunities
JX Chong, KJ Buckingham, SN Jhangiani, C Boehm, N Sobreira, ...
The American Journal of Human Genetics 97 (2), 199-215, 2015
4622015
Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2
RJLF Lemmers, R Tawil, LM Petek, J Balog, GJ Block, GWE Santen, ...
Nature genetics 44 (12), 1370, 2012
4202012
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