Canny Sugiana, David J. Pagliarini, Matthew McKenzie, Denise M. Kirby, Renato Salemi, Khaled K. Abu-Amero, Hans-Henrik M. Dahl, Wendy M. Hutchison, Katherine A. Vascotto, Stacey M. Smith, Robert F. Newbold, John Christodoulou, Sarah Calvo, Vamsi K. Mootha, Michael T. Ryan, David R. Thorburn
Am J Hum Genet. 2008 Oct 10; 83(4): 468–478. Published online 2008 Oct 3. doi: 10.1016/j.ajhg.2008.09.009