🐜
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Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts
242 auth.
L. Frésard,
Craig Smail,
N. Ferraro,
Nicole A. Teran,
Xin Li,
Kevin Scott Smith,
D. Bonner,
K. Kernohan,
S. Marwaha,
Zachary Zappala,
Brunilda Balliu,
Joe R. Davis,
Boxiang Liu,
Cameron J. Prybol,
J. Kohler,
...
Diane B. Zastrow,
Chloe M Reuter,
D. Fisk,
Megan E. Grove,
Jean M. Davidson,
T. Hartley,
R. Joshi,
B. Strober,
Sowmi Utiramerur,
D. Adams,
A. Aday,
Mercedes E. Alejandro,
P. Allard,
Euan A. Ashley,
M. Azamian,
C. Bacino,
Eva Baker,
A. Balasubramanyam,
H. Barseghyan,
Gabriel F. Batzli,
A. Beggs,
B. Behnam,
H. Bellen,
Jonathan A Bernstein,
Gerard T. Berry,
A. Bican,
D. Bick,
Camille L. Birch,
D. Bonner,
B. Boone,
Bret L. Bostwick,
Lauren C Briere,
Elly Brokamp,
Donna M. Brown,
Matthew Brush,
Elizabeth A Burke,
L. Burrage,
M. Butte,
Shan Chen,
G. Clark,
T. Coakley,
J. Cogan,
H. Colley,
Cynthia M. Cooper,
H. Cope,
W. Craigen,
Precilla D’Souza,
M. Davids,
Jean M. Davidson,
J. Dayal,
E. C. Dell’Angelica,
S. Dhar,
K. Dipple,
Laurel A. Donnell-Fink,
N. Dorrani,
Daniel C. Dorset,
E. Douine,
David D. Draper,
Annika M. Dries,
Laura Duncan,
D. Eckstein,
Lisa T. Emrick,
C. Eng,
G. Enns,
Ascia Eskin,
Cecilia Esteves,
Tyra Estwick,
Liliana Fernandez,
C. Ferreira,
Elizabeth Fieg,
P. Fisher,
B. Fogel,
Noah D. Friedman,
W. Gahl,
Emily Glanton,
Rena A. Godfrey,
A. Goldman,
David B. Goldstein,
Sarah E. Gould,
J. Gourdine,
C. Groden,
A. Gropman,
M. Haendel,
Rizwana Hamid,
N. Hanchard,
F. High,
I. Holm,
J. Hom,
Ellen M. Howerton,
Yong Huang,
Fariha Jamal,
Yongjie Jiang,
Jean M. Johnston,
Angela L. Jones,
L. Karaviti,
D. Koeller,
I. Kohane,
J. Kohler,
D. Krasnewich,
S. Korrick,
Mary E. Koziura,
J. Krier,
J. Kyle,
S. Lalani,
C. Lau,
J. Lazar,
Kimberly Leblanc,
Brendan Lee,
Hane Lee,
Shawn E. Levy,
R. Lewis,
Sharyn A. Lincoln,
S. Loo,
J. Loscalzo,
R. Maas,
Ellen F. Macnamara,
C. Macrae,
Valerie V. Maduro,
Marta M. Majcherska,
M. Malicdan,
L. Mamounas,
T. Manolio,
T. Markello,
Ronit Marom,
Martin G. Martin,
J. Martinez-Agosto,
S. Marwaha,
Thomas May,
A. McConkie-Rosell,
Col Mccormack,
A. McCray,
Jason D. Merker,
T. Metz,
M. Might,
P. Moretti,
Marie Morimoto,
J. Mulvihill,
David R. Murdock,
Jennifer Murphy,
D. Muzny,
M. Nehrebecky,
Stan F. Nelson,
J. S. Newberry,
J. Newman,
S. Nicholas,
Donna Novacic,
Jordan S. Orange,
James P. Orengo,
J. C. Pallais,
C. Palmer,
J. Papp,
Neil H. Parker,
Loren D. M. Pena,
J. Phillips,
J. Posey,
J. Postlethwait,
L. Potocki,
Barbara N. Pusey,
Genecee Renteria,
Chloe M Reuter,
Lynette C Rives,
Amy K. Robertson,
Lance H Rodan,
J. Rosenfeld,
J. Sampson,
S. Samson,
K. Schoch,
D. Scott,
Lisa Shakachite,
Prashant Sharma,
V. Shashi,
Rebecca H. Signer,
E. Silverman,
J. Sinsheimer,
Kevin Scott Smith,
Rebecca C. Spillmann,
J. Stoler,
N. Stong,
J. Sullivan,
D. Sweetser,
Q. Tan,
C. Tifft,
C. Toro,
Alyssa A. Tran,
Tiina K. Urv,
E. Vilain,
T. Vogel,
Daryl Waggott,
Colleen E. Wahl,
N. Walley,
C. Walsh,
M. Walker,
Jijun Wan,
M. Wangler,
P. Ward,
K. Waters,
B. Webb-Robertson,
M. Westerfield,
M. Wheeler,
A. L. Wise,
L. Wolfe,
E. Worthey,
Shinya Yamamoto,
John Yang,
Yaping Yang,
A. Yoon,
Guoyun Yu,
Diane B. Zastrow,
Chunli Zhao,
Allison Zheng,
Kym M. Alex Jacek Michael Dennis David Boycott MacKenzie Majewski Brudno Bulman Dyment,
K. Boycott,
A. MacKenzie,
J. Majewski,
M. Brudno,
D. Bulman,
D. Dyment,
L. Lind,
E. Ingelsson,
A. Battle,
G. Bejerano,
Jonathan A Bernstein,
Euan A. Ashley,
K. Boycott,
Jason D. Merker,
M. Wheeler,
S. Montgomery
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7 |
2019 |
7 🐜
|
🐜
|
Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts
242 auth.
L. Frésard,
Craig Smail,
N. Ferraro,
Nicole A. Teran,
Xin Li,
Kevin Scott Smith,
D. Bonner,
K. Kernohan,
S. Marwaha,
Zachary Zappala,
Brunilda Balliu,
Joe R. Davis,
Boxiang Liu,
Cameron J. Prybol,
J. Kohler,
...
Diane B. Zastrow,
Chloe M Reuter,
D. Fisk,
Megan E. Grove,
Jean M. Davidson,
T. Hartley,
R. Joshi,
B. Strober,
Sowmi Utiramerur,
D. Adams,
A. Aday,
Mercedes E. Alejandro,
P. Allard,
Euan A. Ashley,
M. Azamian,
C. Bacino,
Eva Baker,
A. Balasubramanyam,
H. Barseghyan,
Gabriel F. Batzli,
A. Beggs,
B. Behnam,
H. Bellen,
Jonathan A Bernstein,
Gerard T. Berry,
A. Bican,
D. Bick,
Camille L. Birch,
D. Bonner,
B. Boone,
Bret L. Bostwick,
Lauren C Briere,
Elly Brokamp,
Donna M. Brown,
Matthew Brush,
Elizabeth A Burke,
L. Burrage,
M. Butte,
Shan Chen,
G. Clark,
T. Coakley,
J. Cogan,
H. Colley,
Cynthia M. Cooper,
H. Cope,
W. Craigen,
Precilla D’Souza,
M. Davids,
Jean M. Davidson,
J. Dayal,
E. C. Dell’Angelica,
S. Dhar,
K. Dipple,
Laurel A. Donnell-Fink,
N. Dorrani,
Daniel C. Dorset,
E. Douine,
David D. Draper,
Annika M. Dries,
Laura Duncan,
D. Eckstein,
Lisa T. Emrick,
C. Eng,
G. Enns,
Ascia Eskin,
Cecilia Esteves,
Tyra Estwick,
Liliana Fernandez,
C. Ferreira,
Elizabeth Fieg,
P. Fisher,
B. Fogel,
Noah D. Friedman,
W. Gahl,
Emily Glanton,
Rena A. Godfrey,
A. Goldman,
David B. Goldstein,
Sarah E. Gould,
J. Gourdine,
C. Groden,
A. Gropman,
M. Haendel,
Rizwana Hamid,
N. Hanchard,
F. High,
I. Holm,
J. Hom,
Ellen M. Howerton,
Yong Huang,
Fariha Jamal,
Yongjie Jiang,
Jean M. Johnston,
Angela L. Jones,
L. Karaviti,
D. Koeller,
I. Kohane,
J. Kohler,
D. Krasnewich,
S. Korrick,
Mary E. Koziura,
J. Krier,
J. Kyle,
S. Lalani,
C. Lau,
J. Lazar,
Kimberly Leblanc,
Brendan Lee,
Hane Lee,
Shawn E. Levy,
R. Lewis,
Sharyn A. Lincoln,
S. Loo,
J. Loscalzo,
R. Maas,
Ellen F. Macnamara,
C. Macrae,
Valerie V. Maduro,
Marta M. Majcherska,
M. Malicdan,
L. Mamounas,
T. Manolio,
T. Markello,
Ronit Marom,
Martin G. Martin,
J. Martinez-Agosto,
S. Marwaha,
Thomas May,
A. McConkie-Rosell,
Col Mccormack,
A. McCray,
Jason D. Merker,
T. Metz,
M. Might,
P. Moretti,
Marie Morimoto,
J. Mulvihill,
David R. Murdock,
Jennifer Murphy,
D. Muzny,
M. Nehrebecky,
Stan F. Nelson,
J. S. Newberry,
J. Newman,
S. Nicholas,
Donna Novacic,
Jordan S. Orange,
James P. Orengo,
J. C. Pallais,
C. Palmer,
J. Papp,
Neil H. Parker,
Loren D. M. Pena,
J. Phillips,
J. Posey,
J. Postlethwait,
L. Potocki,
Barbara N. Pusey,
Genecee Renteria,
Chloe M Reuter,
Lynette C Rives,
Amy K. Robertson,
Lance H Rodan,
J. Rosenfeld,
J. Sampson,
S. Samson,
K. Schoch,
D. Scott,
Lisa Shakachite,
Prashant Sharma,
V. Shashi,
Rebecca H. Signer,
E. Silverman,
J. Sinsheimer,
Kevin Scott Smith,
Rebecca C. Spillmann,
J. Stoler,
N. Stong,
J. Sullivan,
D. Sweetser,
Q. Tan,
C. Tifft,
C. Toro,
Alyssa A. Tran,
Tiina K. Urv,
E. Vilain,
T. Vogel,
Daryl Waggott,
Colleen E. Wahl,
N. Walley,
C. Walsh,
M. Walker,
Jijun Wan,
M. Wangler,
P. Ward,
K. Waters,
B. Webb-Robertson,
M. Westerfield,
M. Wheeler,
A. L. Wise,
L. Wolfe,
E. Worthey,
Shinya Yamamoto,
John Yang,
Yaping Yang,
A. Yoon,
Guoyun Yu,
Diane B. Zastrow,
Chunli Zhao,
Allison Zheng,
Kym M. Alex Jacek Michael Dennis David Boycott MacKenzie Majewski Brudno Bulman Dyment,
K. Boycott,
A. MacKenzie,
J. Majewski,
M. Brudno,
D. Bulman,
D. Dyment,
L. Lind,
E. Ingelsson,
A. Battle,
G. Bejerano,
Jonathan A Bernstein,
Euan A. Ashley,
K. Boycott,
Jason D. Merker,
M. Wheeler,
S. Montgomery
|
7 |
2019 |
7 🐜
|
🐜
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The impact of rare variation on gene expression across tissues 1
14 auth.
Xin Li,
Yungil Kim,
Emily K. Tsang,
Joe R. Davis,
Farhan N. Damani,
Colby Chiang,
Zachary Zappala,
B. Strober,
Alexandra J. Scott,
A. Ganna,
...
Jason D. Merker,
Ira M. Hall,
Alexis Battle,
Stephen B Montgomery
|
0 |
2016 |
0 🐜
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