David T. Burns, Sandra Donkervoort, Juliane S. Müller, Ellen Knierim, Diana Bharucha-Goebel, Eissa Ali Faqeih, Stephanie K. Bell, Abdullah Y. AlFaifi, Dorota Monies, Francisca Millan, Kyle Retterer, Sarah Dyack, Sara MacKay, Susanne Morales-Gonzalez, Michele Giunta, Benjamin Munro, Gavin Hudson, Mena Scavina, Laura Baker, Tara C. Massini, Monkol Lek, Ying Hu, Daniel Ezzo, Fowzan S. AlKuraya, Peter B. Kang, Helen Griffin, A. Reghan Foley, Markus Schuelke, Rita Horvath, Carsten G. Bönnemann
Am J Hum Genet. 2018 May 3; 102(5): 858–873. Published online 2018 May 3. doi: 10.1016/j.ajhg.2018.03.011