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π
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An integrated map of genetic variation from 1,092 human genomes
483 auth.
Gil A. McVean,
David M. Altshuler (Co-Chair),
Richard M. Durbin (Co-Chair),
Gonçalo R. Abecasis,
D. Bentley,
A. Chakravarti,
A. Clark,
P. Donnelly,
Evan E. Eichler,
Paul Flicek,
S. Gabriel,
Richard A. Gibbs,
E. Green,
M. Hurles,
B. Knoppers,
...
J. Korbel,
E. Lander,
Charles Lee,
H. Lehrach,
E. Mardis,
Gabor T. Marth,
Gil A. McVean,
D. Nickerson,
Jeanette Schmidt,
S. Sherry,
Jun Wang,
R. Wilson,
Richard A. Gibbs (Principal Investigator),
H. Dinh,
C. Kovar,
Sandy Lee,
L. Lewis,
D. Muzny,
Jeff G. Reid,
Min Wang,
Jun Wang (Principal Investigator),
X. Fang,
Xiaosen Guo,
Min Jian,
Hui Jiang,
Xin Jin,
Guoqing Li,
Jingxiang Li,
Yingrui Li,
Zhuo Li,
Xiao Liu,
Yao Lu,
Xuedi Ma,
Zheng Su,
S. Tai,
M. Tang,
Bo Wang,
Guangbiao Wang,
Honglong Wu,
Renhua Wu,
Ye Yin,
Wenwei Zhang,
Jiao Zhao,
Meiru Zhao,
Xiaole Zheng,
Yan Zhou,
Eric S. Lander (Principal Investigator),
D. Altshuler,
Stacey B. Gabriel (Co-Chair),
N. Gupta,
Paul Flicek (Principal Investigator),
Laura Clarke,
R. Leinonen,
Richard E. Smith,
Xiangqun Zheng-Bradley,
David R. Bentley (Principal Investigator),
R. Grocock,
S. Humphray,
Terena James,
Z. Kingsbury,
Hans Lehrach (Principal Investigator),
Ralf Sudbrak (Project Leader),
Marcus W. Albrecht,
V. Amstislavskiy,
T. Borodina,
M. Lienhard,
F. Mertes,
M. Sultan,
B. Timmermann,
M. Yaspo,
Stephen T. Sherry (Principal Investigator),
Gil A. McVean (Principal Investigator),
Elaine R. Mardis (Co-Principal Investigator) (Co-Chair),
Richard K. Wilson (Co-Principal Investigator),
L. Fulton,
R. Fulton,
G. Weinstock,
Richard M. Durbin (Principal Investigator),
Senduran Balasubramaniam,
J. Burton,
P. Danecek,
Thomas M. Keane,
Anja Kolb-Kokocinski,
Shane A. McCarthy,
J. Stalker,
Michael A. Quail,
Jeanette P. Schmidt (Principal Investigator),
C. J. Davies,
J. Gollub,
Teresa A. Webster,
Brant Wong,
Yiping Zhan,
Adam Auton (Principal Investigator),
Fuli Yu (Project Leader),
M. Bainbridge,
Danny Challis,
U. S. Evani,
James T. Lu,
U. Nagaswamy,
A. Sabo,
Jin Yu,
L. Coin,
L. Fang,
Qibin Li,
Zhenyu Li,
Haoxiang Lin,
Binghang Liu,
Ruibang Luo,
Nan Qin,
Haojing Shao,
Yinlong Xie,
C. Ye,
Chang Yu,
Fan Zhang,
Hancheng Zheng,
Hongmei Zhu,
Gabor T. Marth (Principal Investigator),
Erik P. Garrison,
Deniz Kural,
Wan-Ping Lee,
Wen Fung Leong,
Alistair N. Ward,
Jiantao Wu,
Mengyao Zhang,
Charles Lee (Principal Investigator),
Lauren Griffin,
Chih-heng Hsieh,
Ryan E. Mills,
Xinghua Shi,
Marcin von Grotthuss,
Chengsheng Zhang,
Mark J. Daly (Principal Investigator),
Mark A. DePristo (Project Leader),
E. Banks,
G. Bhatia,
Mauricio O. Carneiro,
G. Del Angel,
G. Genovese,
R. Handsaker,
C. Hartl,
S. Mccarroll,
J. Nemesh,
R. Poplin,
S. Schaffner,
Khalid Shakir,
Seungtai C. Jayon Vladimir Yoon (Principal Investigator) Lihm Makarov,
Seungtai C. Yoon (Principal Investigator),
Jayon Lihm,
Vladimir Makarov,
Hanjun Wook Ki Jin (Principal Investigator) Kim Cheol Kim,
Hanjun Jin (Principal Investigator),
Wook Kim,
Ki Cheol Kim,
Jan O. Tobias Korbel (Principal Investigator) Rausch,
Jan O. Korbel (Principal Investigator),
T. Rausch,
Kathryn M Beal,
Fiona Cunningham,
Javier Herrero,
W. McLaren,
G. Ritchie,
Andrew G. Clark (Principal Investigator),
S. Gottipati,
A. Keinan,
Juan L. Rodriguez-Flores,
Pardis C. Sabeti (Principal Investigator),
S. Grossman,
S. Tabrizi,
Ridhi Tariyal,
David N. Edward V. Peter D. Cooper (Principal Investigator) Ball Stenson,
David N. Cooper (Principal Investigator),
E. Ball,
P. Stenson,
B. Barnes,
Markus Bauer,
R. Keira Cheetham,
Tony Cox,
M. Eberle,
Scott D. Kahn,
L. Murray,
J. Peden,
Richard Shaw,
Kai Ye (Principal Investigator),
Mark A. Miriam K. Jerilyn A. Batzer (Principal Investigator) Konkel Walker,
Mark A. Batzer (Principal Investigator),
Miriam K. Konkel,
Jerilyn A. Walker,
Daniel G. Monkol MacArthur (Principal Investigator) Lek,
Daniel G. MacArthur (Principal Investigator),
M. Lek,
Vyacheslav S. Ralf Sudbrak (Project Leader) Amstislavskiy Herwig,
Sudbrak (Project Leader),
R. Herwig,
Mark D. Shriver (Principal Investigator),
Carlos D. Bustamante (Principal Investigator),
Jake K. Byrnes,
Francisco M. De La Vega,
S. Gravel,
E. Kenny,
J. Kidd,
P. Lacroute,
B. K. Maples,
A. Moreno-Estrada,
Fouad Zakharia,
Eran Yael Halperin (Principal Investigator) Baran,
Eran Halperin (Principal Investigator),
Yael Baran,
David W. Craig (Principal Investigator),
Alexis Christoforides,
Nils Homer,
Tyler Izatt,
Ahmet A. Kurdoglu,
Shripad A. Sinari,
Kevin Squire,
Stephen T. Chunlin Sherry (Principal Investigator) Xiao,
Chunlin Xiao,
Jonathan Vineet Kenny Sebat (Principal Investigator) Bafna Ye,
Jonathan Sebat (Principal Investigator),
V. Bafna,
Kenny Q. Ye,
Esteban G. Burchard (Principal Investigator),
Ryan D. Hernandez (Principal Investigator),
Christopher R. Gignoux,
David Haussler (Principal Investigator),
Sol Katzman,
W. James Kent,
Bryan N. Howie,
Andres Ruiz-Linares (Principal Investigator),
Emmanouil T. Tuuli Dermitzakis (Principal Investigator) Lappalainen,
Emmanouil T. Dermitzakis (Principal Investigator),
T. Lappalainen,
Scott E. Xinyue Ankit Luke J. Devine (Principal Investigator) Liu Maroo Tallon,
Scott E. Devine (Principal Investigator),
Xinyue Liu,
A. Maroo,
L. Tallon,
Jeffrey A. Leslie P. Rosenfeld (Principal Investigator) Michelson,
Jeffrey A. Rosenfeld (Principal Investigator),
L. P. Michelson,
Gonçalo R. Abecasis (Principal Investigator) (Co-Chair),
Hyun Min Kang (Project Leader),
Paul Anderson,
A. Angius,
A. Bigham,
T. Blackwell,
F. Busonero,
F. Cucca,
C. Fuchsberger,
Chris Jones,
G. Jun,
Yun Li,
R. Lyons,
A. Maschio,
E. Porcu,
F. Reinier,
S. Sanna,
D. Schlessinger,
C. Sidore,
Adrian Tan,
Mary Kate Trost,
Philip Alan Awadalla (Principal Investigator) Hodgkinson,
Philip Awadalla (Principal Investigator),
A. Hodgkinson,
Gerton Lunter (Principal Investigator),
Gil A. McVean (Principal Investigator) (Co-Chair),
Jonathan L. Marchini (Principal Investigator),
Simon Myers (Principal Investigator),
C. Churchhouse,
Olivier Delaneau,
Anjali Gupta-Hinch,
Z. Iqbal,
I. Mathieson,
A. Rimmer,
Dionysia K. Xifara,
Taras K. Oleksyk (Principal Investigator),
Yunxin Xiaoming Momiao Fu (Principal Investigator) Liu Xiong,
Yunxin Fu (Principal Investigator),
Xiaoming Liu,
Momiao Xiong,
Lynn David Jinchuan Jorde (Principal Investigator) Witherspoon Xing,
Lynn Jorde (Principal Investigator),
D. Witherspoon,
Jinchuan Xing,
Evan E. Eichler (Principal Investigator),
Brian L. Browning (Principal Investigator),
C. Alkan,
Iman Hajirasouliha,
F. Hormozdiari,
Arthur Ko,
Peter H. Sudmant,
Elaine R. Mardis (Co-Principal Investigator),
Ken Chen,
A. Chinwalla,
L. Ding,
D. Dooling,
D. Koboldt,
M. McLellan,
J. Wallis,
M. Wendl,
Qunyuan Zhang,
Matthew E. Hurles (Principal Investigator),
Chris Tyler-Smith (Principal Investigator),
C. A. Albers,
Q. Ayub,
Yuan Chen,
A. Coffey,
V. Colonna,
N. Huang,
L. Jostins,
Heng Li,
A. Scally,
Klaudia Walter,
Yali Xue,
Yujun Zhang,
Mark B. Gerstein (Principal Investigator),
A. Abyzov,
S. Balasubramanian,
Jieming Chen,
Declan Clarke,
Yao Fu,
L. Habegger,
A. Harmanci,
Mike Jin,
Ekta Khurana,
Xinmeng Jasmine Mu,
Cristina Sisu,
Yingrui Ruibang Hongmei Li Luo Zhu,
Charles Lee (Principal Investigator) (Co-Chair),
Steven A. McCarroll (Project Leader),
Jeremiah D. Degenhardt,
Jan O. Korbel (Principal Investigator) (Co-Chair),
A. StΓΌtz,
David W. Nils Craig (Principal Investigator) Homer,
Deanna Chunlin Church Xiao,
D. Church,
Jonathan Vineet Jacob J. Kenny Sebat (Principal Investigator) Bafna Michaelson Ye,
J. Michaelson,
David Jinchuan Witherspoon Xing,
Evan E. Eichler (Principal Investigator) (Co-Chair),
Ken Asif Li Michael D. John W. Chen Chinwalla Ding McLellan Wallis,
Matthew E. Hurles (Principal Investigator) (Co-Chair),
Benjamin P. Blackburne,
S. Lindsay,
Z. Ning,
Mark B. Gerstein (Principal Investigator),
Richard A. Gibbs (Principal Investigator) (Co-Chair),
Xiaosen Yingrui Renhua Guo Li Wu,
Gabor T. Marth (Principal Investigator) (Co-Chair),
Guillermo Mark A. Stacey B. Namrata Chris Ryan E. del Angel DePristo Gabriel Gupta Hartl Poplin,
M. DePristo,
Andrew G. Juan L. Clark (Principal Investigator) Rodriguez-Flores,
Carlos D. Simon Bustamante (Principal Investigator) Gravel,
Gonçalo R. Hyun Abecasis (Principal Investigator) Min Kang,
Gonçalo R. Abecasis (Principal Investigator),
Hyun Min Kang,
Elaine R. Mardis (Principal Investigator),
F. Yu,
Guillermo Robert E. del Angel Handsaker,
Carlos D. Francisco M. Bustamante (Principal Investigator) De La Vega,
David W. Ahmet A. Craig (Principal Investigator) Kurdoglu,
Chris Tyler-Smith (Principal Investigator) (Co-Chair),
A. Frankish,
J. Harrow,
Mark B. Gerstein (Principal Investigator) (Co-Chair),
G. Fowler,
Walker Hale,
D. Kalra,
Jun Xiaosen Guoqing Yingrui Xiaole Wang (Principal Investigator) Guo Li Li Zheng,
Paul Flicek (Principal Investigator) (Co-Chair),
Laura Clarke (Project Leader),
Jonathan A. Barker,
G. Kelman,
Eugene Kulesha,
Rajesh Radhakrishnan,
Asier Roa,
Dmitriy Smirnov,
Ian Streeter,
I. Toneva,
Brendan W. Vaughan,
David R. Tony Sean Scott Bentley (Principal Investigator) Cox Humphray Kahn,
Ralf Marcus W. Matthias Sudbrak (Project Leader) Albrecht Lienhard,
David W. Tyler Ahmet A. Craig (Principal Investigator) Izatt Kurdoglu,
Stephen T. Sherry (Principal Investigator) (Co-Chair),
Victor Ananiev,
Zinaida Belaia,
Dimitriy Beloslyudtsev,
Nathan Bouk,
Chao Chen,
Robert Cohen,
Charles Cook,
John Garner,
T. Hefferon,
M. Kimelman,
Chunlei Liu,
John Lopez,
Peter A. Meric,
Christa O'Sullivan,
Yu. G. Ostapchuk,
Lon Phan,
Sergiy Ponomarov,
Valerie A. Schneider,
Eugene M. Shekhtman,
K. Sirotkin,
D. Slotta,
Hua Zhang,
Can Arthur Alkan Ko,
Aravinda Chakravarti (Co-Chair),
Bartha M. Knoppers (Co-Chair),
Gonçalo R. Abecasis,
K. Barnes,
C. Beiswanger,
E. Burchard,
C. Bustamante,
Hongyu Cai,
H. Cao,
R. Durbin,
N. Gharani,
Richard A. Gibbs,
B. Henn,
Danielle A. Jones,
L. Jorde,
J. Kaye,
A. Kent,
A. Kerasidou,
R. Mathias,
P. Ossorio,
M. Parker,
D. Reich,
C. Rotimi,
C. Royal,
Karla Sandoval,
Yeyang Su,
R. Sudbrak,
Zhongming Tian,
S. Tishkoff,
L. Toji,
C. Tyler-Smith,
M. Via,
H. Yang,
Ling Yang,
Jia Zhu,
Walter Bodmer,
Gabriel Andres Bedoya Ruiz-Linares,
G. Bedoya,
A. Ruiz-Linares,
Cai Gao Chu Zhi Ming Yang Jia You,
Cai Zhi Ming,
Gao Yang,
Chu Jia You,
L. Peltonen,
Andres Alberto Garcia-Montero Orfao,
A. GarcΓa-Montero,
A. ΓrfΓ£o,
Julie Juan C. Taras K. Dutil Martinez-Cruzado Oleksyk,
J. Dutil,
J. MartΓnez-Cruzado,
Taras K. Oleksyk,
L. Brooks,
A. Felsenfeld,
J. Mcewen,
Nicholas C. Clemm,
A. Duncanson,
Michael Dunn,
M. Guyer,
Jane L. Peterson,
Gonçalo R. Abecasis,
A. Auton,
Gabor T. Marth
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12 |
2012 |
12
π
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Supplementary webappendix
37 auth.
Philippe M. Campeau,
Dalia KasperaviΔiΕ«tΔ,
James T. Lu,
Lindsay C Burrage,
M. Hori,
Berkley R Powell,
Fiona Stewart,
TΓͺmis Maria,
FΓ©lix,
S. Nampoothiri,
Salim Aftimos,
A. Mey,
L. D. Nair,
Michael,
L. Begleiter,
...
I. D. Bie,
G. Meenakshi,
Mitzi L. Murray,
G. Repetto,
Mahin Golabi,
Edward Blair,
Alison M. Male,
Fabienne Giuliano,
Ariana,
Kariminejad,
William G. Newman,
S. Bhaskar,
Jonathan E. Dickerson,
S. Banka,
J. Giltay,
Dagmar Wieczorek,
Anna,
Tostevin,
Joanna Wiszniewska,
Sau Wai Cheung,
R.C.M. Hennekam,
R. A. Gibbs
|
11 |
2013 |
11
π
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WNT1 mutations in early-onset osteoporosis and osteogenesis imperfecta.
23 auth.
C. Laine,
K. Joeng,
Philippe M. Campeau,
R. Kiviranta,
Kati M. Tarkkonen,
M. Grover,
James T. Lu,
M. Pekkinen,
M. Wessman,
T. Heino,
...
Vappu Nieminen-Pihala,
Mira Aronen,
T. Laine,
H. KrΓΆger,
W. Cole,
A. Lehesjoki,
Lisette Nevarez,
D. Krakow,
C. Curry,
D. Cohn,
R. Gibbs,
Brendan H. Lee,
O. MΓ€kitie
|
8 |
2013 |
8
π
|
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The genetic basis of DOORS syndrome: an exome-sequencing study
41 auth.
Philippe M. Campeau,
Dalia KasperaviΔiΕ«tΔ,
James T. Lu,
L. Burrage,
Choel Kim,
M. Hori,
B. Powell,
F. Stewart,
T. FΓ©lix,
J. van den Ende,
M. WiΕniewska,
H. Kayserili,
P. Rump,
S. Nampoothiri,
S. Aftimos,
...
A. Mey,
L. D. Nair,
M. Begleiter,
I. De Bie,
G. Meenakshi,
Mitzi L. Murray,
G. Repetto,
M. Golabi,
E. Blair,
Alison M. Male,
F. Giuliano,
A. Kariminejad,
W. Newman,
S. Bhaskar,
Jonathan E. Dickerson,
B. Kerr,
S. Banka,
J. Giltay,
D. Wieczorek,
A. Tostevin,
Joanna Wiszniewska,
S. Cheung,
R. Hennekam,
R. Gibbs,
Brendan H. Lee,
S. Sisodiya
|
7 |
2014 |
7
π
|
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A recurrent PDGFRB mutation causes familial infantile myofibromatosis.
25 auth.
Y. Cheung,
T. Gayden,
Philippe M. Campeau,
C. Leduc,
D. Russo,
V. Nguyen,
Jiancheng Guo,
M. Qi,
Y. Guan,
S. Albrecht,
B. Moroz,
K. Eldin,
James T. Lu,
J. Schwartzentruber,
D. Malkin,
...
A. Berghuis,
S. Emil,
R. Gibbs,
D. Burk,
Megan R. Vanstone,
Brendan H. Lee,
D. Orchard,
K. Boycott,
W. Chung,
N. Jabado
|
7 |
2013 |
7
π
|
|
π
|
Yunis-VarΓ³n syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase.
16 auth.
Philippe M. Campeau,
Guy M. Lenk,
James T. Lu,
Yangjin Bae,
L. Burrage,
P. Turnpenny,
J. RomΓ‘n Corona-Rivera,
L. Morandi,
M. Mora,
H. Reutter,
...
A. V. Vulto-van Silfhout,
L. Faivre,
E. Haan,
R. Gibbs,
M. Meisler,
Brendan H. Lee
|
7 |
2013 |
7
π
|
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Mutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndrome.
21 auth.
Philippe M. Campeau,
Jaeseung C Kim,
James T. Lu,
J. Schwartzentruber,
O. Abdul-Rahman,
S. Schlaubitz,
David Murdock,
M. Jiang,
E. Lammer,
G. Enns,
...
W. Rhead,
J. Rowland,
S. Robertson,
V. Cormier-Daire,
M. Bainbridge,
Xiang-Jiao Yang,
M. Gingras,
R. Gibbs,
D. Rosenblatt,
J. Majewski,
Brendan H. Lee
|
7 |
2012 |
7
π
|
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π¦
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Genotype-Phenotype Correlation
James T. Lu,
Philippe M. Campeau,
Brendan H. Lee
|
6 |
2014 |
6
π¦
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|
π
|
Whole-exome sequencing identifies mutations in the nucleoside transporter gene SLC29A3 in dysosteosclerosis, a form of osteopetrosis.
12 auth.
Philippe M. Campeau,
James T. Lu,
G. Sule,
M. Jiang,
Yangjin Bae,
Simran Madan,
...
W. HΓΆgler,
N. Shaw,
S. Mumm,
R. Gibbs,
M. Whyte,
Brendan H. Lee
|
6 |
2012 |
6
π
|
|
π
|
The KAT6Bβrelated disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms
7 auth.
Philippe M. Campeau,
James T. Lu,
B. Dawson,
I. Fokkema,
S. Robertson,
R. Gibbs,
...
Brendan H. Lee
|
6 |
2012 |
6
π
|
|
π
|
Phenotypic Variability of Osteogenesis Imperfecta Type V Caused by an IFITM5 Mutation
17 auth.
J. Shapiro,
Caressa D Lietman,
M. Grover,
James T. Lu,
S. Nagamani,
B. Dawson,
Dustin Baldridge,
M. Bainbridge,
D. Cohn,
Maria A. Blazo,
...
T. Roberts,
Feng-Shu Brennen,
Yimei Wu,
R. Gibbs,
P. Melvin,
Philippe M. Campeau,
Brendan H. Lee
|
6 |
2013 |
6
π
|
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π¦
|
Genotype-phenotype correlation--promiscuity in the era of next-generation sequencing.
James T. Lu,
Philippe M. Campeau,
Brendan H. Lee
|
6 |
2014 |
6
π¦
|
|
π
|
Loss of DDRGK1 modulates SOX9 ubiquitination in spondyloepimetaphyseal dysplasia
17 auth.
A. T. Egunsola,
Yangjin Bae,
M. Jiang,
David S. Liu,
Yuqing Chen-Evenson,
T. Bertin,
Shan Chen,
James T. Lu,
Lisette Nevarez,
N. Magal,
...
A. RaasβRothschild,
E. Swindell,
D. Cohn,
R. Gibbs,
Philippe M. Campeau,
M. Shohat,
Brendan H. Lee
|
5 |
2017 |
5
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