|
π’
|
Exome sequencing identifies the cause of a Mendelian disorder
12 auth.
Sarah B. H. Ng,
K. Buckingham,
Choli Lee,
A. Bigham,
H. Tabor,
K. Dent,
...
C. Huff,
P. Shannon,
E. Jabs,
D. Nickerson,
J. Shendure,
M. Bamshad
|
11 |
2009 |
11
π’
|
|
π¦
|
Exome sequencing as a tool for Mendelian disease gene discovery
7 auth.
M. Bamshad,
Sarah B. H. Ng,
A. Bigham,
H. Tabor,
M. Emond,
D. Nickerson,
...
J. Shendure
|
10 |
2011 |
10
π¦
|
|
π
|
Evolution and Functional Impact of Rare Coding Variation from Deep Sequencing of Human Exomes
23 auth.
Jacob A. Tennessen,
A. Bigham,
T. OβConnor,
Wenqing Fu,
E. Kenny,
S. Gravel,
Sean R Mcgee,
R. Do,
Xiaomin Liu,
G. Jun,
...
H. Kang,
D. Jordan,
S. Leal,
S. Gabriel,
M. Rieder,
G. Abecasis,
D. Altshuler,
D. Nickerson,
E. Boerwinkle,
S. Sunyaev,
C. Bustamante,
M. Bamshad,
J. Akey
|
10 |
2012 |
10
π
|
|
π
|
Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome
21 auth.
Sarah B. H. Ng,
A. Bigham,
K. Buckingham,
M. Hannibal,
M. McMillin,
Heidi Gildersleeve,
A. Beck,
H. Tabor,
G. Cooper,
H. Mefford,
...
Choli Lee,
Emily H. Turner,
Joshua D. Smith,
M. Rieder,
K. Yoshiura,
N. Matsumoto,
T. Ohta,
N. Niikawa,
D. Nickerson,
M. Bamshad,
J. Shendure
|
10 |
2010 |
10
π
|
|
π
|
The Simons Genome Diversity Project: 300 genomes from 142 diverse populations
79 auth.
Swapan Mallick,
Heng Li,
Mark Lipson,
I. Mathieson,
M. Gymrek,
F. Racimo,
Mengyao Zhao,
Niru Chennagiri,
Susanne Nordenfelt,
Arti Tandon,
P. Skoglund,
Iosif Lazaridis,
S. Sankararaman,
Qiaomei Fu,
N. Rohland,
...
Gabriel Renaud,
Yaniv Erlich,
Thomas Willems,
C. Gallo,
J. Spence,
Yun S. Song,
G. Poletti,
F. Balloux,
G. Driem,
P. Knijff,
Irene Gallego Romero,
A. Jha,
D. Behar,
C. Bravi,
C. Capelli,
T. Hervig,
A. Moreno-Estrada,
O. Posukh,
E. Balanovska,
O. Balanovsky,
Sena Karachanak-Yankova,
Hovhannes Sahakyan,
D. Toncheva,
L. Yepiskoposyan,
C. Tyler-Smith,
Yali Xue,
M. S. Abdullah,
A. Ruiz-Linares,
C. Beall,
A. Rienzo,
Choongwon Jeong,
E. Starikovskaya,
E. Metspalu,
J. Parik,
R. Villems,
B. Henn,
U. HodogΜlugil,
R. Mahley,
A. Sajantila,
G. Stamatoyannopoulos,
Joseph T. S. Wee,
R. Khusainova,
E. Khusnutdinova,
S. Litvinov,
G. Ayodo,
D. Comas,
M. Hammer,
T. Kivisild,
W. Klitz,
C. Winkler,
D. Labuda,
M. Bamshad,
L. Jorde,
S. Tishkoff,
W. Watkins,
M. Metspalu,
S. Dryomov,
R. Sukernik,
L. Singh,
K. Thangaraj,
S. PÀÀbo,
J. Kelso,
N. Patterson,
D. Reich
|
10 |
2016 |
10
π
|
|
π
|
The Influence of CCL3L1 Gene-Containing Segmental Duplications on HIV-1/AIDS Susceptibility
22 auth.
E. GonzΓ‘lez,
Hemant Kulkarni,
H. Bolivar,
A. Mangano,
R. Sanchez,
G. Catano,
R. Nibbs,
B. Freedman,
Marlon P. Quinones,
M. Bamshad,
...
K. Murthy,
B. Rovin,
W. Bradley,
R. Clark,
S. Anderson,
R. OβConnell,
B. Agan,
S. Ahuja,
R. Bologna,
L. Sen,
M. Dolan,
S. Ahuja
|
10 |
2005 |
10
π
|
|
π
|
Optimal unified approach for rare-variant association testing with application to small-sample case-control whole-exome sequencing studies.
9 auth.
Seunggeun Lee,
M. Emond,
M. Bamshad,
K. Barnes,
M. Rieder,
D. Nickerson,
...
D. Christiani,
M. Wurfel,
Xihong Lin
|
9 |
2012 |
9
π
|
|
π
|
Analysis of 6,515 exomes reveals a recent origin of most human protein-coding variants
14 auth.
Wenqing Fu,
T. OβConnor,
G. Jun,
H. Kang,
G. Abecasis,
S. Leal,
S. Gabriel,
D. Altshuler,
J. Shendure,
D. Nickerson,
...
M. Bamshad,
Broad Go,
Seattle Go,
J. Akey
|
9 |
2013 |
9
π
|
|
π
|
Heterozygous Germline Mutations in the p53 Homolog p63 Are the Cause of EEC Syndrome
19 auth.
J. Celli,
Pascal H. G. Duijf,
B. Hamel,
M. Bamshad,
B. Kramer,
A. Smits,
R. Newbury-Ecob,
R. Hennekam,
G. Buggenhout,
A. Haeringen,
...
C. Woods,
A. Essen,
R. Waal,
G. Vriend,
D. Haber,
A. Yang,
F. McKeon,
H. Brunner,
H. Bokhoven
|
9 |
1999 |
9
π
|
|
π
|
Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B
21 auth.
I. Krantz,
Jennifer McCallum,
Cheryl Descipio,
M. Kaur,
L. Gillis,
Dinah Yaeger,
L. Jukofsky,
N. Wasserman,
A. Bottani,
C. Morris,
...
MaΕgorzata J. M. Nowaczyk,
H. Toriello,
M. Bamshad,
J. Carey,
E. Rappaport,
S. Kawauchi,
A. Lander,
A. Calof,
Hui-hua Li,
M. Devoto,
Laird G. Jackson
|
9 |
2004 |
9
π
|
|
π
|
Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B
21 auth.
I. Krantz,
Jennifer McCallum,
Cheryl Descipio,
M. Kaur,
L. Gillis,
Dinah Yaeger,
L. Jukofsky,
N. Wasserman,
A. Bottani,
C. Morris,
...
MaΕgorzata J. M. Nowaczyk,
H. Toriello,
M. Bamshad,
J. Carey,
E. Rappaport,
S. Kawauchi,
A. Lander,
A. Calof,
Hui-hua Li,
M. Devoto,
Laird G. Jackson
|
9 |
2004 |
9
π
|
|
π¬
|
NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome
E. Tonkin,
Tzu-Jou Wang,
S. Lisgo,
M. Bamshad,
T. Strachan
|
9 |
2004 |
9
π¬
|
|
π
|
Targeted Capture and Massively Parallel Sequencing of Twelve Human Exomes
13 auth.
Sarah B. H. Ng,
Emily H. Turner,
P. Robertson,
Steven Flygare,
A. Bigham,
Choli Lee,
T. Shaffer,
Michelle Wong,
A. Bhattacharjee,
E. Eichler,
...
M. Bamshad,
D. Nickerson,
J. Shendure
|
9 |
2016 |
9
π
|
