De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome

Hyung Kim,Alicia Ljungdahl,Sarah Stenton,Susan Walker,Jenny Lord,Gabrielle Lemire,Alexandra Martin-Geary,Vijay Ganesh,Jialan Ma,Jamie Ellingford,Erwan Delage,Elston D’Souza,Shan Dong,David Adams,Kirsten Allan,Madhura Bakshi,Erin Baldwin,Seth Berger,Jonathan Bernstein,Ishita Bhatnagar,Ed Blair,Natasha Brown,Lindsay Burrage,Kimberly Chapman,David Coman,Alison Compton,Chloe Stutterd,Precilla D’Souza,Petr Danecek,Emmanuèle Délot,Kerith‐Rae Dias,Ellen Elias,Frances Elmslie,Christopher Evans,Lisa Ewans,Kimberly Ezell,Jamie Fraser,Lyndon Gallacher,Casie Genetti,Anne Goriely,Christina Grant,Tobias Haack,Jenny Higgs,Anjali Hinch,Matthew Hurles,Alma Kuechler,Katherine Lachlan,Mario Saporta,François Lecoquierre,Elsa Leitão,Anna Fevre,Richard Leventer,Jan Liebelt,Sarah Lindsay,Paul Lockhart,Alan Ma,Sahar Mansour,T. Maurer,Rodrigo Mendez,Kay Metcalfe,Stephen Montgomery,Mariya Moosajee,Marie‐Cécile Nassogne,Sabine Neumann,Michael O’Donoghue,Melanie O’Leary,Elizabeth Palmer,Nikhil Pattani,John Phillips,Georgia Pitsava,Ryan Pysar,Heidi Rehm,Chloe Reuter,Nicole Revençu,Angelika Rieß,Rocío Rius,Lance Rodan,Tony Roscioli,Jill Rosenfeld,Rani Sachdev,Charles Shaw‐Smith,Cas Simons,Sanjay Sisodiya,Penny Snell,Laura Clair,Zornitza Stark,Helen Stewart,Tiong Tan,Natalie Tan,Suzanna Temple,David Thorburn,Cynthia Tifft,Eloise Uebergang,Grace VanNoy,Pradeep Vasudevan,Éric Vilain,David Viskochil,Laura Wedd,Matthew Wheeler,Susan White,Monica Wojcik,Lynne Wolfe,Zoe Wolfenson,Caroline Wright,Changrui Xiao,David Zocche,John Rubenstein,Eirene Markenscoff-Papadimitriou,Sebastian Fica,Diana Baralle,Christel Depienne,Daniel MacArthur,Joanna Howson,Stephan Sanders,Anne O’Donnell-Luria,Nicola Whiffin