🐜
|
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 🐜
|
🐬
|
METFORMIN USE IS ASSOCIATED WITH REDUCED MORTALITY IN A DIVERSE POPULATION WITH COVID-19 AND DIABETES
A. Crouse,
T. Grimes,
Peng Li,
M. Might,
F. Ovalle,
A. Shalev
|
6 |
2020 |
6 🐬
|
🐜
|
De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia.
270 auth.
O. Kanca,
Jonathan C. Andrews,
Pei-Tseng Lee,
C. Patel,
S. Braddock,
Stephen R. Braddock,
A. Slavotinek,
Julie S. Cohen,
Cynthia S. Gubbels,
K. Aldinger,
Judy Williams,
Maanasa Indaram,
A. Fatemi,
T. Yu,
Pankaj B. Agrawal,
...
G. Vezina,
Cas Simons,
J. Crawford,
C. Lau,
Maria T. Acosta,
D. Adams,
Pankaj B. Agrawal,
Mercedes E. Alejandro,
Patrick Allard,
J. Alvey,
A. Andrews,
Euan A. Ashley,
M. Azamian,
C. Bacino,
G. Bademci,
Eva Baker,
A. Balasubramanyam,
Dustin Baldridge,
Jim Bale,
D. Barbouth,
Gabriel F. Batzli,
P. Bayrak-Toydemir,
A. Beggs,
G. Bejerano,
H. Bellen,
Jonathan A. Bernstein,
Gerard T. Berry,
A. Bican,
D. Bick,
Camille L. Birch,
Stephanie A Bivona,
J. Bohnsack,
Carsten Bonnenmann,
D. Bonner,
B. Boone,
Bret L. Bostwick,
L. Botto,
Lauren C Briere,
Elly Brokamp,
Donna M. Brown,
Matthew H. Brush,
Elizabeth A Burke,
Lindsay C Burrage,
M. Butte,
J. Carey,
O. Carrasquillo,
Ta Chen Peter Chang,
Hsiao-Tuan Chao,
G. Clark,
T. Coakley,
Laurel A. Cobban,
J. Cogan,
F. Cole,
H. Colley,
Cynthia M. Cooper,
H. Cope,
W. Craigen,
Precilla D’Souza,
Surendra Dasari,
M. Davids,
J. Dayal,
E. C. Dell’Angelica,
S. Dhar,
N. Dorrani,
Daniel C. Dorset,
E. Douine,
David D. Draper,
Laura Duncan,
D. Eckstein,
Lisa T. Emrick,
C. Eng,
Cecilia Esteves,
Tyra Estwick,
Liliana Fernandez,
Carlos R. Ferreira,
Elizabeth Fieg,
Paul G Fisher,
B. L. Fogel,
I. Forghani,
Laure Frésard,
W. Gahl,
Rena A. Godfrey,
A. Goldman,
D. Goldstein,
J. Gourdine,
A. Grajewski,
C. Groden,
A. Gropman,
M. Haendel,
Rizwana Hamid,
N. Hanchard,
Nichole Hayes,
F. High,
I. Holm,
J. Hom,
Alden Huang,
Yong Huang,
Rosario Isasi,
Fariha Jamal,
Yongjie Jiang,
Jean M. Johnston,
Angela L. Jones,
L. Karaviti,
Emily G. Kelley,
Dana Kiley,
D. Koeller,
I. Kohane,
J. Kohler,
D. Krakow,
D. Krasnewich,
S. Korrick,
Mary E. Koziura,
J. Krier,
J. Kyle,
S. Lalani,
Byron L. Lam,
Brendan C Lanpher,
Ian R. Lanza,
J. Lazar,
Kimberly Leblanc,
Brendan Lee,
Hane Lee,
Roy Levitt,
Shawn Levy,
R. Lewis,
Sharyn A. Lincoln,
Pengfei Liu,
X. Z. Liu,
Nicola Longo,
Sandra K. Loo,
Joseph Loscalzo,
R. Maas,
Ellen F. Macnamara,
C. Macrae,
Valerie V. Maduro,
Marta M. Majcherska,
M. Malicdan,
L. Mamounas,
T. Manolio,
Rong Mao,
T. Markello,
Ronit Marom,
Gabor T. Marth,
B. Martin,
Martin G. Martin,
J. Martinez-Agosto,
S. Marwaha,
Thomas May,
J. McCauley,
A. McConkie-Rosell,
Col Mccormack,
A. McCray,
Thomas O. Metz,
M. Might,
Eva Morava-Kozicz,
Paolo M. Moretti,
Marie Morimoto,
John J. Mulvihill,
David R. Murdock,
A. Nath,
Stan F. Nelson,
J. S. Newberry,
J. Newman,
S. Nicholas,
Donna Novacic,
D. Oglesbee,
James P. Orengo,
Laura Pace,
Stephen C Pak,
J. C. Pallais,
Christina G.S. Palmer,
J. Papp,
Neil H. Parker,
John Arul Phillips,
J. Posey,
J. Postlethwait,
L. Potocki,
Barbara N. Pusey,
A. Quinlan,
A. Raja,
Genecee Renteria,
C. Reuter,
Lynette C Rives,
Amy K. Robertson,
Lance H Rodan,
J. Rosenfeld,
R. Rowley,
M. Ruzhnikov,
R. Sacco,
J. Sampson,
Susan L. Samson,
M. Saporta,
J. Schaechter,
Timothy Schedl,
K. Schoch,
D. Scott,
Lisa Shakachite,
Prashant Sharma,
V. Shashi,
K. Shields,
Jimann Shin,
Rebecca H. Signer,
Catherine H. Sillari,
Edwin K. Silverman,
J. Sinsheimer,
Kathy Sisco,
Kevin Scott Smith,
L. Solnica-Krezel,
Rebecca C. Spillmann,
J. Stoler,
N. Stong,
J. Sullivan,
S. Sutton,
D. Sweetser,
H. Tabor,
Cecelia P. Tamburro,
Q. Tan,
M. Tekin,
Fred F. Telischi,
Willa L Thorson,
C. Tifft,
C. Toro,
Alyssa A. Tran,
Tiina K. Urv,
Matt Velinder,
Dave Viskochil,
T. Vogel,
Colleen E. Wahl,
N. Walley,
Christopher A. Walsh,
M. Walker,
J. Wambach,
Jijun Wan,
Lee-Kai Wang,
M. Wangler,
P. Ward,
Katrina M. Waters,
B. Webb-Robertson,
D. Wegner,
M. Westerfield,
M. Wheeler,
A. L. Wise,
L. Wolfe,
Jeremy D Woods,
E. Worthey,
Shinya Yamamoto,
John Yang,
A. Yoon,
Guoyun Yu,
Diane B. Zastrow,
Chunli Zhao,
S. Züchner,
W. Chung,
W. B. Dobyns,
W. B. Dobyns
|
5 |
2019 |
5 🐜
|
🐜
|
TMEM161B regulates cerebral cortical gyration, Sonic Hedgehog signaling, and ciliary structure in the developing central nervous system
238 auth.
Shyam K. Akula,
Jack H. Marciano,
Youngshin Lim,
David Exposito-Alonso,
Norma K. Hylton,
Grace H. Hwang,
Jennifer E. Neil,
Nicole Dominado,
R. Bunton-Stasyshyn,
J. Song,
Maya Talukdar,
A. Schmid,
L. Teboul,
Alisa Mo,
Taehwan Shin,
...
Benjamin Finander,
Samantha G. Beck,
Rebecca C. Yeh,
Aoi Otani,
Xuyu Qian,
Ellen M. DeGennaro,
F. Alkuraya,
S. Maddirevula,
G. Cascino,
C. Giannini,
L. Burrage,
Jill A Rosenfield,
Shamika Ketkar,
G. Clark,
C. Bacino,
R. Lewis,
R. Segal,
J. Bazan,
Kelly A. Smith,
Jeffrey A. Golden,
Ginam Cho,
Christopher A. Walsh,
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,
Laurel A. Cobban,
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,
N. Dorrani,
Daniel C. Dorset,
J. Douglas,
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,
C. Ferreira,
Elizabeth Fieg,
P. Fisher,
B. Fogel,
Noah D. Friedman,
W. Gahl,
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,
Emily G. Kelley,
D. Koeller,
I. Kohane,
J. Kohler,
S. Korrick,
Mary Kozuira,
D. Krasnewich,
J. Krier,
J. Kyle,
S. Lalani,
C. Lau,
J. Lazar,
Kimberly Leblanc,
Brendan Lee,
Hane Lee,
Shawn E. Levy,
R. Lewis,
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,
J. Merker,
T. Metz,
M. Might,
G. Mochida,
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,
J. 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,
C. 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,
Wen‐Han Tan,
C. Tifft,
C. Toro,
Alyssa A. Tran,
Tiina K. Urv,
E. Vilain,
T. Vogel,
Daryl Waggott,
Colleen E. Wahl,
M. Walker,
N. Walley,
Jijun Wan,
M. Wangler,
P. Ward,
K. Waters,
B. Webb-Robertson,
M. Westerfield,
M. Wheeler,
A. L. Wise,
L. Wolfe,
E. Worthey,
Shinya Yamamoto,
Yaping Yang,
John Yang,
A. Yoon,
Guoyun Yu,
Diane B. Zastrow,
Chunli Zhao,
Allison Zheng
|
3 |
2023 |
3 🐜
|
🐜
|
De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia.
268 auth.
O. Kanca,
Jonathan C. Andrews,
Pei-Tseng Lee,
C. Patel,
Stephen R. Braddock,
A. Slavotinek,
Julie S. Cohen,
Cynthia S. Gubbels,
K. Aldinger,
Judy Williams,
Maanasa Indaram,
A. Fatemi,
Timothy W. Yu,
Pankaj B. Agrawal,
G. Vezina,
...
Cas Simons,
J. Crawford,
C. Lau,
Wendy K. Chung,
T. Markello,
W. B. Dobyns,
David R. Adams,
W. A. Gahl,
M. Wangler,
Shinya Yamamoto,
H. Bellen,
M. Malicdan,
Maria T. Acosta,
Pankaj B. Agrawal,
Mercedes E. Alejandro,
Patrick Allard,
J. Alvey,
A. Andrews,
Euan A. Ashley,
M. Azamian,
C. Bacino,
G. Bademci,
Eva Baker,
Ashok Balasubramanyam,
Dustin Baldridge,
Jim Bale,
D. Barbouth,
Gabriel F. Batzli,
P. Bayrak-Toydemir,
A. Beggs,
G. Bejerano,
Jonathan A Bernstein,
Gerard T. Berry,
A. Bican,
David P. Bick,
Camille L. Birch,
Stephanie A Bivona,
J. Bohnsack,
Carsten Bonnenmann,
D. Bonner,
B. Boone,
Bret L. Bostwick,
L. Botto,
Lauren C Briere,
Elly Brokamp,
Donna M. Brown,
Matthew Brush,
Elizabeth A Burke,
Lindsay C Burrage,
M. Butte,
J. Carey,
O. Carrasquillo,
Ta Chen Peter Chang,
Hsiao-Tuan Chao,
Gary D. Clark,
T. Coakley,
Laurel A. Cobban,
J. Cogan,
F. S. Cole,
H. Colley,
Cynthia M. Cooper,
H. Cope,
W. Craigen,
Precilla D’Souza,
Surendra Dasari,
M. Davids,
J. Dayal,
E. C. Dell’Angelica,
S. Dhar,
N. Dorrani,
Daniel C. Dorset,
E. Douine,
David D. Draper,
Laura Duncan,
D. Eckstein,
Lisa T. Emrick,
Christine M. Eng,
Cecilia Esteves,
Tyra Estwick,
Liliana Fernandez,
Carlos R. Ferreira,
Elizabeth Fieg,
Paul G Fisher,
B. L. Fogel,
I. Forghani,
Laure Frésard,
Rena A. Godfrey,
A. Goldman,
David B. Goldstein,
Jean-Philippe Francois Gourdine,
A. Grajewski,
C. Groden,
A. Gropman,
Melissa Haendel,
Rizwana Hamid,
N. Hanchard,
Nichole Hayes,
F. High,
I. Holm,
J. Hom,
Alden Huang,
Yong Huang,
Rosario Isasi,
Fariha Jamal,
Yongjie Jiang,
Jean M. Johnston,
Angela L. Jones,
L. Karaviti,
Emily G. Kelley,
Dana Kiley,
David M. Koeller,
I. Kohane,
J. Kohler,
Deborah Krakow,
D. Krasnewich,
S. Korrick,
Mary E. Koziura,
J. Krier,
J. Kyle,
S. Lalani,
Byron L. Lam,
Brendan C Lanpher,
Ian R. Lanza,
J. Lazar,
Kimberly Leblanc,
Brendan H. Lee,
Hane Lee,
Roy Levitt,
Shawn Levy,
R. Lewis,
Sharyn A. Lincoln,
Pengfei Liu,
X. Z. Liu,
Nicola Longo,
Sandra K. Loo,
Joseph Loscalzo,
Richard L. Maas,
Ellen F. Macnamara,
C. Macrae,
Valerie V. Maduro,
Marta M. Majcherska,
L. Mamounas,
T. Manolio,
Rong Mao,
Ronit Marom,
Gabor T. Marth,
Beth A. Martin,
Martin G. Martin,
J. Martinez-Agosto,
S. Marwaha,
Thomas May,
J. McCauley,
A. McConkie-Rosell,
Col Mccormack,
A. McCray,
Thomas O. Metz,
M. Might,
Eva Morava-Kozicz,
Paolo M. Moretti,
Marie Morimoto,
John J. Mulvihill,
David R. Murdock,
A. Nath,
Stan F. Nelson,
J. S. Newberry,
J. Newman,
Sarah K. Nicholas,
Donna Novacic,
D. Oglesbee,
James P. Orengo,
Laura Pace,
Stephen C Pak,
J. C. Pallais,
Christina G.S. Palmer,
J. Papp,
Neil H. Parker,
John A. Phillips,
J. Posey,
J. Postlethwait,
L. Potocki,
Barbara N. Pusey,
Aaron Quinlan,
A. Raja,
Genecee Renteria,
C. Reuter,
Lynette C Rives,
Amy K. Robertson,
Lance H Rodan,
Jill A. Rosenfeld,
R. Rowley,
M. Ruzhnikov,
R. Sacco,
J. Sampson,
Susan L. Samson,
M. Saporta,
J. Schaechter,
Timothy Schedl,
K. Schoch,
Daryl A. Scott,
Lisa Shakachite,
Prashant Sharma,
V. Shashi,
K. Shields,
Jimann Shin,
Rebecca H. Signer,
Catherine H. Sillari,
Edwin K. Silverman,
J. Sinsheimer,
Kathy Sisco,
Kevin Scott Smith,
L. Solnica-Krezel,
Rebecca C. Spillmann,
Joan M. Stoler,
N. Stong,
J. Sullivan,
S. Sutton,
D. Sweetser,
H. Tabor,
Cecelia P. Tamburro,
Q. Tan,
M. Tekin,
Fred F. Telischi,
Willa L Thorson,
C. Tifft,
C. Toro,
Alyssa A. Tran,
Tiina K. Urv,
Matt Velinder,
Dave Viskochil,
Tiphanie P Vogel,
Colleen E. Wahl,
N. Walley,
C. Walsh,
Melissa Walker,
J. Wambach,
Jijun Wan,
Lee-Kai Wang,
Patricia A. Ward,
Katrina M. Waters,
B. Webb-Robertson,
D. Wegner,
M. Westerfield,
M. Wheeler,
A. L. Wise,
L. Wolfe,
Jeremy D Woods,
E. Worthey,
John Yang,
A. Yoon,
Guoyun Yu,
Diane B. Zastrow,
Chunli Zhao,
S. Zuchner
|
3 |
2019 |
3 🐜
|
🐜
|
VarSight: prioritizing clinically reported variants with binary classification algorithms
279 auth.
James M. Holt,
Brandon M Wilk,
Camille L. Birch,
Donna M. Brown,
M. Gajapathy,
Alexander C. Moss,
Nadiya Sosonkina,
Melissa A. Wilk,
Julie A. Anderson,
Jeremy M. Harris,
Jacob M. Kelly,
Fariba Shaterferdosian,
Angelina E. Uno-Antonison,
Arthur Weborg,
Maria T. Acosta,
...
Margaret P. Adam,
David R. Adams,
Pankaj B. Agrawal,
Mercedes E. Alejandro,
Patrick Allard,
J. Alvey,
L. Amendola,
A. Andrews,
Euan A. Ashley,
M. Azamian,
C. Bacino,
G. Bademci,
Eva Baker,
Ashok Balasubramanyam,
Dustin Baldridge,
Jim Bale,
Michael Bamshad,
D. Barbouth,
Gabriel F. Batzli,
P. Bayrak-Toydemir,
Anita Beck,
A. Beggs,
G. Bejerano,
H. Bellen,
J. Bennet,
Beverly Berg-Rood,
Raphael Bernier,
Jonathan A Bernstein,
Gerard T. Berry,
A. Bican,
Stephanie A Bivona,
Elizabeth E. Blue,
J. Bohnsack,
Carsten Bonnenmann,
D. Bonner,
L. Botto,
Lauren C Briere,
Elly Brokamp,
Elizabeth A Burke,
Lindsay C Burrage,
M. Butte,
Peter Byers,
J. Carey,
O. Carrasquillo,
Ta Chen Peter Chang,
S. Chanprasert,
Hsiao-Tuan Chao,
Gary D. Clark,
T. Coakley,
Laurel A. Cobban,
Joy D. Cogan,
F. S. Cole,
H. Colley,
Cynthia M. Cooper,
H. Cope,
W. Craigen,
Michael Cunningham,
Precilla D’Souza,
Hongzheng Dai,
Surendra Dasari,
M. Davids,
J. Dayal,
E. C. Dell’Angelica,
S. Dhar,
Katrina M. Dipple,
Dan Doherty,
N. Dorrani,
E. Douine,
David D. Draper,
Laura Duncan,
D. Earl,
D. Eckstein,
Lisa T. Emrick,
Christine M. Eng,
Cecilia Esteves,
Tyra Estwick,
Liliana Fernandez,
Carlos R. Ferreira,
Elizabeth Fieg,
Paul G Fisher,
B. L. Fogel,
I. Forghani,
Laure Frésard,
William Gahl,
Ian A. Glass,
Rena A. Godfrey,
Katie Golden-Grant,
A. Goldman,
David B. Goldstein,
A. Grajewski,
C. Groden,
A. Gropman,
S. Hahn,
Rizwana Hamid,
Neal Hanchard,
Nichole Hayes,
Frances High,
A. Hing,
F. Hisama,
Ingrid A. Holm,
J. Hom,
M. Horike‐Pyne,
Alden Huang,
Yong Huang,
Rosario Isasi,
Fariha Jamal,
Gail P. Jarvik,
J. Jarvik,
S. Jayadev,
Yongjie Jiang,
Jean M. Johnston,
L. Karaviti,
Emily G. Kelley,
Dana Kiley,
Isaac S. Kohane,
J. Kohler,
Deborah Krakow,
D. Krasnewich,
Susan Korrick,
Mary E. Koziura,
J. Krier,
S. Lalani,
Byron L. Lam,
Christina Lam,
Brendan C Lanpher,
Ian R. Lanza,
C. Lau,
Kimberly Leblanc,
Brendan H. Lee,
Hane Lee,
Roy Levitt,
R. Lewis,
Sharyn A. Lincoln,
Pengfei Liu,
X. Z. Liu,
Nicola Longo,
Sandra K. Loo,
Joseph Loscalzo,
Richard L. Maas,
Ellen F. Macnamara,
C. Macrae,
Valerie V. Maduro,
Marta M. Majcherska,
M. Malicdan,
L. Mamounas,
T. Manolio,
Rong Mao,
K. Maravilla,
T. Markello,
Ronit Marom,
Gabor T. Marth,
Beth A. Martin,
Martin G. Martin,
J. Martinez-Agosto,
S. Marwaha,
J. McCauley,
A. McConkie-Rosell,
Col Mccormack,
Alexa T McCray,
H. Mefford,
J. L. Merritt,
M. Might,
G. Mirzaa,
Eva Morava-Kozicz,
Paolo M. Moretti,
Marie Morimoto,
John J. Mulvihill,
David R. Murdock,
A. Nath,
Stan F. Nelson,
J. Newman,
Sarah K. Nicholas,
Deborah A. Nickerson,
Donna Novacic,
D. Oglesbee,
James P. Orengo,
Laura Pace,
Stephen C Pak,
J. C. Pallais,
Christina G.S. Palmer,
J. Papp,
Neil H. Parker,
John A. Phillips III,
J. Posey,
John H. Postlethwait,
L. Potocki,
Barbara N. Pusey,
Aaron Quinlan,
Wendy Raskind,
A. Raja,
Genecee Renteria,
C. Reuter,
Lynette C Rives,
Amy K. Robertson,
Lance H Rodan,
Jill A. Rosenfeld,
R. Rowley,
M. Ruzhnikov,
R. Sacco,
J. Sampson,
Susan L. Samson,
M. Saporta,
C. R. Scott,
J. Schaechter,
Timothy Schedl,
K. Schoch,
Daryl A. Scott,
Lisa Shakachite,
Prashant Sharma,
V. Shashi,
Jimann Shin,
Rebecca H. Signer,
Catherine H. Sillari,
Edwin K. Silverman,
J. Sinsheimer,
Kathy Sisco,
Kevin Scott Smith,
L. Solnica-Krezel,
Rebecca C. Spillmann,
Joan M. Stoler,
N. Stong,
J. Sullivan,
Angela Sun,
S. Sutton,
D. Sweetser,
Virginia Sybert,
H. Tabor,
Cecelia P. Tamburro,
Q. Tan,
M. Tekin,
Fred F. Telischi,
Willa L Thorson,
C. Tifft,
Camilo Toro,
Alyssa A. Tran,
Tiina K. Urv,
Matt Velinder,
Dave Viskochil,
Tiphanie P Vogel,
Colleen E. Wahl,
Stephanie Wallace,
N. Walley,
C. Walsh,
Melissa Walker,
Jennifer A. Wambach,
Jijun Wan,
Lee-Kai Wang,
M. Wangler,
Patricia A. Ward,
D. Wegner,
Mark Wener,
M. Westerfield,
M. Wheeler,
A. L. Wise,
L. Wolfe,
Jeremy D Woods,
Shinya Yamamoto,
John Yang,
A. Yoon,
Guoyun Yu,
Diane B. Zastrow,
Chunli Zhao,
S. Zuchner,
E. Worthey
|
3 |
2019 |
3 🐜
|
🐜
|
HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder.
346 auth.
Eva Niggl,
A. Bouman,
Lauren C Briere,
R. Hoogenboezem,
Ilse Wallaard,
Joohyun Park,
J. Admard,
M. Wilke,
Emilio D.R.O. Harris-Mostert,
Minetta Elgersma,
J. Bain,
M. Balasubramanian,
S. Banka,
P. Benke,
Miriam Bertrand,
...
Alyssa Blesson,
J. Clayton-Smith,
J. Ellingford,
Madelyn A. Gillentine,
Dana H. Goodloe,
T. Haack,
Mahim Jain,
I. Krantz,
Sharon M Luu,
Molly A McPheron,
Candace Muss,
S. Raible,
N. Robin,
Michael Spiller,
S. Starling,
D. Sweetser,
I. Thiffault,
Francesco Vetrini,
Dennis Witt,
Emily Woods,
Dihong Zhou,
Y. Elgersma,
Annelot C. M. van Esbroeck,
J. Ambrose,
P. Arumugam,
R. Bevers,
M. Bleda,
F. Boardman-Pretty,
C. Boustred,
H. Brittain,
M. A. Brown,
M. Caulfield,
G. Chan,
A. Giess,
J. Griffin,
A. Hamblin,
S. Henderson,
T. Hubbard,
R. Jackson,
L. J. Jones,
D. Kasperaviciute,
M. Kayikci,
A. Kousathanas,
L. Lahnstein,
A. Lakey,
S. Leigh,
I. Leong,
F. J. Lopez,
F. Maleady-Crowe,
M. McEntagart,
F. Minneci,
J. Mitchell,
L. Moutsianas,
M. Mueller,
N. Murugaesu,
A. Need,
P. O’Donovan,
C. Odhams,
C. Patch,
D. Perez-Gil,
M. Pereira,
J. Pullinger,
T. Rahim,
A. Rendon,
T. Rogers,
K. Savage,
K. Sawant,
R. Scott,
A. Siddiq,
A. Sieghart,
S. C. Smith,
A. Sosinsky,
A. Stuckey,
M. Tanguy,
A. L. Taylor Tavares,
E. Thomas,
S. Thompson,
A. Tucci,
M. Welland,
E. Williams,
K. Witkowska,
S. Wood,
M. Zarowiecki,
M. Acosta,
D. Adams,
Raquel L. Alvarez,
J. Alvey,
Aimee Allworth,
A. Andrews,
Euan A. Ashley,
B. Afzali,
C. Bacino,
G. Bademci,
A. Balasubramanyam,
Dustin Baldridge,
Jim Bale,
M. Bamshad,
D. Barbouth,
P. Bayrak-Toydemir,
A. Beck,
A. Beggs,
Edward Behrens,
G. Bejerano,
H. Bellen,
J. Bennet,
Jonathan A. Bernstein,
Gerard T. Berry,
A. Bican,
Stephanie A Bivona,
Elizabeth E. Blue,
J. Bohnsack,
D. Bonner,
L. Botto,
Gabrielle Brown,
Elizabeth A Burke,
L. Burrage,
M. Butte,
Peter Byers,
William E. Byrd,
J. Carey,
O. Carrasquillo,
T. Cassini,
Ta Chen Peter Chang,
S. Chanprasert,
Hsiao-Tuan Chao,
Ivan K. Chinn,
G. Clark,
T. Coakley,
Laurel A. Cobban,
J. Cogan,
M. Coggins,
F. Cole,
H. Colley,
H. Cope,
Rosario I. Corona,
W. Craigen,
A. Crouse,
Michael Cunningham,
Precilla D’Souza,
Hongzheng Dai,
Surendra Dasari,
Joie N. Davis,
J. Dayal,
Margaret Delgado,
E. C. Dell’Angelica,
K. Dipple,
Dan Doherty,
N. Dorrani,
A. Doss,
E. Douine,
D. Earl,
D. Eckstein,
Lisa T. Emrick,
C. Eng,
Marni J. Falk,
Elizabeth Fieg,
P. Fisher,
B. Fogel,
I. Forghani,
Jiayu Fu,
W. Gahl,
I. Glass,
Pagé C. Goddard,
Rena A. Godfrey,
A. Grajewski,
M. Halley,
Rizwana Hamid,
N. Hanchard,
Kelly Hassey,
Nichole Hayes,
F. High,
A. Hing,
F. Hisama,
I. Holm,
J. Hom,
M. Horike‐Pyne,
Alden Huang,
Yan Huang,
Sally Hutchison,
W. Introne,
Rosario Isasi,
K. Izumi,
G. Jarvik,
J. Jarvik,
S. Jayadev,
Orpa Jean-Marie,
V. Jobanputra,
Emerald Kaitryn,
Shamika Ketkar,
Dana Kiley,
Gonench Kilich,
S. Kobren,
I. Kohane,
J. Kohler,
S. Korrick,
D. Krakow,
D. Krasnewich,
Elijah Kravets,
S. Lalani,
Byron L. Lam,
Christina Lam,
Brendan C Lanpher,
Ian R. Lanza,
Kimberly Leblanc,
Brendan Lee,
R. Levitt,
R. Lewis,
Pengfei Liu,
X. Z. Liu,
N. Longo,
S. Loo,
J. Loscalzo,
R. Maas,
Ellen F. Macnamara,
C. Macrae,
Valerie V. Maduro,
A. Maghiro,
R. Mahoney,
M. Malicdan,
L. Mamounas,
T. Manolio,
Rong Mao,
Ronit Marom,
Gabor T. Marth,
B. Martin,
Martin G. Martin,
J. Martinez-Agosto,
S. Marwaha,
J. McCauley,
A. McConkie-Rosell,
A. McCray,
E. McGee,
M. Might,
Danny E. Miller,
G. Mirzaa,
E. Morava,
P. Moretti,
Marie Morimoto,
J. Mulvihill,
Mariko Nakano-Okuno,
Stan F. Nelson,
S. Nieves-Rodriguez,
Donna Novacic,
D. Oglesbee,
James P. Orengo,
Laura Pace,
Stephen C Pak,
J. C. Pallais,
J. Papp,
Neil H. Parker,
Leoyklang Petcharet,
J. Phillips,
J. Posey,
L. Potocki,
B. N. Swerdzewski,
A. Quinlan,
Deepak A. Rao,
A. Raper,
W. Raskind,
Genecee Renteria,
C. Reuter,
Lynette C Rives,
Amy K. Robertson,
Lance H Rodan,
J. Rosenfeld,
Elizabeth Rosenthal,
Francis Rossignol,
M. Ruzhnikov,
Marla Sabaii,
R. Sacco,
J. Sampson,
M. Saporta,
J. Schaechter,
Timothy Schedl,
K. Schoch,
D. Scott,
Elaine S. Seto,
Prashant Sharma,
V. Shashi,
Emily Shelkowitz,
Sam Sheppeard,
Jimann Shin,
E. Silverman,
J. Sinsheimer,
Kathy Sisco,
Edward C. Smith,
Kevin Scott Smith,
L. Solnica-Krezel,
Ben Solomon,
Rebecca C. Spillmann,
A. Stergachis,
J. Stoler,
Kathleen E Sullivan,
J. Sullivan,
S. Sutton,
V. Sybert,
H. Tabor,
Q. Tan,
Amelia L. M. Tan,
Arjun Tarakad,
M. Tekin,
F. Telischi,
Willa L Thorson,
C. Tifft,
C. Toro,
Alyssa A. Tran,
Rachel A. Ungar,
Tiina K. Urv,
A. Vanderver,
Matt Velinder,
D. Viskochil,
T. Vogel,
Colleen E. Wahl,
M. Walker,
N. Walley,
J. Wambach,
Jijun Wan,
Lee-Kai Wang,
M. Wangler,
P. Ward,
D. Wegner,
Monika Weisz,
M. Wener,
Tara Wenger,
M. Westerfield,
M. Wheeler,
Jordan H. Whitlock,
L. Wolfe,
Shinya Yamamoto,
Zhe Zhang,
S. Zuchner
|
3 |
2023 |
3 🐜
|
🐜
|
Characteristics and determinants of pulmonary long COVID
12 auth.
M. Patton,
Donald Benson,
Sarah W. Robison,
Raval Dhaval,
Morgan L Locy,
Kinner Patel,
...
Scott Grumley,
Emily B Levitan,
Peter Morris,
M. Might,
Amit Gaggar,
Nathaniel Erdmann
|
2 |
2024 |
2 🐜
|