Teresa Santiago-Sim, Lindsay C. Burrage, Frédéric Ebstein, Mari J. Tokita, Marcus Miller, Weimin Bi, Alicia A. Braxton, Jill A. Rosenfeld, Maher Shahrour, Andrea Lehmann, Benjamin Cogné, Sébastien Küry, Thomas Besnard, Bertrand Isidor, Stéphane Bézieau, Isabelle Hazart, Honey Nagakura, LaDonna L. Immken, Rebecca O. Littlejohn, Elizabeth Roeder, EuroEPINOMICS RES Consortium Autosomal Recessive working group, S. Hande Caglayan, Bulent Kara, Katia Hardies, Sarah Weckhuysen, Patrick May, Johannes R. Lemke, Orly Elpeleg, Bassam Abu-Libdeh, Kiely N. James, Jennifer L. Silhavy, Mahmoud Y. Issa, Maha S. Zaki, Joseph G. Gleeson, John R. Seavitt, Mary E. Dickinson, M. Cecilia Ljungberg, Sara Wells, Sara J. Johnson, Lydia Teboul, Christine M. Eng, Yaping Yang, Peter-Michael Kloetzel, Jason D. Heaney, Magdalena A. Walkiewicz
Am J Hum Genet. 2017 Apr 6; 100(4): 676–688. Published online 2017 Mar 23. doi: 10.1016/j.ajhg.2017.03.001