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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
Anderson, Beverley H; Kasher, Paul R; Mayer, Josephine; Szynkiewicz, Marcin; Jenkinson, Emma M; Bhaskar, Sanjeev S; Urquhart, Jill E; Daly, Sarah B; Dickerson, Jonathan E; O'Sullivan, James; Leibundgut, Elisabeth Oppliger; Muter, Joanne; Abdel-Salem, Ghada M H; Babul-Hirji, Riyana; Baxter, Peter; Berger, Andrea; Bonafé, Luisa; Brunstom-Hernandez, Janice E; Buckard, Johannes A; Chitayat, David; ... (2012). Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus. Nature genetics, 44(3), pp. 338-42. New York, N.Y.: Nature America 10.1038/ng.1084
