Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature

Author:

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

Funder

Ontario Brain Institute

Canadian Institutes of Health Research

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

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