Vandana A. Gupta, Gianina Ravenscroft, Ranad Shaheen, Emily J. Todd, Lindsay C. Swanson, Masaaki Shiina, Kazuhiro Ogata, Cynthia Hsu, Nigel F. Clarke, Basil T. Darras, Michelle A. Farrar, Amal Hashem, Nicholas D. Manton, Francesco Muntoni, Kathryn N. North, Sarah A. Sandaradura, Ichizo Nishino, Yukiko K. Hayashi, Caroline A. Sewry, Elizabeth M. Thompson, Kyle S. Yau, Catherine A. Brownstein, Timothy W. Yu, Richard J.N. Allcock, Mark R. Davis, Carina Wallgren-Pettersson, Naomichi Matsumoto, Fowzan S. Alkuraya, Nigel G. Laing, Alan H. Beggs
Am J Hum Genet. 2013 Dec 5; 93(6): 1108–1117. doi: 10.1016/j.ajhg.2013.10.020