Showing 1 - 9 results of 9 for search '"Liebelt, Jan E"', query time: 1.75s Refine Results  

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

by 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, Dong, Shan, Adams, David R, Bakshi, Madhura, Baldwin, Erin E, Berger, Seth I, Bernstein, Jonathan A, Bhatnagar, Ishita, Brown, Natasha J, Burrage, Lindsay C, Chapman, Kimberly, Coman, David J, Compton, Alison G, Cunningham, Chloe A, Danecek, Petr, Délot, Emmanuèle C, Elmslie, Frances, Evans, Care-Anne, Ewans, Lisa, Fraser, Jamie L, Gallacher, Lyndon, Genetti, Casie A, Goriely, Anne, Grant, Christina L, Haack, Tobias, Hinch, Anjali G, 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, Nassogne, Marie-Cécile, Neumann, Serena, O'Donoghue, Michael, Palmer, Elizabeth E, Pattani, Nikhil, Phillips, John, Pitsava, Georgia, 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, Stark, Zornitza, Stewart, Helen S, Tan, Tiong Yang, Tan, Natalie B, Temple, Suzanna E L, Tifft, Cynthia J, Uebergang, Eloise, Vilain, Eric, Wedd, Laura, Wheeler, Matthew T, White, Susan M, Wojcik, Monica, Wolfe, Lynne A, Wolfenson, Zoe, 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
Published in Nature (London) (22.08.2024)

Get full text
Journal Article

De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders

by Chen, Yuyang, Dawes, Ruebena, Kim, Hyung Chul, Stenton, Sarah L, Walker, Susan, Ljungdahl, Alicia, Lord, Jenny, Ganesh, Vijay S, Ma, Jialan, Martin-Geary, Alexandra C, Lemire, Gabrielle, D'Souza, Elston N, Dong, Shan, Ellingford, Jamie M, Adams, David R, Allan, Kirsten, Bakshi, Madhura, Baldwin, Erin E, Berger, Seth I, Bernstein, Jonathan A, Brown, Natasha J, Burrage, Lindsay C, Chapman, Kimberly, Compton, Alison G, Cunningham, Chloe A, D'Souza, Precilla, Délot, Emmanuèle C, Dias, Kerith-Rae, Elias, Ellen R, Evans, Carey-Anne, Ewans, Lisa, Ezell, Kimberly, Fraser, Jamie L, Gallacher, Lyndon, Genetti, Casie A, Grant, Christina L, Haack, Tobias, Kuechler, Alma, Lalani, Seema R, Leitão, Elsa, Fevre, Anna Le, Leventer, Richard J, Liebelt, Jan E, Lockhart, Paul J, Ma, Alan S, Macnamara, Ellen F, Maurer, Taylor M, Mendez, Hector R, Montgomery, Stephen B, Nassogne, Marie-Cécile, Neumann, Serena, O'Leary, Melanie, Palmer, Elizabeth E, 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, Simons, Cas, Sisodiya, Sanjay M, Snell, Penny, Clair, Laura, Stark, Zornitza, Tan, Tiong Yang, Tan, Natalie B, Temple, Suzanna El, Thorburn, David R, Tifft, Cynthia J, Uebergang, Eloise, VanNoy, Grace E, Vilain, Eric, Viskochil, David H, Wedd, Laura, Wheeler, Matthew T, White, Susan M, Wojcik, Monica, Wolfe, Lynne A, Wolfenson, Zoe, Xiao, Changrui, Zocche, David, Rubenstein, John L, Markenscoff-Papadimitriou, Eirene, Fica, Sebastian M, Baralle, Diana, Depienne, Christel, MacArthur, Daniel G, Howson, Joanna Mm, Sanders, Stephan J, O'Donnell-Luria, Anne, Whiffin, Nicola
Published in medRxiv : the preprint server for health sciences (09.04.2024)
Get more information
Journal Article