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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
Szakszon, Katalin; Lourenco, Charles Marques; Callewaert, Bert Louis; Geneviève, David; Rouxel, Flavien; Morin, Denis; Denommé-Pichon, Anne-Sophie; Vitobello, Antonio; Patterson, Wesley; Louie, Raymond; Pinto E Vairo, Filippo; Klee, Eric; Kaiwar, Charu; Gavrilova, Ralitza H; Agre, Katherine E; Jacquemont, Sebastien; Khadijé, Jizi; Giltay, Jacques; van Gassen, Koen; Merő, Gabriella; ... (2024). Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with ZNF148 mutations. Journal of medical genetics, 61(2), pp. 132-141. BMJ Publishing Group 10.1136/jmg-2022-109030
Gehin, Charlotte; Lone, Museer A; Lee, Winston; Capolupo, Laura; Ho, Sylvia; Adeyemi, Adekemi M; Gerkes, Erica H; Stegmann, Alexander Pa; López-Martín, Estrella; Bermejo-Sánchez, Eva; Martínez-Delgado, Beatriz; Zweier, Christiane; Kraus, Cornelia; Popp, Bernt; Strehlow, Vincent; Gräfe, Daniel; Knerr, Ina; Jones, Eppie R; Zamuner, Stefano; Abriata, Luciano A; ... (2023). CERT1 mutations perturb human development by disrupting sphingolipid homeostasis. The journal of clinical investigation, 133(10) American Society for Clinical Investigation 10.1172/JCI165019
