Lindsey D. Goodman, Heidi Cope, Zelha Nil, Thomas A. Ravenscroft, Wu-Lin Charng, Shenzhao Lu, An-Chi Tien, Rolph Pfundt, David A. Koolen, Charlotte A. Haaxma, Hermine E. Veenstra-Knol, Jolien S. Klein Wassink-Ruiter, Marijke R. Wevers, Melissa Jones, Laurence E. Walsh, Victoria H. Klee, Miel Theunis, Eric Legius, Dora Steel, Katy E.S. Barwick, Manju A. Kurian, Shekeeb S. Mohammad, Russell C. Dale, Paulien A. Terhal, Ellen van Binsbergen, Brian Kirmse, Bethany Robinette, Benjamin Cogné, Bertrand Isidor, Theresa A. Grebe, Peggy Kulch, Bryan E. Hainline, Katherine Sapp, Eva Morava, Eric W. Klee, Erica L. Macke, Pamela Trapane, Christopher Spencer, Yue Si, Amber Begtrup, Matthew J. Moulton, Debdeep Dutta, Oguz Kanca, Undiagnosed Diseases Network, Michael F. Wangler, Shinya Yamamoto, Hugo J. Bellen, Queenie K.-G. Tan
Am J Hum Genet. 2021 Sep 2; 108(9): 1669–1691. Published online 2021 Jul 26. doi: 10.1016/j.ajhg.2021.06.019