An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome
Titel:
An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome
Auteur:
Choufani, Sanaa McNiven, Vanda Cytrynbaum, Cheryl Jangjoo, Maryam Adam, Margaret P. Bjornsson, Hans T. Harris, Jacqueline Dyment, David A. Graham, Gail E. Nezarati, Marjan M. Aul, Ritu B. Castiglioni, Claudia Breckpot, Jeroen Devriendt, Koen Stewart, Helen Banos-Pinero, Benito Mehta, Sarju Sandford, Richard Dunn, Carolyn Mathevet, Remi van Maldergem, Lionel Piard, Juliette Brischoux-Boucher, Elise Vitobello, Antonio Faivre, Laurence Bournez, Marie Tran-Mau, Frederic Maystadt, Isabelle Fernández-Jaén, Alberto Alvarez, Sara García-Prieto, Irene Díez Alkuraya, Fowzan S. Alsaif, Hessa S. Rahbeeni, Zuhair El-Akouri, Karen Al-Mureikhi, Mariam Spillmann, Rebecca C. Shashi, Vandana Sanchez-Lara, Pedro A. Graham Jr., John M. Roberts, Amy Chorin, Odelia Evrony, Gilad D. Kraatari-Tiri, Minna Dudding-Byth, Tracy Richardson, Anamaria Hunt, David Hamilton, Laura Dyack, Sarah Mendelsohn, Bryce A. Rodríguez, Nicolás Sánchez-Martínez, Rosario Tenorio-Castaño, Jair Nevado, Julián Lapunzina, Pablo Tirado, Pilar Carminho Amaro Rodrigues, Maria-Teresa Quteineh, Lina Innes, A. Micheil Kline, Antonie D. Au, P.Y. Billie Weksberg, Rosanna