Cristina Dias, Sara B. Estruch, Sarah A. Graham, Jeremy McRae, Stephen J. Sawiak, Jane A. Hurst, Shelagh K. Joss, Susan E. Holder, Jenny E.V. Morton, Claire Turner, Julien Thevenon, Kelly Mellul, Gabriela Sánchez-Andrade, Ximena Ibarra-Soria, Pelagia Deriziotis, Rui F. Santos, Song-Choon Lee, Laurence Faivre, Tjitske Kleefstra, Pentao Liu, Mathew E. Hurles, DDD Study, Simon E. Fisher, Darren W. Logan
Am J Hum Genet. 2016 Aug 4; 99(2): 253–274. Published online 2016 Jul 21. doi: 10.1016/j.ajhg.2016.05.030