Anna Fliedner, Philipp Kirchner, Antje Wiesener, Irma van de Beek, Quinten Waisfisz, Mieke van Haelst, Daryl A. Scott, Seema R. Lalani, Jill A. Rosenfeld, Mahshid S. Azamian, Fan Xia, Marina Dutra-Clarke, Julian A. Martinez-Agosto, Hane Lee, UCLA Clinical Genomics Center, Grace J. Noh, Natalie Lippa, Anna Alkelai, Vimla Aggarwal, Katherine E. Agre, Ralitza Gavrilova, Ghayda M. Mirzaa, Rachel Straussberg, Rony Cohen, Brooke Horist, Vidya Krishnamurthy, Kirsty McWalter, Jane Juusola, Laura Davis-Keppen, Lisa Ohden, Marjon van Slegtenhorst, Stella A. de Man, Arif B. Ekici, Anne Gregor, Ingrid van de Laar, Christiane Zweier
Am J Hum Genet. 2020 Sep 3; 107(3): 544–554. Published online 2020 Jul 29. doi: 10.1016/j.ajhg.2020.06.019