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De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome
119 auth.
Yuyang Chen,
R. Dawes,
Hyung Chul Kim,
A. Ljungdahl,
S. Stenton,
Susan Walker,
Jenny Lord,
G. Lemire,
Alexandra C Martin-Geary,
Vijay S Ganesh,
Jialan Ma,
J. Ellingford,
E. Delage,
Elston N. D’Souza,
Shan Dong,
...
David R Adams,
Kirsten Allan,
Madhura Bakshi,
Erin E Baldwin,
S. Berger,
Jonathan A Bernstein,
Ishita Bhatnagar,
E. Blair,
Natasha J Brown,
Lindsay C Burrage,
Kimberly Chapman,
David J Coman,
A. Compton,
C. Cunningham,
Precilla D’Souza,
P. Danecek,
Emmanuèle C. Délot,
Kerith-Rae Dias,
Ellen R Elias,
F. Elmslie,
Carey-Anne Evans,
Lisa J Ewans,
Kimberly M Ezell,
Jamie L Fraser,
L. Gallacher,
C. Genetti,
A. Goriely,
Christina L Grant,
Tobias B Haack,
Jenny Higgs,
A. Hinch,
M. Hurles,
Alma Kuechler,
Katherine L Lachlan,
S. Lalani,
F. Lecoquierre,
E. Leitão,
A. L. Fevre,
R. Leventer,
J. Liebelt,
S. Lindsay,
Paul J Lockhart,
Alan S Ma,
Ellen F. Macnamara,
Sahar Mansour,
Taylor M Maurer,
Hector R Mendez,
Kay Metcalfe,
Stephen B. Montgomery,
M. Moosajee,
M. Nassogne,
Serena Neumann,
Michael O'Donoghue,
Melanie O'Leary,
E. Palmer,
N. Pattani,
John Phillips,
Georgia Pitsava,
Ryan Pysar,
Heidi L. Rehm,
Chloe M Reuter,
N. Revencu,
A. Riess,
Rocio Rius,
Lance Rodan,
T. Roscioli,
Jill A. Rosenfeld,
R. Sachdev,
C. Shaw-Smith,
Cas Simons,
S. Sisodiya,
Penny Snell,
Laura St Clair,
Zornitza Stark,
Helen Stewart,
T. Tan,
Natalie B. Tan,
Suzanna E L Temple,
D. Thorburn,
C. Tifft,
E. Uebergang,
G. VanNoy,
Pradeep Vasudevan,
Eric Vilain,
D. Viskochil,
L. Wedd,
M. Wheeler,
Susan M. White,
Monica Wojcik,
Lynne A Wolfe,
Zoe Wolfenson,
Caroline F Wright,
Changrui Xiao,
David Zocche,
J. L. Rubenstein,
Eirene Markenscoff-Papadimitriou,
S. Fica,
D. Baralle,
C. Depienne,
D. MacArthur,
Joanna M M Howson,
Stephan J. Sanders,
A. O’Donnell-Luria,
N. Whiffin
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4 |
2024 |
4
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De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders
97 auth.
Yuyang Chen,
R. Dawes,
Hyung Chul Kim,
S. Stenton,
Susan Walker,
A. Ljungdahl,
Jenny Lord,
Vijay S Ganesh,
Jialan Ma,
Alexandra C Martin-Geary,
G. Lemire,
Elston N. D’Souza,
Shan Dong,
J. Ellingford,
David R Adams,
...
Kirsten Allan,
Madhura Bakshi,
Erin E Baldwin,
S. Berger,
Jonathan A Bernstein,
Natasha J Brown,
Lindsay C Burrage,
Kimberly Chapman,
A. Compton,
C. Cunningham,
Precilla D’Souza,
Emmanuèle C. Délot,
Kerith-Rae Dias,
Ellen R Elias,
Carey-Anne Evans,
Lisa J Ewans,
Kimberly M Ezell,
Jamie L Fraser,
L. Gallacher,
C. Genetti,
Christina L Grant,
Tobias B Haack,
Alma Kuechler,
S. Lalani,
E. Leitão,
A. L. Fevre,
R. Leventer,
J. Liebelt,
Paul J. Lockhart,
Alan S Ma,
Ellen F. Macnamara,
Taylor M Maurer,
Hector R Mendez,
Stephen B. Montgomery,
M. Nassogne,
Serena Neumann,
Melanie O'Leary,
Elizabeth E. Palmer,
John Phillips,
Georgia Pitsava,
Ryan Pysar,
Heidi L. Rehm,
Chloe M Reuter,
N. Revencu,
A. Riess,
Rocio Rius,
Lance Rodan,
T. Roscioli,
Jill A. Rosenfeld,
R. Sachdev,
Cas Simons,
S. Sisodiya,
Penny Snell,
Laura St Clair,
Zornitza Stark,
Yang Tan,
Natalie B. Tan,
Suzanna E L Temple,
David R. Thorburn,
Cynthia J Tifft,
E. Uebergang,
G. VanNoy,
E. Vilain,
D. Viskochil,
L. Wedd,
M. Wheeler,
Susan M. White,
Monica Wojcik,
Lynne A Wolfe,
Zoe Wolfenson,
Changrui Xiao,
David Zocche,
J. L. Rubenstein,
Eirene Markenscoff-Papadimitriou,
S. Fica,
D. Baralle,
C. Depienne,
D. MacArthur,
Joanna M M Howson,
Stephan J Sanders,
A. O’Donnell-Luria,
N. Whiffin
|
3 |
2024 |
3
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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,
Stephanie P. DiTroia,
Siwaar Abouhala,
Jessica Albert,
M. Almalvez,
Raquel Alvarez,
Mutaz Amin,
Peter Anderson,
...
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,
Elizabeth E. Blue,
E. Boerwinkle,
Emily S. Bonkowski,
D. Bonner,
Philip M. Boone,
Miriam Bornhorst,
Harrison Brand,
K. Buckingham,
D. Calame,
Jennefer N Carter,
Silvia Casadei,
Lisa Chadwick,
Clarisa Chavez,
Ziwei Chen,
Ivan Chinn,
Jessica X. Chong,
Z. Coban-Akdemir,
Andrea J. Cohen,
Sarah Conner,
M. Conomos,
K. Coveler,
Ya Allen Cui,
Sara Currin,
R. Daber,
Z. Dardas,
Colleen Davis,
Moez Dawood,
Ivan de Dios,
C. D. de Esch,
Meghan Delaney,
Emmanuèle C. Délot,
Harsha Doddapaneni,
Haowei Du,
Ruizhi Duan,
Shannon Dugan-Perez,
Nhat Duong,
Michael Duyzend,
Evan E. Eichler,
Sara Emami,
Jamie Fraser,
Vincent Fusaro,
M. Galey,
Vijay S Ganesh,
Brandon Garcia,
K. Garimella,
Richard A Gibbs,
Casey Gifford,
Amy-Sarah Ginsburg,
Pagé C. Goddard,
S. Gogarten,
N. Gogate,
William Gordon,
J. Gorzynski,
William J. Greenleaf,
Christopher M. Grochowski,
E. Groopman,
Rodrigo Guarischi Sousa,
Sanna Gudmundsson,
Ashima Gulati,
S. Hall,
William T. Harvey,
Megan H. Hawley,
Benjamin D. Heavner,
M. Horike‐Pyne,
Jianhong Hu,
Yongqing Huang,
J. Hwang,
Gail P Jarvik,
Tanner D. Jensen,
S. Jhangiani,
D. Jimenez-Morales,
Christopher Jin,
Ahmed K Saad,
Amanda H. Kahn-Kirby,
Jessica Kain,
Parneet Kaur,
Laura Keehan,
Susan Knoblach,
Arthur Ko,
A. Kundaje,
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,
N. Malani,
B. Mangilog,
Dana Marafi,
Sofia Marmolejos,
Daniel Marten,
Eva Martinez,
Colby T. Marvin,
S. Marwaha,
Francesco Kumara Mastrorosa,
D. Matalon,
Susanne May,
Sean R Mcgee,
Lauren Meador,
H. Mefford,
Hector R Mendez,
Alexander Miller,
Danny E. Miller,
Tadahiro Mitani,
Stephen B. Montgomery,
Mariana Moyses,
Chloe Munderloh,
D. Muzny,
Sarah Nelson,
Thuy-mi P. Nguyen,
Jonathan V Nguyen,
Robert Nussbaum,
Keith Nykamp,
William D. O'Callaghan,
Emily O’Heir,
Melanie O'Leary,
Jeren Olsen,
I. Osei-Owusu,
A. O’Donnell-Luria,
Evin M. Padhi,
Lynn Pais,
Miao Pan,
Piyush Panchal,
Karynne E. Patterson,
Sheryl Payne,
D. Pehlivan,
Paul Petrowski,
Alicia Pham,
Georgia Pitsava,
Astaria Sara Podesta,
Sarah Ponce,
Elizabeth Porter,
Jennifer Posey,
Jaime Prosser,
Thomas Quertermous,
Archana Rai,
A. Ramani,
Heidi L. Rehm,
Chloe M Reuter,
Jason Reuter,
Matthew A. Richardson,
Andres Rivera-Munoz,
O. Rubio,
A. Sabo,
M. Salani,
K. Samocha,
Alba Sanchis-Juan,
Sarah K. Savage,
Evette Scott,
Stuart Scott,
F. Sedlazeck,
Gulalai Shah,
Ali Shojaie,
Mugdha Singh,
Kevin Scott Smith,
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
|
1 |
2024 |
1
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VUStruct: a compute pipeline for high throughput and personalized structural biology
282 auth.
Christopher W Moth,
Jonathan H. Sheehan,
Abdullah Al Mamun,
R. M. Sivley,
Alican Gulsevin,
D. Rinker,
Undiagnosed Diseases Network,
John A. Capra,
Jens Meiler,
Alyssa A. Tran,
Arjun Tarakad,
C. Bacino,
Daryl A. Scott,
Elaine Seto,
Gary D. Clark,
...
Hongzheng Dai,
Hsiao-Tuan Chao,
Ivan Chinn,
James P. Orengo,
J. Posey,
Jill A. Rosenfeld,
Kim C. Worley,
Lisa T. Emrick,
L. Potocki,
M. W. Hubshman,
R. Lewis,
S. Lalani,
Shamika Ketkar,
Tiphanie P Vogel,
W. Craigen,
Lauren Blieden,
Jared Sninsky,
H. Bellen,
Bcm Mosc,
M. Wangler,
O. Kanca,
Shinya Yamamoto,
Christine M. Eng,
Bcm Sequencing,
Cara Skraban,
Edward Behrens,
Gonench Kilich,
Kathleen E Sullivan,
Kelly Hassey,
Ramakrishnan Rajagopalan,
Rebecca Ganetzky,
Vishnu Cuddapah,
A. Raper,
Daniel J. Rader,
Giorgio Sirugo,
A. McConkie-Rosell,
K. Schoch,
Mohamad Mikati,
N. Walley,
Rebecca C. Spillmann,
V. Shashi,
Alan H. Beggs Harvard,
C. Macrae,
David A. Sweetser Harvard,
Deepak A. Rao,
Edwin K. Silverman,
Elizabeth L. Fieg Harvard,
Frances High,
Gerard T. Berry,
Ingrid A. Holm,
J. Carl,
Pallais Harvard,
Joan M. Stoler,
Joseph Loscalzo,
Lance H. Rodan Harvard,
Laurel A. Cobban,
Lauren C Briere,
M. Coggins,
Melissa Walker,
Richard L. Maas,
Susan Korrick,
Jessica Douglas,
Harvard Jessica.Douglas,
AudreyStephannie C. Maghiro,
Harvard Dmcc,
Cecilia Esteves,
Emily Glanton,
I. Kohane,
Kimberly Leblanc,
R. Mahoney,
Shamil R. Sunyaev,
S. Kobren,
Brett H. Graham,
Erin Conboy,
F. Vetrini,
Kayla Treat,
Khurram Liaqat,
Lili Mantcheva,
Stephanie M. Ware,
Breanna Mitchell,
Mayo Clinic,
Brendan C Lanpher,
D. Oglesbee,
Eric Klee,
Filippo Pinto,
Vairo Mayo Clinic,
Ian R. Lanza,
Kahlen R. Darr,
Lindsay Mulvihill,
Lisa Schimmenti,
Q. Tan,
Surendra Dasari,
A. Rebelo,
Carson A. Smith Miami,
Deborah Barbouth Miami,
G. Bademci,
Joanna M. Gonzalez Miami,
Kumarie Latchman Miami,
L. Peart,
M. Tekin,
Nicholas A. Borja,
Stephan Zuchner,
Stephanie Bivona Miami,
Willa L Thorson,
Herman Taylor,
Morehouse Dmcc,
Andrea Gropman,
B. N. Swerdzewski,
Donna Novacic,
Ellen F. Macnamara,
John J. Mulvihill,
Maria T. Acosta,
Valerie V. Maduro,
Ben Afzali,
Cynthia J Tifft,
Francis Rossignol,
Heidi Wood,
Joie Davis,
Margaret Delgado,
Marie Morimoto,
Marla Sabaii,
Orpa Jean-Marie,
Wendy Introne,
Yan Huang,
Aimee Allworth,
Andrew Stergachis,
Danny Miller,
Elizabeth E. Blue,
Elizabeth Rosenthal,
E. Balton,
Emily Shelkowitz,
Pnw Eric,
Hisama,
Gail P. Jarvik,
G. Mirzaa,
Ian A. Glass,
K. Leppig,
Katrina M. Dipple,
Wener,
M. Horike‐Pyne,
Michael Bamshad,
Peter Byers,
Sam Sheppeard,
S. Chanprasert,
Virginia Sybert,
Wendy Raskind,
N. Dargie,
Beth A. Martin,
Chloe M Reuter,
Elijah Kravets,
H. Tabor,
J. Sampson,
J. Hom,
Jennefer N. Kohler Stanford,
Jonathan A Bernstein,
Kevin Scott Smith,
M. Wheeler,
Meghan C Halley,
Paul G Fisher,
Rachel A. Ungar,
Raquel L. Alvarez,
S. Marwaha,
T. Coakley,
Euan A. Ashley,
Stanford Dmcc,
Ali Al-Beshri,
Anna Hurst,
Bruce Korf,
K. Callaway,
Martin Rodriguez,
Tammi Skelton,
A. Crouse,
Jordan H. Whitlock,
Mariko Nakano-Okuno,
M. Might,
William E. Byrd,
Changrui Xiao,
E. Vilain,
Jose Abdenur,
Kathyrn Singh,
Suzanne Sandmeyer,
T. Mozaffar,
A. R. L. Spada,
Elizabeth C. Chao,
Alden Huang,
B. L. Fogel,
E. C. Dell’Angelica,
George Carvalho,
J. Martinez-Agosto,
Martin G. Martin,
N. Dorrani,
Neil H. Parker,
Rosario I. Corona,
Stanley F. Nelson,
Yigit Karasozen,
Aaron Quinlan,
Alistair N. Ward,
A. Andrews,
C. Welt,
Dave Viskochil,
Erin E Baldwin,
J. Carey,
J. Alvey,
Laura Pace,
L. Botto,
Nicola Longo,
Paolo M. Moretti,
Russell Butterfield,
S. Boyden,
Thomas J. Nicholas,
Matt Velinder,
Gabor T. Marth,
P. Bayrak-Toydemir,
Rong Mao,
M. Westerfield,
Brian Corner,
John A. Phillips,
Kimberly M Ezell,
Lynette C Rives,
Rizwana Hamid,
Serena Neumann,
Ashley McMinn,
Joy D. Cogan,
T. Cassini,
Alex Paul,
Dana Kiley,
Daniel Wegner,
Erin McRoy,
Jennifer A. Wambach,
Kathy Sisco,
Patricia Dickson,
Dustin Baldridge,
Wustl Mosc,
Stephen C Pak,
Hector R Mendez,
Brian M. Tucker,
Beatriz Anguiano,
Mia Levanto,
Suha Bachir,
Laurens Wiel,
Stephen B Montgomery,
Tanner D. Jensen,
J. Gorzynski,
Sara Emami,
Laura Keehan,
Jennifer Schymick,
Taylor Maurer,
Alexander Miller,
Andres Vargas,
Amanda M Shrewsbury,
Bianca E. Russell,
L. A. Farraj,
Elizabeth A Worthey,
Brandon M Wilk,
Rachel Li,
Jennifer Morgan,
Sanford Jennifer.Morgan,
SanfordHealth.org,
Miranda Leitheiser,
Runjun Kumar,
Donald Basel,
M. Muriello,
Brett Bordini,
Michael Zimmermann,
Abdul Elkadri,
James W. Verbsky,
J. McCarrier
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0 |
2024 |
0
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