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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,
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J. Dupuis,
P. Ellinor,
R. Elosúa,
J. Erdmann,
T. Esko,
M. Färkkilä,
J. Florez,
A. Franke,
G. Getz,
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C. Nusbaum,
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2020 |
9
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Repeat expansions confer WRN dependence in microsatellite-unstable cancers
33 auth.
Niek van Wietmarschen,
Sriram Sridharan,
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E. Callen,
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Frida Belinky,
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Yongqing Huang,
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6 |
2020 |
6
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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,
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B. Weisburd,
Yongqing Huang,
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Mark Walker,
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Jack M. Fu,
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M. Talkowski
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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,
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Y. Ida Chen,
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A. Philippakis,
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M. Daly,
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2019 |
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Centers for Mendelian Genomics: A decade of facilitating gene discovery
241 auth.
Samantha M. Baxter,
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Moez Dawood,
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M. Eldomery,
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Jameson R. Hurless,
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Angad Jolly,
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Jinchuan Xing,
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5 |
2021 |
5
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Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death
200 auth.
Alicia B. Byrne,
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Thuong T. Ha,
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L. Pais,
A. O’Donnell-Luria,
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H. Arachchi,
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Larry Babb,
Samantha M. Baxter,
H. Brand,
Jaime Chang,
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Beryl B. Cummings,
Kayla Delano,
Stephanie P. DiTroia,
E. England,
Emily Evangelista,
S. Everett,
L. Francioli,
Jack M. Fu,
V. Ganesh,
K. Garimella,
L. Gauthier,
J. Goodrich,
Sanna Gudmundsson,
S. Hall,
Yongqing Huang,
Steve Jahl,
Kristen M. Laricchia,
K. Larkin,
M. Lek,
G. Lemire,
Rachel B. Lipson,
A. Lovgren,
D. MacArthur,
B. Mangilog,
Stacy-Ann Mano,
Jamie L. Marshall,
T. Mullen,
K. Nguyen,
Emily O’Heir,
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I. Osei-Owusu,
Jorge Perez de Acha Chavez,
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H. Rehm,
J. Serrano,
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Hana R. Snow,
M. Solomonson,
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Z. Valivullah,
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G. VanNoy,
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Milena Babic,
M. Frank,
Jinghua Feng,
Paul P. S. Wang,
D. Lawrence,
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Luis Arriola,
J. Toubia,
Hung Nguyen,
Disna Abeysuriya,
L. Adès,
David J. Amor,
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Madhura Bakshi,
Bligh D. Berry,
Tiffany F. Boughtwood,
A. Bournazos,
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Jonathan Clark,
Jackie Collett,
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Keri Finlay,
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J. Gécz,
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Denise A. Howting,
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M. Krivanek,
Thessa Kroes,
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Stephanie Lau,
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Jonathan Rodgers,
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Isabella Sherburn,
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A. Solinas,
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E. Thompson,
S. Tripathy,
Anand Vasudevan,
M. Vazquez,
K. Verma,
Mthulisi Viki,
M. Wallis,
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H. Scott
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4 |
2023 |
4
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Author Correction: A structural variation reference for medical and population genetics
46 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,
A. O’Donnell-Luria,
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,
K. Taylor,
Henry J. Lin,
S. Rich,
W. Post,
Y. Chen,
J. Rotter,
C. Nusbaum,
A. Philippakis,
E. Lander,
S. Gabriel,
B. Neale,
S. Kathiresan,
M. Daly,
E. Banks,
D. MacArthur,
M. Talkowski
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3 |
2021 |
3
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Expectations and blind spots for structural variation detection from short-read alignment and long-read assembly
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,
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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
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3 |
2020 |
3
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A Beary Good Genome: Haplotype-Resolved, Chromosome-Level Assembly of the Brown Bear (Ursus arctos)
8 auth.
E. Armstrong,
B. W. Perry,
Yongqing Huang,
K. Garimella,
H. Jansen,
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...
Nathanial Tucker,
Joanna L. Kelley
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1 |
2022 |
1
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Considerations for reporting variants in novel candidate genes identified during clinical genomic testing.
232 auth.
Jessica X. Chong,
Seth I. Berger,
Samantha Baxter,
Erica Smith,
Changrui Xiao,
D. Calame,
Megan H. Hawley,
E. A. Rivera-Munoz,
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Siwaar Abouhala,
Jessica Albert,
M. Almalvez,
Raquel Alvarez,
Mutaz Amin,
Peter Anderson,
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Swaroop Aradhya,
Euan Ashley,
T. Assimes,
Light Auriga,
C. Austin-Tse,
M. Bamshad,
H. Barseghyan,
S. Behera,
Shaghayegh Beheshti,
G. Bejerano,
Seth I. Berger,
Jonathan A Bernstein,
Sabrina M. Best,
Benjamin Blankenmeister,
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Harrison Brand,
K. Buckingham,
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Silvia Casadei,
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Clarisa Chavez,
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Sarah Conner,
M. Conomos,
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Sara Currin,
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Haowei Du,
Ruizhi Duan,
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Nhat Duong,
Michael Duyzend,
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Sara Emami,
Jamie Fraser,
Vincent Fusaro,
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Brandon Garcia,
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Sanna Gudmundsson,
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Jianhong Hu,
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Jessica Kain,
Parneet Kaur,
Laura Keehan,
Susan Knoblach,
Arthur Ko,
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Soumya Kundu,
Samuel M. Lancaster,
Katie Larsson,
Arthur S. Lee,
G. Lemire,
Richard A. Lewis,
Wei Li,
Yidan Li,
Pengfei Liu,
Jonathan Lotempio,
James Lupski,
Jialan Ma,
D. MacArthur,
M. Mahmoud,
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B. Mangilog,
Dana Marafi,
Sofia Marmolejos,
Daniel Marten,
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Francesco Kumara Mastrorosa,
D. Matalon,
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Robert Nussbaum,
Keith Nykamp,
William D. O'Callaghan,
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Evin M. Padhi,
Lynn Pais,
Miao Pan,
Piyush Panchal,
Karynne E. Patterson,
Sheryl Payne,
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Paul Petrowski,
Alicia Pham,
Georgia Pitsava,
Astaria Sara Podesta,
Sarah Ponce,
Elizabeth Porter,
Jennifer Posey,
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Ali Shojaie,
Mugdha Singh,
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Josh Smith,
Hana R. Snow,
Michael Snyder,
Kayla Socarras,
Lea M. Starita,
Brigitte Stark,
S. Stenton,
Andrew Stergachis,
A. Stilp,
V. R. Sutton,
Jui-Cheng Tai,
Michael Talkowski,
Christina Tise,
Catherine Tong,
Philip S. Tsao,
Rachel A. Ungar,
G. VanNoy,
E. Vilain,
Isabella Voutos,
Kim Walker,
Chia-Lin Wei,
B. Weisburd,
Jeff Weiss,
Chris Wellington,
Ziming Weng,
Emily Westheimer,
Marsha M. Wheeler,
M. Wheeler,
Laurens Wiel,
Michael Wilson,
Monica Wojcik,
Quenna Wong,
Rachita Yadav,
Qian Yi,
Bo Yuan,
Jianhua Zhao,
Jimmy Zhen,
Harry Zhou,
M. Bamshad,
Heidi L. Rehm
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2024 |
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