michael bamshad
michael bamshad
Verified email at u.washington.edu
TitleCited byYear
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, 2010
20562010
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, 2009
20512009
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, 2011
15682011
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
14532012
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
12822005
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, 2010
12202010
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
10372010
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, 2013
7872013
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
7421999
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, 2004
6542004
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, 2004
5752004
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, 1997
5521997
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
5352000
Signatures of natural selection in the human genome
M Bamshad, SP Wooding
Nature Reviews Genetics 4 (2), 99, 2003
5312003
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
5002012
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, 2016
4562016
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
4552001
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, 2015
4362015
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
4002015
Hay–Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63
JA McGrath, PHG Duijf, V Doetsch, AD Irvine, R Waal, KRJ Vanmolkot, ...
Human molecular genetics 10 (3), 221-230, 2001
3882001
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