Marcello Scala, Valeria Tomati, Matteo Ferla, Mariateresa Lena, Julie S. Cohen, Ali Fatemi, Elly Brokamp, Anna Bican, John A. Phillips, III, Mary E. Koziura, Michael Nicouleau, Marlene Rio, Karine Siquier, Nathalie Boddaert, Ilaria Musante, Serena Tamburro, Simona Baldassari, Michele Iacomino, Paolo Scudieri, Undiagnosed Diseases Network, Jill A. Rosenfeld, Gary Bellus, Sara Reed, Hind Al Saif, Rossana Sanchez Russo, Matthew B. Walsh, Vincent Cantagrel, Amy Crunk, Stefano Gustincich, Sarah M. Ruggiero, Mark P. Fitzgerald, Ingo Helbig, Pasquale Striano, Mariasavina Severino, Vincenzo Salpietro, Nicoletta Pedemonte, Federico Zara
Am J Hum Genet. 2024 Mar 7; 111(3): 529–543. Published online 2024 Feb 21. doi: 10.1016/j.ajhg.2024.02.001