|
🐜
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Next-generation mapping: a novel approach for detection of pathogenic structural variants with a potential utility in clinical diagnosis
12 auth.
H. Barseghyan,
Wilson Tang,
Richard T. Wang,
M. Almalvez,
Eva E. Segura,
M. Bramble,
...
Allen Lipson,
E. Douine,
Hane Lee,
Emmanuèle C. Délot,
S. Nelson,
E. Vilain
|
6 |
2017 |
6
🐜
|
|
🐜
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A novel follicle-stimulating hormone receptor mutation causing primary ovarian failure: a fertility application of whole exome sequencing.
15 auth.
M. Bramble,
E. Goldstein,
Allen Lipson,
Tuck C. Ngun,
Ascia Eskin,
Jason E. Gosschalk,
Lara Roach,
Neerja Vashist,
H. Barseghyan,
Eric Lee,
...
Valerie A. Arboleda,
Daniel Vaiman,
Z. Yuksel,
M. Fellous,
E. Vilain
|
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,
Jean M. Davidson,
J. Kyle,
Megan E. Grove,
D. Fisk,
J. Kohler,
Matthew Holmes,
Annika M. Dries,
Yong Huang,
Chunli Zhao,
K. Contrepois,
...
Zachary Zappala,
L. Frésard,
Daryl Waggott,
Erika M. Zink,
Young-Mo Kim,
H. Heyman,
K. Stratton,
B. Webb-Robertson,
D. Adams,
Mercedes E. Alejandro,
P. Allard,
M. Azamian,
C. Bacino,
A. Balasubramanyam,
H. Barseghyan,
Gabriel F. Batzli,
A. Beggs,
B. Behnam,
A. Bican,
D. Bick,
Camille L. Birch,
D. Bonner,
B. Boone,
Bret L. Bostwick,
Lauren C Briere,
Donna M. Brown,
Matthew H. Brush,
Elizabeth A Burke,
L. Burrage,
Shan Chen,
G. Clark,
T. Coakley,
J. Cogan,
Cynthia M. Cooper,
H. Cope,
W. Craigen,
Precilla D’Souza,
M. Davids,
J. Dayal,
E. C. Dell’Angelica,
S. Dhar,
Ani Dillon,
K. Dipple,
Laurel A. Donnell-Fink,
N. Dorrani,
Daniel C. Dorset,
E. Douine,
David D. Draper,
D. Eckstein,
Lisa T. Emrick,
C. Eng,
Ascia Eskin,
Cecilia Esteves,
Tyra Estwick,
C. Ferreira,
B. Fogel,
Noah D. Friedman,
W. Gahl,
Emily Glanton,
Rena A. Godfrey,
David B. Goldstein,
Sarah E. Gould,
J. Gourdine,
C. Groden,
A. Gropman,
M. Haendel,
Rizwana Hamid,
N. Hanchard,
Lori H. Handley,
Matthew R. Herzog,
I. Holm,
J. Hom,
Ellen M. Howerton,
Yong Huang,
Howard J. Jacob,
Mahim Jain,
Yong-hui Jiang,
Jean M. Johnston,
Angela L. Jones,
I. Kohane,
D. Krasnewich,
Elizabeth L. Krieg,
J. Krier,
S. Lalani,
C. Lau,
Jozef Lazar,
Brendan H. Lee,
Hane Lee,
S. Levy,
R. Lewis,
Sharyn A. Lincoln,
Allen Lipson,
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,
J. Martinez-Agosto,
S. Marwaha,
Thomas May,
A. McConkie-Rosell,
Col Mccormack,
A. McCray,
M. Might,
P. Moretti,
Marie Morimoto,
J. Mulvihill,
Jennifer Murphy,
D. Muzny,
M. Nehrebecky,
Stan F. Nelson,
J. S. Newberry,
J. Newman,
S. Nicholas,
Donna Novacic,
J. Orange,
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,
C. Reuter,
Amy K. Robertson,
Lance H Rodan,
J. Rosenfeld,
J. Sampson,
S. Samson,
K. Schoch,
M. Schroeder,
D. Scott,
Prashant Sharma,
V. Shashi,
E. Silverman,
J. Sinsheimer,
Kevin S. Smith,
Rebecca C. Spillmann,
Kimberly Splinter,
J. Stoler,
N. Stong,
J. Sullivan,
D. Sweetser,
C. Tifft,
C. Toro,
Alyssa A. Tran,
Tiina K. Urv,
Z. Valivullah,
E. Vilain,
T. Vogel,
Colleen E. Wahl,
N. Walley,
C. Walsh,
P. Ward,
K. Waters,
M. Westerfield,
A. L. Wise,
L. Wolfe,
E. Worthey,
Shinya Yamamoto,
Yaping Yang,
Guoyun Yu,
Diane B. Zastrow,
Allison Zheng,
M. Snyder,
J. Merker,
S. Montgomery,
Paul G. Fisher,
R. Feichtinger,
J. Mayr,
Julie Hall,
I. Barbosa,
M. Simpson,
C. Deshpande,
K. Waters,
D. Koeller,
T. Metz,
A. Morris,
S. Schelley,
T. Cowan,
Marisa W Friederich,
R. Mcfarland,
J. V. Van Hove,
G. Enns,
Shinya Yamamoto,
E. Ashley,
M. Wangler,
R. Taylor,
H. Bellen,
Jonathan A. Bernstein,
M. Wheeler
|
6 |
2018 |
6
🐜
|
|
🐜
|
Sex-Specific Effects of Testosterone on the Sexually Dimorphic Transcriptome and Epigenome of Embryonic Neural Stem/Progenitor Cells
11 auth.
M. Bramble,
Lara Roach,
Allen Lipson,
Neerja Vashist,
Ascia Eskin,
Tuck C. Ngun,
...
Jason E. Gosschalk,
Steven D. Klein,
H. Barseghyan,
Valerie A. Arboleda,
E. Vilain
|
5 |
2016 |
5
🐜
|
|
🐬
|
Effects of chromosomal sex and hormonal influences on shaping sex differences in brain and behavior: Lessons from cases of disorders of sex development
M. Bramble,
Allen Lipson,
Neerja Vashist,
E. Vilain
|
4 |
2017 |
4
🐬
|
|
🐜
|
Characteristics of undiagnosed diseases network applicants: implications for referring providers
198 auth.
N. Walley,
Loren D. M. Pena,
S. Hooper,
H. Cope,
Yong-hui Jiang,
A. McConkie-Rosell,
Camilla Sanders,
K. Schoch,
Rebecca C. Spillmann,
K. Strong,
A. McCray,
P. Mazur,
Cecilia Esteves,
Kimberly Leblanc,
D. Adams,
...
Mercedes E. Alejandro,
P. Allard,
E. Ashley,
M. Azamian,
C. Bacino,
A. Balasubramanyam,
H. Barseghyan,
Gabriel F. Batzli,
A. Beggs,
H. Bellen,
J. Bernstein,
A. Bican,
D. Bick,
Camille L. Birch,
D. Bonner,
B. Boone,
Bret L. Bostwick,
Lauren C Briere,
Donna M. Brown,
Matthew H. Brush,
Elizabeth A Burke,
L. Burrage,
Shan Chen,
G. Clark,
T. Coakley,
J. Cogan,
Cynthia M. Cooper,
H. Cope,
W. Craigen,
Precilla D’Souza,
M. Davids,
Jean M. Davidson,
J. Dayal,
E. C. Dell’Angelica,
S. Dhar,
Ani Dillon,
K. Dipple,
Laurel A. Donnell-Fink,
N. Dorrani,
Daniel C. Dorset,
E. Douine,
David D. Draper,
Annika M. Dries,
D. Eckstein,
Lisa T. Emrick,
C. Eng,
G. Enns,
Ascia Eskin,
Cecilia Esteves,
Tyra Estwick,
Liliana Fernandez,
P. Fisher,
B. Fogel,
Noah D. Friedman,
W. Gahl,
Emily Glanton,
Rena A. Godfrey,
D. Goldstein,
Sarah E. Gould,
J. Gourdine,
C. Groden,
A. Gropman,
M. Haendel,
R. Hamid,
N. Hanchard,
Lori H. Handley,
Matthew R. Herzog,
I. Holm,
J. Hom,
Ellen M. Howerton,
Yong Huang,
H. Jacob,
Mahim Jain,
Yongjie Jiang,
Jean M. Johnston,
Angela L. Jones,
D. Koeller,
I. Kohane,
J. Kohler,
D. Krasnewich,
Elizabeth L. Krieg,
J. Krier,
J. Kyle,
S. Lalani,
C. Christopher Lau,
Jozef Lazar,
Brendan H. Lee,
Hane Lee,
S. Levy,
R. Lewis,
Sharyn A. Lincoln,
Allen Lipson,
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,
J. Martinez-Agosto,
S. Marwaha,
Thomas May,
A. McConkie-Rosell,
Col Mccormack,
A. McCray,
J. Merker,
T. Metz,
M. Might,
P. Moretti,
J. Mulvihill,
Jennifer Murphy,
D. Muzny,
M. Nehrebecky,
S. Nelson,
J. Scott Newberry,
J. Newman,
S. Nicholas,
Donna Novacic,
J. Orange,
J. Carl Pallais,
C. Palmer,
J. Papp,
Neil H. Parker,
Loren D M Pena,
J. Phillips,
J. Posey,
J. Postlethwait,
L. Potocki,
Barbara N. Pusey,
C. Reuter,
Amy K. Robertson,
Lance H Rodan,
J. Rosenfeld,
J. Sampson,
S. Samson,
K. Schoch,
M. Schroeder,
D. Scott,
Prashant Sharma,
V. Shashi,
E. Silverman,
J. Sinsheimer,
Kevin S. Smith,
A. Soldatos,
Rebecca C. Spillmann,
Kimberly Leblanc,
J. Stoler,
N. Stong,
J. Sullivan,
D. Sweetser,
C. Tifft,
C. Toro,
Alyssa A. Tran,
Tiina K. Urv,
Z. Valivullah,
E. Vilain,
T. Vogel,
Daryl Waggott,
Colleen E. Wahl,
N. Walley,
C. Walsh,
M. Wangler,
P. Ward,
K. Waters,
B. Webb-Robertson,
M. Westerfield,
M. Wheeler,
A. L. Wise,
L. Wolfe,
E. Worthey,
Shinya Yamamoto,
Yaping Yang,
Guoyun Yu,
Diane B. Zastrow,
Chunli Zhao,
Allison Zheng,
A. L. Wise,
V. Shashi
|
4 |
2018 |
4
🐜
|
|
🐜
|
Pan-Filovirus Serum Neutralizing Antibodies in a Subset of Congolese Ebolavirus Infection Survivors
30 auth.
M. Bramble,
N. Hoff,
P. Gilchuk,
Patrick K. Mukadi,
Kai Lu,
R. Doshi,
Imke Steffen,
B. Nicholson,
Allen Lipson,
Neerja Vashist,
Cyrus Sinai,
D’Andre Spencer,
Garrard Olinger,
E. O. Wemakoy,
Benoit Kebela Illunga,
...
James Pettitt,
James Logue,
Jonathan Marchand,
J. Varughese,
R. S. Bennett,
P. Jahrling,
G. Cavet,
T. Serafini,
Erica Ollmann Saphire,
E. Vilain,
J. Muyembe-Tamfum,
Lisa E Hensely,
G. Simmons,
J. Crowe,
A. Rimoin
|
4 |
2018 |
4
🐜
|
