Nuno Maia, Sven Potelle, Hamide Yildirim, Sandrine Duvet, Shyam K. Akula, Celine Schulz, Elsa Wiame, Alexander Gheldof, Katherine O’Kane, Abbe Lai, Karen Sermon, Maïa Proisy, Philippe Loget, Tania Attié-Bitach, Chloé Quelin, Ana Maria Fortuna, Ana Rita Soares, Arjan P.M. de Brouwer, Emile Van Schaftingen, Marie-Cécile Nassogne, Christopher A. Walsh, Katrien Stouffs, Paula Jorge, Anna C. Jansen, François Foulquier
Am J Hum Genet. 2022 Feb 3; 109(2): 345–360. Published online 2022 Jan 18. doi: 10.1016/j.ajhg.2021.12.010