Holger Hengel, Shabab B. Hannan, Sarah Dyack, Sara B. MacKay, Ulrich Schatz, Martin Fleger, Andreas Kurringer, Ghassan Balousha, Zaid Ghanim, Fowzan S. Alkuraya, Hamad Alzaidan, Hessa S. Alsaif, Tadahiro Mitani, Sevcan Bozdogan, Davut Pehlivan, James R. Lupski, Joseph J. Gleeson, Mohammadreza Dehghani, Mohammad Y.V. Mehrjardi, Elliott H. Sherr, Kendall C. Parks, Emanuela Argilli, Amber Begtrup, Hamid Galehdari, Osama Balousha, Gholamreza Shariati, Neda Mazaheri, Reza A. Malamiri, Alistair T. Pagnamenta, Helen Kingston, Siddharth Banka, Adam Jackson, Mathew Osmond, Care4Rare Canada Consortium, Genomics England Research Consortium, Angelika Rieß, Tobias B. Haack, Thomas Nägele, Stefanie Schuster, Stefan Hauser, Jakob Admard, Nicolas Casadei, Ana Velic, Boris Macek, Stephan Ossowski, Henry Houlden, Reza Maroofian, Ludger Schöls
Am J Hum Genet. 2021 Jun 3; 108(6): 1069–1082. Published online 2021 May 21. doi: 10.1016/j.ajhg.2021.04.024