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    • Journal article
    De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome.
    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[UCL] 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 (2024) Nature — Vol. 632, no.8026, p. 832-840 (2024)