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Ha, Thoa; Morgan, Angela; Bartos, Meghan N; Beatty, Katelyn; Cogné, Benjamin; Braun, Dominique; Gerber, Céline B; Gaspar, Harald; Kopps, Anna M; Rieubland, Claudine; Hurst, Anna C E; Amor, David J; Nizon, Mathilde; Pasquier, Laurent; Pfundt, Rolph; Reis, André; Siu, Victoria Mok; Tessarech, Marine; Thompson, Michelle L; Vincent, Marie; ... (2024). De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay. American journal of medical genetics. Part A, 194(7), e63559. Wiley-Liss 10.1002/ajmg.a.63559
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
