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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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