Article

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

Nature - 1 Aug 2024

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