De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome.
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francois-lecoquierre/genomics_shortcuts
Computational-Rare-Disease-Genomics-WHG/RNU4-2
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Jonathan A. Bernstein, Ishita Bhatnagar, Ed Blair, Natasha J. Brown, Lindsay C. Burrage, Kimberly Chapman, David J. Coman, Alison G. Compton, Chloe A. Cunningham, Precilla D’Souza, Petr Danecek, Emmanuèle C. Délot, Kerith-Rae Dias, Ellen R. Elias, Frances Elmslie, Care-Anne Evans, Lisa Ewans, Kimberly Ezell, Jamie L. Fraser, Lyndon Gallacher, Casie A. Genetti, Anne Goriely, Christina L. Grant, Tobias Haack, Jenny E. Higgs, Anjali G. Hinch, Matthew E. Hurles, Alma Kuechler, Katherine L. Lachlan, Seema R. Lalani, François Lecoquierre, Elsa Leitão, Anna Le Fevre, Richard J. Leventer, Jan E. Liebelt, Sarah Lindsay, Paul J. Lockhart, Alan S. Ma, Ellen F. Macnamara, Sahar Mansour, Taylor M. Maurer, Hector R. Mendez, Kay Metcalfe, Stephen B. Montgomery, Mariya Moosajee, Marie-Cécile Nassogne, Serena Neumann, Michael O’Donoghue, Melanie O’Leary, Elizabeth E. Palmer, Nikhil Pattani, John Phillips, Georgia Pitsava, Ryan Pysar, Heidi L. Rehm, Chloe M. Reuter, Nicole Revencu, Angelika Riess, Rocio Rius, Lance Rodan, Tony Roscioli, Jill A. Rosenfeld, Rani Sachdev, Charles J. Shaw-Smith, Cas Simons, Sanjay M. Sisodiya, Penny Snell, Laura St Clair, Zornitza Stark, Helen S. Stewart, Tiong Yang Tan, Natalie B. Tan, Suzanna E. L. Temple, David R. Thorburn, Cynthia J. Tifft, Eloise Uebergang, Grace E. VanNoy, Pradeep Vasudevan, Eric Vilain, David H. Viskochil, Laura Wedd, Matthew T. Wheeler, Susan M. White, Monica Wojcik, Lynne A. Wolfe, Zoe Wolfenson, Caroline F. Wright, Changrui Xiao, David Zocche, John L. Rubenstein, Eirene Markenscoff-PapadimitrioData
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