Serge Bonnefoy, Christopher M. Watson, Kristin D. Kernohan, Moara Lemos, Sebastian Hutchinson, James A. Poulter, Laura A. Crinnion, Ian Berry, Jennifer Simmonds, Pradeep Vasudevan, Chris O’Callaghan, Robert A. Hirst, Andrew Rutman, Lijia Huang, Taila Hartley, David Grynspan, Eduardo Moya, Chunmei Li, Ian M. Carr, David T. Bonthron, Michel Leroux, Care4Rare Canada Consortium, Kym M. Boycott, Philippe Bastin, Eamonn G. Sheridan
Am J Hum Genet. 2018 Nov 1; 103(5): 727–739. Published online 2018 Nov 1. doi: 10.1016/j.ajhg.2018.10.003