Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature
Titel:
Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature
Auteur:
Rots, Dmitrijs Chater-Diehl, Eric Dingemans, Alexander J.M. Goodman, Sarah J. Siu, Michelle T. Cytrynbaum, Cheryl Choufani, Sanaa Hoang, Ny Walker, Susan Awamleh, Zain Charkow, Joshua Meyn, Stephen Pfundt, Rolph Rinne, Tuula Gardeitchik, Thatjana de Vries, Bert B.A. Deden, A. Chantal Leenders, Erika Kwint, Michael Stumpel, Constance T.R.M. Stevens, Servi J.C. Vermeulen, Jeroen R. van Harssel, Jeske V.T. Bosch, Danielle G.M. van Gassen, Koen L.I. van Binsbergen, Ellen de Geus, Christa M. Brackel, Hein Hempel, Maja Lessel, Davor Denecke, Jonas Slavotinek, Anne Strober, Jonathan Crunk, Amy Folk, Leandra Wentzensen, Ingrid M. Yang, Hui Zou, Fanggeng Millan, Francisca Person, Richard Xie, Yili Liu, Shuxi Ousager, Lilian B. Larsen, Martin Schultz-Rogers, Laura Morava, Eva Klee, Eric W. Berry, Ian R. Campbell, Jennifer Lindstrom, Kristin Pruniski, Brianna Neumeyer, Ann M. Radley, Jessica A. Phornphutkul, Chanika Schmidt, Berkley Wilson, William G. Õunap, Katrin Reinson, Karit Pajusalu, Sander van Haeringen, Arie Ruivenkamp, Claudia Cuperus, Roos Santos-Simarro, Fernando Palomares-Bralo, María Pacio-Míguez, Marta Ritter, Alyssa Bhoj, Elizabeth Tønne, Elin Tveten, Kristian Cappuccio, Gerarda Brunetti-Pierri, Nicola Rowe, Leah Bunn, Jason Saenz, Margarita Platzer, Konrad Mertens, Mareike Caluseriu, Oana Nowaczyk, Małgorzata J.M. Cohn, Ronald D. Kannu, Peter Alkhunaizi, Ebba Chitayat, David Scherer, Stephen W. Brunner, Han G. Vissers, Lisenka E.L.M. Kleefstra, Tjitske Koolen, David A. Weksberg, Rosanna