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michael bamshad
michael bamshad
Geverifieerd e-mailadres voor u.washington.edu
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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
26222009
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
25122010
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
21442011
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
18772012
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
16042010
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
14432005
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
13822016
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
12872010
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
10882013
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
10572012
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
8551999
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
8222004
Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction
R Do, NO Stitziel, HH Won, AB Jørgensen, S Duga, P Angelica Merlini, ...
Nature 518 (7537), 102-106, 2015
7562015
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
7352015
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
7092004
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
6531997
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), 1370-1374, 2012
6412012
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
6342000
Signatures of natural selection in the human genome
M Bamshad, SP Wooding
Nature Reviews Genetics 4 (2), 99-110, 2003
5952003
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
5262001
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Artikelen 1–20