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Banks, Emily; Francis, Vincent; Lin, Sheng-Jia; Kharfallah, Fares; Fonov, Vladimir; Lévesque, Maxime; Han, Chanshuai; Kulasekaran, Gopinath; Tuznik, Marius; Bayati, Armin; Al-Khater, Reem; Alkuraya, Fowzan S; Argyriou, Loukas; Babaei, Meisam; Bahlo, Melanie; Bakhshoodeh, Behnoosh; Barr, Eileen; Bartik, Lauren; Bassiony, Mahmoud; Bertrand, Miriam; ... (2024). Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy. Nature communications, 15(7239) Nature Publishing Group 10.1038/s41467-024-51310-z
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
Oestreich, Marc-Alexander; Keller, Fabian; Bovermann, Xenia; Braun, Dominique; Schiller, Rike; Raio, Luigi; Zweier, Christiane; Casaulta, Carmen; Usemann, Jakob; Kidszun, André; Popa-Todirenchi, Mircea-Horia (2024). A Mild Case of Jeune Syndrome Associated with a Recurrent Missense Variant in DYNC2H1: Confirmation of a Genotype-Phenotype Correlation. Klinische Pädiatrie, 236(2), pp. 145-147. Thieme 10.1055/a-2235-6201
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
