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Ancestry-specific predisposing germline variants in cancer
51 auth.
Ninad Oak,
A. Cherniack,
R. J. Mashl,
Jian Carrot-Zhang,
N. Chambwe,
J. Damrauer,
T. Knijnenburg,
A. G. Robertson,
C. Yau,
Wanding Zhou,
Ashton C. Berger,
Kuan-lin Huang,
R. J. Mashl,
J. Newberg,
A. Romanel,
...
R. Sayaman,
Francesca Demichelis,
Ina Felau,
Garret M. Frampton,
Seunghun Han,
K. Hoadley,
Anab Kemal,
Peter W. Laird,
A. Lazar,
Xiuning Le,
Ninad Oak,
Hui Shen,
Christopher K. Wong,
J. Zenklusen,
E. Ziv,
F. Aguet,
Li Ding,
John A. Demchok,
Michael K. A. Mensah,
R. Tarnuzzer,
Zhining Wang,
Liming Yang,
J. Alfoldi,
K. Karczewski,
D. MacArthur,
Garret M. Frampton,
Christopher J. Benz,
Joshua M. Stuart,
A. Cherniack,
R. Beroukhim,
F. Hirsch,
Li Ding,
R. Beroukhim,
Z. Gümüş,
S. Plon,
Kuan-lin Huang
|
5 |
2020 |
5
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Identification of constrained sequence elements across 239 primate genomes
92 auth.
Lukas F. K. Kuderna,
Jacob C. Ulirsch,
Sabrina Rashid,
Mohamed Ameen,
Laksshman Sundaram,
G. Hickey,
Anthony J Cox,
Hong Gao,
Arvind Kumar,
F. Aguet,
M. Christmas,
H. Clawson,
M. Haeussler,
Mareike C. Janiak,
Martin Kuhlwilm,
...
Joseph D. Orkin,
T. Bataillon,
S. Manu,
A. Valenzuela,
Juraj Bergman,
Marjolaine Rouselle,
F. E. Silva,
L. Agueda,
J. Blanc,
Marta Gut,
D. de Vries,
Ian Goodhead,
R. A. Harris,
M. Raveendran,
A. Jensen,
I. Chuma,
J. Horvath,
C. Hvilsom,
David Juan,
Peter Frandsen,
J. Schraiber,
F. D. de Melo,
F. Bertuol,
Hazel Byrne,
Iracilda Sampaio,
I. Farias,
J. Valsecchi,
Malu Messias,
M. N. D. Da Silva,
Mihir Trivedi,
R. Rossi,
T. Hrbek,
N. Andriaholinirina,
C. Rabarivola,
A. Zaramody,
Clifford J. Jolly,
J. Phillips-Conroy,
Gregory K Wilkerson,
C. Abee,
J. Simmons,
Eduardo Fernandez-Duque,
Sree Kanthaswamy,
F. Shiferaw,
Dongdong Wu,
Long Zhou,
Yong Shao,
Guojie Zhang,
J. Keyyu,
S. Knauf,
M. Le,
Esther Lizano,
S. Merker,
Arcadi Navarro,
T. Nadler,
Chiea Chuan Khor,
J. Lee,
Patrick Tan,
W. K. Lim,
A. Kitchener,
D. Zinner,
I. Gut,
A. Melin,
K. Guschanski,
M. Schierup,
Robin M D Beck,
Ioannis Karakikes,
Kevin C Wang,
G. Umapathy,
Christian Roos,
Jean P. Boubli,
Adam Siepel,
A. Kundaje,
B. Paten,
Kerstin Lindblad-Toh,
J. Rogers,
Tomas Marques Bonet,
K. Farh
|
4 |
2023 |
4
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Rare penetrant mutations confer severe risk of common diseases
21 auth.
Petko P Fiziev,
J. McRae,
Jacob C. Ulirsch,
J. Dron,
T. Hamp,
Yanshen Yang,
Pierrick Wainschtein,
Zijian Ni,
J. Schraiber,
Hong Gao,
...
Dylan M. Cable,
Yair Field,
F. Aguet,
Marc Fasnacht,
A. Metwally,
J. Rogers,
Tomàs Marquès-Bonet,
H. Rehm,
A. O’Donnell-Luria,
A. Khera,
K. Farh
|
4 |
2023 |
4
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Functional dissection of complex and molecular trait variants at single nucleotide resolution
24 auth.
Layla Siraj,
Rodrigo I. Castro,
Hannah B Dewey,
S. Kales,
T. T. Nguyen,
M. Kanai,
D. Berenzy,
Kousuke Mouri,
Qingbo S. Wang,
Z. McCaw,
...
Sager J. Gosai,
F. Aguet,
Ran Cui,
Christopher M. Vockley,
Caleb A. Lareau,
Yukinori Okada,
Alexander Gusev,
T. Jones,
Eric S. Lander,
P. Sabeti,
H. Finucane,
Steven K. Reilly,
JC Ulirsch,
R. Tewhey
|
3 |
2024 |
3
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|
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Novel syndromic neurodevelopmental disorder caused by de novo deletion of CHASERR, a long noncoding RNA
30 auth.
Vijay S Ganesh,
Kevin Riquin,
N. Chatron,
Kay-Marie Lamar,
Miriam C. Aziz,
Pauline Monin,
Melanie O'Leary,
J. Goodrich,
K. Garimella,
E. England,
Esther S Yoon,
B. Weisburd,
F. Aguet,
C. Bacino,
David R. Murdock,
...
Hongzheng Dai,
Jill A. Rosenfeld,
Lisa T. Emrick,
Shamika Ketkar,
Yael Sarusi,
D. Sanlaville,
Saima Kayani,
Brian Broadbent,
B. Isidor,
Alisée Pengam,
B. Cogné,
D. MacArthur,
I. Ulitsky,
G. Carvill,
A. O’Donnell-Luria
|
2 |
2024 |
2
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|
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Neurodevelopmental Disorder Caused by Deletion of CHASERR, a lncRNA Gene.
31 auth.
Vijay S Ganesh,
Kevin Riquin,
N. Chatron,
Esther Yoon,
Kay-Marie Lamar,
Miriam C. Aziz,
Pauline Monin,
Melanie O'Leary,
J. Goodrich,
K. Garimella,
E. England,
B. Weisburd,
F. Aguet,
C. Bacino,
David R. Murdock,
...
Hongzheng Dai,
J. Rosenfeld,
Lisa T. Emrick,
Shamika Ketkar,
Yael Sarusi,
D. Sanlaville,
Saima Kayani,
Brian Broadbent,
Alisée Pengam,
B. Isidor,
S. Bézieau,
B. Cogné,
Daniel G. MacArthur,
I. Ulitsky,
Gemma L Carvill,
A. O’Donnell-Luria
|
1 |
2024 |
1
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