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A structural variation reference for medical and population genetics
183 auth.
Ryan L. Collins,
H. Brand,
K. Karczewski,
Xuefang Zhao,
Jessica Alföldi,
L. Francioli,
A. Khera,
Chelsea Lowther,
L. Gauthier,
Harold Wang,
N. Watts,
M. Solomonson,
Alexander Baumann,
Ruchi Munshi,
Mark Walker,
...
Christopher W. Whelan,
Yongqing Huang,
Ted Brookings,
Ted Sharpe,
M. Stone,
E. Valkanas,
Jack M. Fu,
G. Tiao,
Kristen M. Laricchia,
Valentín Ruano-Rubio,
C. Stevens,
N. Gupta,
C. Cusick,
L. Margolin,
Irina M. Armean,
E. Banks,
Louis Bergelson,
K. Cibulskis,
K. Connolly,
Miguel Covarrubias,
Beryl B. Cummings,
M. Daly,
S. Donnelly,
Y. Farjoun,
S. Ferriera,
S. Gabriel,
Jeff Gentry,
Thibault Jeandet,
D. Kaplan,
Christopher Llanwarne,
E. Minikel,
B. Neale,
Sam Novod,
A. O’Donnell-Luria,
Nikelle Petrillo,
T. Poterba,
David Roazen,
A. Saltzman,
K. Samocha,
M. Schleicher,
C. Seed,
José Soto,
Kathleen M. Tibbetts,
C. Tolonen,
C. Vittal,
Gordon Wade,
Arcturus Wang,
Qingbo S. Wang,
J. Ware,
B. Weisburd,
N. Whiffin,
C. Salinas,
C. Albert,
D. Ardissino,
G. Atzmon,
J. Barnard,
L. Beaugerie,
E. Benjamin,
M. Boehnke,
L. Bonnycastle,
E. Bottinger,
D. Bowden,
M. Bown,
J. Chambers,
J. Chan,
D. Chasman,
Judy H. Cho,
M. Chung,
Bruce M Cohen,
A. Correa,
D. Dabelea,
D. Darbar,
R. Duggirala,
J. Dupuis,
P. Ellinor,
R. Elosúa,
J. Erdmann,
T. Esko,
M. Färkkilä,
J. Florez,
A. Franke,
G. Getz,
Benjamin Glaser,
S. Glatt,
David B. Goldstein,
Clicerio Gonzalez,
L. Groop,
Christopher A. Haiman,
Craig Hanis,
Matthew Harms,
M. Hiltunen,
M. Holi,
C. Hultman,
M. Kallela,
J. Kaprio,
S. Kathiresan,
Bong-Jo Kim,
Y. J. Kim,
G. Kirov,
J. Kooner,
S. Koskinen,
H. Krumholz,
S. Kugathasan,
S. Kwak,
M. Laakso,
T. Lehtimäki,
R. Loos,
S. Lubitz,
Ronald C. W. Ma,
D. MacArthur,
J. Marrugat,
K. Mattila,
S. Mccarroll,
M. McCarthy,
D. McGovern,
R. McPherson,
J. Meigs,
O. Melander,
A. Metspalu,
P. M. Nilsson,
M. O’Donovan,
D. Öngür,
L. Orozco,
M. Owen,
C. Palmer,
A. Palotie,
K. Park,
C. Pato,
A. Pulver,
N. Rahman,
A. Remes,
J. Rioux,
S. Ripatti,
D. Roden,
D. Saleheen,
V. Salomaa,
N. Samani,
J. Scharf,
H. Schunkert,
M. B. Shoemaker,
P. Sklar,
H. Soininen,
H. Sokol,
T. Spector,
P. Sullivan,
J. Suvisaari,
E. Tai,
Y. Teo,
Tuomi Tiinamaija,
Ming Tsuang,
D. Turner,
Teresa Tusié-Luna,
E. Vartiainen,
H. Watkins,
R. Weersma,
M. Wessman,
James G. Wilson,
R. Xavier,
K. Taylor,
Henry J. Lin,
S. Rich,
W. Post,
Y. Chen,
J. Rotter,
C. Nusbaum,
A. Philippakis,
E. Lander,
M. Talkowski
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9 |
2020 |
9
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Rare coding variation provides insight into the genetic architecture and phenotypic context of autism
72 auth.
Jack M. Fu,
F. Satterstrom,
Minshi Peng,
H. Brand,
Ryan L. Collins,
Shan Dong,
Brie Wamsley,
L. Klei,
Lily Wang,
Stephanie P Hao,
C. Stevens,
C. Cusick,
M. Babadi,
E. Banks,
Brett L. Collins,
...
S. Dodge,
S. Gabriel,
L. Gauthier,
Samuel K. Lee,
Lindsay Liang,
A. Ljungdahl,
B. Mahjani,
Laura G. Sloofman,
A. Smirnov,
M. Barbosa,
C. Betancur,
A. Brusco,
B. Chung,
E. Cook,
M. Cuccaro,
E. Domenici,
G. Ferrero,
J. Gargus,
G. Herman,
I. Hertz-Picciotto,
P. Maciel,
D. Manoach,
M. Passos-Bueno,
A. Persico,
A. Renieri,
J. Sutcliffe,
F. Tassone,
E. Trabetti,
Gabriele Campos,
S. Cardaropoli,
D. Carli,
Marcus C. Y. Chan,
C. Fallerini,
E. Giorgio,
A. C. Girardi,
Emily Hansen-Kiss,
S. L. Lee,
Carla Lintas,
Yunin J. Ludeña,
Rachel Nguyen,
Lisa Pavinato,
M. Pericak-Vance,
I. Pessah,
R. Schmidt,
Moyra J. Smith,
C. I. Costa,
S. Trajkova,
J. Wang,
M. Yu,
D. Cutler,
Silvia De Rubeis,
J. Buxbaum,
M. Daly,
B. Devlin,
K. Roeder,
Stephan J Sanders,
M. Talkowski
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8 |
2022 |
8
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A cross-disorder dosage sensitivity map of the human genome
34 auth.
Ryan L. Collins,
J. Glessner,
E. Porcu,
Theodore J. Morley,
Lisa-Marie Niestroj,
J. Ulirsch,
Georgios Kellaris,
D. Howrigan,
S. Everett,
Kiana Mohajeri,
X. Nuttle,
Chelsea Lowther,
Jack M. Fu,
Philip M Boone,
Farid Ullah,
...
K. Samocha,
K. Karczewski,
D. Lucente,
J. Gusella,
H. Finucane,
L. Matyakhina,
S. Aradhya,
J. Meck,
Dennis Lal,
B. Neale,
Jennelle C Hodge,
A. Reymond,
Z. Kutalik,
N. Katsanis,
E. Davis,
H. Hakonarson,
S. Sunyaev,
H. Brand,
M. Talkowski
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7 |
2021 |
7
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Expectations and blind spots for structural variation detection from long-read assemblies and short-read genome sequencing technologies.
23 auth.
Xuefang Zhao,
Ryan L. Collins,
Wan-Ping Lee,
Alexandra M. Weber,
Y. Jun,
Qihui Zhu,
B. Weisburd,
Yongqing Huang,
P. Audano,
Harold Wang,
...
Mark Walker,
Chelsea Lowther,
Jack M. Fu,
M. Gerstein,
S. Devine,
T. Marschall,
J. Korbel,
E. Eichler,
Mark J. P. Chaisson,
Charles Lee,
Ryan E. Mills,
H. Brand,
M. Talkowski
|
6 |
2021 |
6
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An open resource of structural variation for medical and population genetics
45 auth.
Ryan L. Collins,
H. Brand,
K. Karczewski,
Xuefang Zhao,
Jessica Alföldi,
A. Khera,
L. Francioli,
L. Gauthier,
Harold Wang,
N. Watts,
M. Solomonson,
A. O’Donnell-Luria,
Alexander Baumann,
Ruchi Munshi,
Chelsea Lowther,
...
Mark Walker,
Christopher W. Whelan,
Yongqing Huang,
Ted Brookings,
Ted Sharpe,
M. Stone,
E. Valkanas,
Jack M. Fu,
G. Tiao,
Kristen M. Laricchia,
C. Stevens,
N. Gupta,
L. Margolin,
J. Spertus,
K. Taylor,
Henry J. Lin,
S. Rich,
W. Post,
Y. Ida Chen,
J. Rotter,
C. Nusbaum,
A. Philippakis,
E. Lander,
S. Gabriel,
B. Neale,
S. Kathiresan,
M. Daly,
E. Banks,
D. MacArthur,
M. Talkowski
|
6 |
2019 |
6
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Activity-Dependent Degradation of the Nascentome by the Neuronal Membrane Proteasome.
K. Ramachandran,
Jack M. Fu,
T. Schaffer,
C. Na,
Michael. Delannoy,
S. S. Margolis
|
5 |
2018 |
5
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Centers for Mendelian Genomics: A decade of facilitating gene discovery
241 auth.
Samantha M. Baxter,
J. Posey,
N. Lake,
Nara Sobreira,
Jessica X. Chong,
S. Buyske,
Elizabeth E. Blue,
L. Chadwick,
Z. Coban-Akdemir,
K. Doheny,
Colleen Davis,
M. Lek,
Christopher Wellington,
S. Jhangiani,
M. Gerstein,
...
R. Gibbs,
R. Lifton,
D. MacArthur,
T. Matise,
J. Lupski,
D. Valle,
M. Bamshad,
A. Hamosh,
Shrikant Mane,
D. Nickerson,
H. Rehm,
A. O’Donnell-Luria,
Marcia Adams,
F. Aguet,
Gulsen Akay,
Peter Anderson,
C. Antonescu,
H. Arachchi,
M. M. Atik,
C. Austin-Tse,
Larry Babb,
Tamara J. Bacus,
Vahid Bahrambeigi,
S. Balasubramanian,
Y. Bayram,
A. Beaudet,
C. Beck,
J. Belmont,
J. Below,
K. Bilguvar,
C. Boehm,
E. Boerwinkle,
Philip M Boone,
S. J. Bowne,
H. Brand,
K. Buckingham,
Alicia B. Byrne,
D. Calame,
I. Campbell,
Xiaolong Cao,
C. Carvalho,
Varuna Chander,
Jaime Chang,
K. Chao,
Ivan K. Chinn,
Declan Clarke,
Ryan L. Collins,
Beryl B. Cummings,
Z. Dardas,
Moez Dawood,
Kayla Delano,
Stephanie P. DiTroia,
H. Doddapaneni,
Renqian Du,
Ruizhi Duan,
M. Eldomery,
C. Eng,
E. England,
Emily Evangelista,
S. Everett,
Jawid M Fatih,
A. Felsenfeld,
L. Francioli,
C. D. Frazar,
Jack M. Fu,
Emmanuel Gamarra,
T. Gambin,
Weiniu Gan,
Mira Gandhi,
V. Ganesh,
K. Garimella,
L. Gauthier,
D. Giroux,
C. Gonzaga‐Jauregui,
J. Goodrich,
W. Gordon,
Sean Griffith,
Christopher M. Grochowski,
Shen Gu,
Sanna Gudmundsson,
S. Hall,
Adam W. Hansen,
T. Harel,
A. Harmanci,
Isabella Herman,
K. Hetrick,
H. Hijazi,
M. Horike‐Pyne,
E. Hsu,
Jianhong Hu,
Yongqing Huang,
Jameson R. Hurless,
Steve Jahl,
G. Jarvik,
Yunyun Jiang,
E. Johanson,
Angad Jolly,
E. Karaca,
Michael M. Khayat,
James R. Knight,
J. Kolar,
Sushant Kumar,
S. Lalani,
Kristen M. Laricchia,
K. Larkin,
S. Leal,
G. Lemire,
R. Lewis,
He Li,
H. Ling,
Rachel B. Lipson,
Pengfei Liu,
A. Lovgren,
F. López-Giráldez,
Melissa P. MacMillan,
B. Mangilog,
Stacy-Ann Mano,
Dana Marafi,
B. Marosy,
Jamie L. Marshall,
R. Martin,
Colby T. Marvin,
Michelle Mawhinney,
Sean R Mcgee,
Daniel McGoldrick,
M. Mehaffey,
Betselote Mekonnen,
Xiaolu Meng,
Tadahiro Mitani,
C. Miyake,
David W. Mohr,
S. Morris,
T. Mullen,
David R. Murdock,
M. Murugan,
D. Muzny,
Ben Myers,
J. Neira,
K. Nguyen,
P. M. Nielsen,
Natalie Nudelman,
Emily O’Heir,
M. O’Leary,
Chrissie M. Ongaco,
J. Orange,
I. Osei-Owusu,
Ingrid Paine,
L. Pais,
J. Paschall,
Karynne E. Patterson,
D. Pehlivan,
B. Pelle,
S. Penney,
Jorge Perez de Acha Chavez,
E. Pierce-Hoffman,
Cecilia Poli,
J. Punetha,
A. Radhakrishnan,
Matthew Richardson,
E. Rodrigues,
Gwendolin T. Roote,
J. Rosenfeld,
E. Ryke,
A. Sabo,
Alice Sanchez,
I. Schrauwen,
D. Scott,
F. Sedlazeck,
J. Serrano,
Chad A. Shaw,
T. Shelford,
Kathryn M. Shively,
M. Singer-Berk,
Joshua D. Smith,
Hana R. Snow,
Grace Snyder,
M. Solomonson,
Rachel G Son,
Xiaofei Song,
P. Stankiewicz,
Taylorlyn Stephan,
V. Sutton,
A. Sveden,
Diana Cornejo Sánchez,
M. Tackett,
M. Talkowski,
M. Threlkeld,
G. Tiao,
M. Udler,
L. Vail,
Z. Valivullah,
E. Valkanas,
G. VanNoy,
Qingbo S. Wang,
Gao Wang,
Lu Wang,
M. Wangler,
N. Watts,
B. Weisburd,
Jeffrey M. Weiss,
Marsha M. Wheeler,
Janson J. White,
C. Williamson,
Michael W. Wilson,
W. Wiszniewski,
Marjorie A. Withers,
D. Witmer,
Lauren Witzgall,
Elizabeth S Wohler,
M. Wojcik,
Isaac Wong,
J. Wood,
Nan Wu,
Jinchuan Xing,
Yaping Yang,
Q. Yi,
Bo Yuan,
Jordan Zeiger,
Chaofan Zhang,
Peng Zhang,
Yan Zhang,
Xiaohong Zhang,
Yeting Zhang,
Shifa Zhang,
H. Zoghbi,
I. B. Van den Veyver
|
5 |
2021 |
5
🐜
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|
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GATK-gCNV enables the discovery of rare copy number variants from exome sequencing data
15 auth.
M. Babadi,
Jack M. Fu,
Samuel K. Lee,
A. Smirnov,
L. Gauthier,
Mark A. Walker,
David I. Benjamin,
Xuefang Zhao,
K. Karczewski,
Isaac Wong,
...
Ryan L. Collins,
Alba Sanchis-Juan,
H. Brand,
E. Banks,
M. Talkowski
|
5 |
2023 |
5
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Whole exome sequencing analyses reveal gene–microbiota interactions in the context of IBD
22 auth.
Shixian Hu,
A. Vich Vila,
R. Gacesa,
V. Collij,
C. Stevens,
Jack M. Fu,
Isaac Wong,
M. Talkowski,
M. Rivas,
F. Imhann,
...
L. Bolte,
H. V. van Dullemen,
G. Dijkstra,
M. Visschedijk,
E. Festen,
R. Xavier,
Jingyuan Fu,
M. Daly,
C. Wijmenga,
A. Zhernakova,
A. Kurilshikov,
R. Weersma
|
5 |
2020 |
5
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Rare coding variation illuminates the allelic architecture, risk genes, cellular expression patterns, and phenotypic context of autism
65 auth.
Jack M. Fu,
F. Satterstrom,
Minshi Peng,
H. Brand,
Ryan L. Collins,
Shan Dong,
L. Klei,
C. Stevens,
C. Cusick,
M. Babadi,
E. Banks,
B. Collins,
S. Dodge,
S. Gabriel,
L. Gauthier,
...
Samuel K. Lee,
Lindsay Liang,
A. Ljungdahl,
B. Mahjani,
Laura G. Sloofman,
A. Smirnov,
M. Barbosa,
A. Brusco,
B. Chung,
M. Cuccaro,
E. Domenici,
G. Ferrero,
J. Gargus,
G. Herman,
I. Hertz-Picciotto,
P. Maciel,
D. Manoach,
M. Passos-Bueno,
A. Persico,
A. Renieri,
F. Tassone,
E. Trabetti,
Gabriele Campos,
Marcus C. Y. Chan,
C. Fallerini,
E. Giorgio,
A. Girard,
Emily Hansen-Kiss,
S. L. Lee,
Carla Lintas,
Yunin J. Ludeña,
Rachel Nguyen,
Lisa Pavinato,
M. Pericak-Vance,
Isaac Pessah,
E. Riberi,
R. Schmidt,
Moyra J. Smith,
Claudia I. C. Souza,
S. Trajkova,
J. Wang,
M. Yu,
D. Cutler,
Silvia De Rubeis,
J. Buxbaum,
M. Daly,
B. Devlin,
K. Roeder,
Stephan J Sanders,
M. Talkowski
|
5 |
2021 |
5
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