Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome
Joost Kummeling, Diante E Stremmelaar, Nicholas Raun, Margot RF Reijnders, Marjolein H Willemsen, Martina Ruiterkamp-Versteeg, Marga Schepens, Calvin CO Man, Christian Gilissen, Megan T Cho, Kirsty McWalter, Margje Sinnema, James W Wheless, Marleen EH Simon, Casie A Genetti, Alicia M Casey, Paulien A Terhal, Jasper J van der Smagt, Koen L van Gassen, Pascal Joset, Angela Bahr, Katharina Steindl, Anita Rauch, Elmar Keller, Annick Raas-Rothschild, David A Koolen, Pankaj B Agrawal, Trevor L Hoffman, Nina N Powell-Hamilton, Isabelle Thiffault, Kendra Engleman, Dihong Zhou, Olaf Bodamer, Julia Hoefele, Korbinian M Riedhammer, Eva MC Schwaibold, Velibor Tasic, Dirk Schubert, Deniz Top, Rolph Pfundt, Martin R Higgs, Jamie M Kramer, Tjitske Kleefstra
bioRxiv 2019.12.17.879189; doi: https://doi.org/10.1101/2019.12.17.879189