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The mutational constraint spectrum quantified from variation in 141,456 humans
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N. Gupta,
Thibault Jeandet,
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Christopher Llanwarne,
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David Roazen,
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A. Saltzman,
M. Schleicher,
José Soto,
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Gordon Wade,
M. Talkowski,
B. Neale,
M. Daly,
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2020 |
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Variation across 141,456 human exomes and genomes reveals the spectrum of loss-of-function intolerance across human protein-coding genes
64 auth.
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...
M. Singer-Berk,
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R. Walters,
K. Tashman,
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T. Poterba,
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C. Seed,
N. Whiffin,
Jessica X. Chong,
K. Samocha,
E. Pierce-Hoffman,
Zachary Zappala,
A. O’Donnell-Luria,
E. Minikel,
B. Weisburd,
M. Lek,
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2019 |
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Regional missense constraint improves variant deleteriousness prediction
8 auth.
K. Samocha,
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Exome Aggregation Consortium
161 auth.
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6 |
2016 |
6
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Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes
160 auth.
Qingbo S. Wang,
E. Pierce-Hoffman,
Beryl B. Cummings,
Jessica Alföldi,
L. Francioli,
L. Gauthier,
Andrew J. Hill,
A. O’Donnell-Luria,
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E. Banks,
Louis Bergelson,
K. Cibulskis,
Ryan L. Collins,
K. Connolly,
Miguel Covarrubias,
...
M. Daly,
S. Donnelly,
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Stacey Gabriel,
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Sam Novod,
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T. Poterba,
David Roazen,
Valentín Ruano-Rubio,
A. Saltzman,
K. Samocha,
M. Schleicher,
C. Seed,
M. Solomonson,
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2020 |
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Author Correction: The mutational constraint spectrum quantified from variation in 141,456 humans
65 auth.
K. Karczewski,
L. Francioli,
G. Tiao,
Beryl B. Cummings,
Jessica Alföldi,
Qingbo S. Wang,
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Kristen M. Laricchia,
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Daniel P Birnbaum,
L. Gauthier,
H. Brand,
M. Solomonson,
N. Watts,
Daniel Rhodes,
...
M. Singer-Berk,
E. England,
Eleanor G. Seaby,
J. Kosmicki,
R. Walters,
K. Tashman,
Y. Farjoun,
E. Banks,
T. Poterba,
Arcturus Wang,
C. Seed,
N. Whiffin,
Jessica X. Chong,
K. Samocha,
E. Pierce-Hoffman,
Zachary Zappala,
A. O’Donnell-Luria,
E. Minikel,
B. Weisburd,
M. Lek,
J. Ware,
C. Vittal,
Irina M. Armean,
Louis Bergelson,
K. Cibulskis,
K. Connolly,
Miguel Covarrubias,
S. Donnelly,
S. Ferriera,
S. Gabriel,
Jeff Gentry,
N. Gupta,
Thibault Jeandet,
D. Kaplan,
Christopher Llanwarne,
Ruchi Munshi,
Sam Novod,
Nikelle Petrillo,
David Roazen,
Valentín Ruano-Rubio,
A. Saltzman,
M. Schleicher,
José Soto,
Kathleen M. Tibbetts,
C. Tolonen,
Gordon Wade,
M. Talkowski,
B. Neale,
M. Daly,
D. MacArthur
|
6 |
2021 |
6
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Centers for Mendelian Genomics: A decade of facilitating gene discovery
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5 |
2021 |
5
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🐜
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Addendum: The mutational constraint spectrum quantified from variation in 141,456 humans
66 auth.
Sanna Gudmundsson,
K. Karczewski,
L. Francioli,
G. Tiao,
Beryl B. Cummings,
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A. Ganna,
Daniel P Birnbaum,
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M. Singer-Berk,
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J. Ware,
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K. Cibulskis,
K. Connolly,
Miguel Covarrubias,
S. Donnelly,
S. Ferriera,
S. Gabriel,
Jeff Gentry,
N. Gupta,
Thibault Jeandet,
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Christopher Llanwarne,
Ruchi Munshi,
Sam Novod,
Nikelle Petrillo,
David Roazen,
Valentín Ruano-Rubio,
A. Saltzman,
M. Schleicher,
José Soto,
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M. Talkowski,
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D. MacArthur
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5 |
2021 |
5
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Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death
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Roshan Shamon,
Isabella Sherburn,
J. Slee,
A. Solinas,
E. Sugo,
E. Thompson,
S. Tripathy,
Anand Vasudevan,
M. Vazquez,
K. Verma,
Mthulisi Viki,
M. Wallis,
D. L. Webber,
M. Weber,
K. Whale,
Meredith Wilson,
L. Worgan,
Sui Yu,
G. McGillivray,
J. Pinner,
F. McKenzie,
R. Morrow,
T. Y. Khong,
L. Moore,
J. Liebelt,
A. Schreiber,
Sarah L. King-Smith,
T. Hardy,
Matilda R Jackson,
Christopher Barnett,
H. Scott
|
4 |
2023 |
4
🐜
|
|
🐜
|
Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies.
45 auth.
Chelsea Lowther,
E. Valkanas,
J. Giordano,
Harold Wang,
Benjamin Currall,
Kathryn O’Keefe,
E. Pierce-Hoffman,
N. Kurtas,
Christopher W. Whelan,
Stephanie P Hao,
B. Weisburd,
V. Jalili,
Jack M. Fu,
Isaac Wong,
Ryan L. Collins,
...
Xuefang Zhao,
C. Austin-Tse,
Emily Evangelista,
G. Lemire,
V. Aggarwal,
D. Lucente,
L. Gauthier,
C. Tolonen,
N. Sahakian,
C. Stevens,
Joon-Yong An,
Shan Dong,
M. Norton,
T. Mackenzie,
B. Devlin,
K. Gilmore,
B. Powell,
A. Brandt,
Francesco Vetrini,
M. Divito,
Stephan J Sanders,
D. MacArthur,
Jennelle C Hodge,
A. O’Donnell-Luria,
H. Rehm,
N. Vora,
B. Levy,
H. Brand,
R. Wapner,
M. Talkowski
|
4 |
2023 |
4
🐜
|
|
🐜
|
De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis.
67 auth.
P. Weng,
Amar J. Majmundar,
Kamal Khan,
T. Lim,
S. Shril,
G. Jin,
J. Musgrove,
Minxian Wang,
D. Ahram,
V. Aggarwal,
Louise E Bier,
E. Heinzen,
Ana C. Onuchic-Whitford,
Nina Mann,
Florian Buerger,
...
Ronen Schneider,
Konstantin Deutsch,
Thomas M. Kitzler,
Verena Klämbt,
Amy Kolb,
Youying Mao,
Christelle Moufawad El Achkar,
A. Mitrotti,
Jeremiah Martino,
B. Beck,
J. Altmüller,
M. Benz,
S. Yano,
M. Mikati,
Talha Gunduz,
H. Cope,
V. Shashi,
H. Trachtman,
M. Bodria,
G. Caridi,
I. Pisani,
E. Fiaccadori,
Asmaa S. AbuMaziad,
J. Martinez-Agosto,
O. Yadin,
J. Zuckerman,
Arang Kim,
Ulrike John-Kroegel,
A. Tyndall,
J. Parboosingh,
A. Innes,
A. Bierzynska,
A. Koziell,
M. Muorah,
M. Saleem,
J. Hoefele,
K. Riedhammer,
A. Gharavi,
V. Jobanputra,
E. Pierce-Hoffman,
E. G. Seaby,
A. O’Donnell-Luria,
H. Rehm,
S. Mane,
V. D’Agati,
M. Pollak,
G. Ghiggeri,
R. Lifton,
D. Goldstein,
E. Davis,
F. Hildebrandt,
S. Sanna-Cherchi
|
4 |
2021 |
4
🐜
|
|
🐜
|
Genome‐Wide Analysis of Structural Variants in Parkinson Disease
40 auth.
Kimberley J. Billingsley,
Jinhui Ding,
Pilar Álvarez Jerez,
A. Illarionova,
K. Levine,
F. P. Grenn,
Mary B Makarious,
A. Moore,
Dan Vitale,
X. Reed,
D. Hernandez,
A. Torkamani,
M. Ryten,
J. Hardy,
Ruth Chia,
...
Sonja W. Scholz,
B. Traynor,
C. Dalgard,
D. Ehrlich,
Toshiko Tanaka,
L. Ferrucci,
T. Beach,
G. Serrano,
J. Quinn,
V. Bubb,
Ryan L. Collins,
Xuefang Zhao,
Mark Walker,
E. Pierce-Hoffman,
H. Brand,
M. Talkowski,
Bradford Casey,
M. Cookson,
A. Markham,
M. Nalls,
M. Mahmoud,
F. Sedlazeck,
C. Blauwendraat,
J. R. Gibbs,
A. Singleton
|
4 |
2023 |
4
🐜
|
|
🐜
|
ASC‐1 Is a Cell Cycle Regulator Associated with Severe and Mild Forms of Myopathy
23 auth.
R. Villar-Quiles,
F. Catervi,
E. Cabet,
R. Juntas-Morales,
C. Genetti,
T. Gidaro,
A. Koparir,
A. Yüksel,
S. Coppens,
N. Deconinck,
...
E. Pierce-Hoffman,
X. Lornage,
J. Durigneux,
J. Laporte,
J. Rendu,
N. Romero,
A. Beggs,
L. Servais,
M. Cossée,
M. Olivé,
J. Böhm,
I. Duband-Goulet,
A. Ferreiro
|
3 |
2019 |
3
🐜
|
