Susan M. White, Elizabeth Bhoj, Christoffer Nellåker, Augusta M.A. Lachmeijer, Aren E. Marshall, Kym M. Boycott, Dong Li, Wendy Smith, Taila Hartley, Arran McBride, Michelle E. Ernst, Alison S. May, Dagmar Wieczorek, Rami Abou Jamra, Margarete Koch-Hogrebe, Katrin Õunap, Sander Pajusalu, K.L.I. van Gassen, Simon Sadedin, Sara Ellingwood, Tiong Yang Tan, John Christodoulou, Jaime Barea, Paul J. Lockhart, Care4Rare Canada Consortium, Marjan M. Nezarati, Kristin D. Kernohan
Am J Hum Genet. 2021 Apr 1; 108(4): 749–756. Published online 2021 Mar 19. doi: 10.1016/j.ajhg.2021.03.007