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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,
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D. Muzny,
M. Nehrebecky,
Stan F. Nelson,
J. S. Newberry,
J. Newman,
S. Nicholas,
Donna Novacic,
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James P. Orengo,
J. C. Pallais,
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Genecee Renteria,
Chloe M Reuter,
Lynette C Rives,
Amy K. Robertson,
Lance H Rodan,
J. Rosenfeld,
J. Sampson,
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K. Schoch,
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Lisa Shakachite,
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V. Shashi,
Rebecca H. Signer,
E. Silverman,
J. Sinsheimer,
Kevin Scott Smith,
Rebecca C. Spillmann,
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C. Tifft,
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T. Vogel,
Daryl Waggott,
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Kym M. Alex Jacek Michael Dennis David Boycott MacKenzie Majewski Brudno Bulman Dyment,
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K. Boycott,
Jason D. Merker,
M. Wheeler,
S. Montgomery
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7 |
2019 |
7 🐜
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Diagnostic utility of transcriptome sequencing for rare Mendelian diseases
32 auth.
Hane Lee,
Alden Huang,
Lee-Kai Wang,
A. Yoon,
Genecee Renteria,
Ascia Eskin,
Rebecca H. Signer,
N. Dorrani,
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E. Douine,
Jeremy D Woods,
E. C. Dell’Angelica,
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M. Butte,
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Y. J. Tavyev Asher,
J. Sinsheimer,
D. Krakow,
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J. Martinez-Agosto,
S. Nelson,
Undiagnosed Diseases Network
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7 |
2019 |
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Bisphenol A impairs the double-strand break repair machinery in the germline and causes chromosome abnormalities
P. Allard,
M. Colaiácovo
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7 |
2010 |
7 🦁
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The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease.
13 auth.
R. Ramoni,
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7 |
2017 |
7 🐜
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Exposure to the BPA-Substitute Bisphenol S Causes Unique Alterations of Germline Function
9 auth.
Yichang Chen,
L. Shu,
Zhiqun Qiu,
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Sara J Settle,
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D. Telesca,
Xia Yang,
P. Allard
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6 |
2016 |
6 🐢
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Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder
216 auth.
M. Oláhová,
W. Yoon,
K. Thompson,
Sharayu V. Jangam,
Liliana Fernandez,
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J. Kyle,
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J. Kohler,
Matthew Holmes,
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L. Frésard,
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H. Barseghyan,
Gabriel F. Batzli,
A. Beggs,
B. Behnam,
A. Bican,
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D. Bonner,
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Ani Dillon,
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Alyssa A. Tran,
Tiina K. Urv,
Z. Valivullah,
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Colleen E. Wahl,
N. Walley,
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P. Ward,
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M. Westerfield,
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Marisa W Friederich,
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H. Bellen,
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M. Wheeler
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6 |
2018 |
6 🐜
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A C. elegans Screening Platform for the Rapid Assessment of Chemical Disruption of Germline Function
P. Allard,
N. Kleinstreuer,
T. Knudsen,
M. Colaiácovo
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6 |
2013 |
6 🦁
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A window into living with an undiagnosed disease: illness narratives from the Undiagnosed Diseases Network
189 auth.
Rebecca C. Spillmann,
A. McConkie-Rosell,
L. Pena,
Yong-hui Jiang,
Christopher J. David R. Mercedes E. Patrick Euan A. Mashid S. Adams Adams Alejandro Allard Ashley Azamian Bacino,
Christopher J. Adams,
D. Adams,
Mercedes E. Alejandro,
P. Allard,
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M. S. Azamian,
C. Bacino,
A. Balasubramanyam,
H. Barseghyan,
A. Beggs,
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H. Bellen,
J. Bernstein,
A. Bican,
D. Bick,
Camille L. Birch,
B. Boone,
Bret L. Bostwick,
Lauren C Briere,
Donna M. Brown,
Matthew H. Brush,
Elizabeth A Burke,
L. Burrage,
K. Chao,
Shan Chen,
G. Clark,
J. Cogan,
Cynthia M. Cooper,
W. Craigen,
M. Davids,
J. Dayal,
E. C. Dell’Angelica,
S. Dhar,
K. Dipple,
Laurel A. Donnell-Fink,
N. Dorrani,
Daniel C. Dorset,
David D. Draper,
Annika M. Dries,
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Lisa T. Emrick,
C. Eng,
Cecilia Esteves,
Tyra Estwick,
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K. Frost,
W. Gahl,
Valerie Gartner,
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M. Goheen,
Gretchen A. Golas,
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M. G. Gordon,
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J. Gourdine,
B. Graham,
C. Groden,
A. Gropman,
Mary E. Hackbarth,
M. Haendel,
R. Hamid,
N. Hanchard,
Lori H. Handley,
I. Hardee,
Matthew R. Herzog,
I. Holm,
Ellen M. Howerton,
H. Jacob,
Mahim Jain,
Yong-hui Jiang,
Jean M. Johnston,
Angela L. Jones,
Alanna E. Koehler,
D. Koeller,
I. Kohane,
J. Kohler,
D. Krasnewich,
Elizabeth L. Krieg,
J. Krier,
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C. Loomis,
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Ellen F. Macnamara,
C. Macrae,
Valerie V. Maduro,
M. Malicdan,
L. Mamounas,
T. Manolio,
T. Markello,
P. Mazur,
Alexandra J. McCarty,
A. McConkie-Rosell,
A. McCray,
T. Metz,
M. Might,
P. Moretti,
J. Mulvihill,
Jennifer Murphy,
D. Muzny,
M. Nehrebecky,
S. Nelson,
J. S. Newberry,
J. Newman,
S. Nicholas,
Donna Novacic,
J. Orange,
J. C. Pallais,
C. Palmer,
J. Papp,
L. Pena,
J. Phillips,
J. Posey,
J. Postlethwait,
L. Potocki,
Barbara N. Pusey,
Rachel Robertson,
Lance H Rodan,
J. Rosenfeld,
S. Sadozai,
S. Samson,
Katherine Schaffer,
K. Schoch,
M. Schroeder,
D. Scott,
Prashant Sharma,
V. Shashi,
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J. Sinsheimer,
A. Soldatos,
Rebecca C. Spillmann,
Kimberly Splinter,
J. Stoler,
N. Stong,
K. Strong,
J. Sullivan,
D. Sweetser,
S. P. Thomas.,
C. Tifft,
Nathanial J. Tolman,
C. Toro,
Alyssa A. Tran,
Z. Valivullah,
E. Vilain,
T. Vogel,
Daryl Waggott,
Colleen E. Wahl,
N. Walley,
C. Walsh,
M. Wangler,
Mike Warburton,
P. Ward,
K. Waters,
B. Webb-Robertson,
A. Weech,
M. Westerfield,
M. Wheeler,
A. L. Wise,
L. Wolfe,
E. Worthey,
Shinya Yamamoto,
Yaping Yang,
Guoyun Yu,
Jing Zhang,
Patricia A. Zornio,
K. Schoch,
N. Walley,
Camilla Sanders,
J. Sullivan,
S. Hooper,
V. Shashi
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6 |
2017 |
6 🐜
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The Memory of Environmental Chemical Exposure in C. elegans Is Dependent on the Jumonji Demethylases jmjd-2 and jmjd-3/utx-1
9 auth.
J. Camacho,
Lisa Truong,
Zeyneb Kurt,
Yen-Wei Chen,
M. Morselli,
Gerardo Gutierrez,
...
M. Pellegrini,
Xia Yang,
P. Allard
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5 |
2018 |
5 🐢
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🐬
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Characterization of a novel ectodermal signaling center regulating Tbx2 and Shh in the vertebrate limb.
S. Nissim,
P. Allard,
A. Bandyopadhyay,
B. Harfe,
C. Tabin
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5 |
2007 |
5 🐬
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