Clara D.M. van Karnebeek, Rúben J. Ramos, Xiao-Yan Wen, Maja Tarailo-Graovac, Joseph G. Gleeson, Cristina Skrypnyk, Koroboshka Brand-Arzamendi, Farhad Karbassi, Mahmoud Y. Issa, Robin van der Lee, Britt I. Drögemöller, Janet Koster, Justine Rousseau, Philippe M. Campeau, Youdong Wang, Feng Cao, Meng Li, Jos Ruiter, Jolita Ciapaite, Leo A.J. Kluijtmans, Michel A.A.P. Willemsen, Judith J. Jans, Colin J. Ross, Liesbeth T. Wintjes, Richard J. Rodenburg, Marleen C.D.G. Huigen, Zhengping Jia, Hans R. Waterham, Wyeth W. Wasserman, Ronald J.A. Wanders, Nanda M. Verhoeven-Duif, Maha S. Zaki, Ron A. Wevers
Am J Hum Genet. 2019 Sep 5; 105(3): 534–548. Published online 2019 Aug 15. doi: 10.1016/j.ajhg.2019.07.015