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Garnier, Nicolas; Berghout, Joanne; Zygmunt, Aldona; Singh, Deependra; Huang, Kui A; Kantz, Waltraud; Blankart, Carl Rudolf; Gillner, Sandra; Zhao, Jiawei; Roettger, Richard; Saier, Christina; Kirschner, Jan; Schenk, Joern; Atkins, Leon; Ryan, Nuala; Zarakowska, Kaja; Zschüntzsch, Jana; Zuccolo, Michela; Müllenborn, Matthias; Man, Yuen-Sum; ... (2023). Genetic newborn screening and digital technologies: A project protocol based on a dual approach to shorten the rare diseases diagnostic path in Europe. PLoS ONE, 18(11), e0293503. Public Library of Science 10.1371/journal.pone.0293503
Al-Jawahiri, Reem; Foroutan, Aidin; Kerkhof, Jennifer; McConkey, Haley; Levy, Michael; Haghshenas, Sadegheh; Rooney, Kathleen; Turner, Jasmin; Shears, Debbie; Holder, Muriel; Lefroy, Henrietta; Castle, Bruce; Reis, Linda M; Semina, Elena V; Lachlan, Katherine; Chandler, Kate; Wright, Thomas; Clayton-Smith, Jill; Hug, Franziska Phan; Pitteloud, Nelly; ... (2022). SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile. Genetics in medicine, 24(6), pp. 1261-1273. Elsevier 10.1016/j.gim.2022.02.013
