Jennie E. Murray, Mirjam van der Burg, Hanna IJspeert, Paula Carroll, Qian Wu, Takashi Ochi, Andrea Leitch, Edward S. Miller, Boris Kysela, Alireza Jawad, Armand Bottani, Francesco Brancati, Marco Cappa, Valerie Cormier-Daire, Charu Deshpande, Eissa A. Faqeih, Gail E. Graham, Emmanuelle Ranza, Tom L. Blundell, Andrew P. Jackson, Grant S. Stewart, Louise S. Bicknell
Am J Hum Genet. 2015 Mar 5; 96(3): 412–424. doi: 10.1016/j.ajhg.2015.01.013