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Mannucci, Ilaria; Dang, Nghi D P; Huber, Hannes; Murry, Jaclyn B; Abramson, Jeff; Althoff, Thorsten; Banka, Siddharth; Baynam, Gareth; Bearden, David; Beleza-Meireles, Ana; Benke, Paul J; Berland, Siren; Bierhals, Tatjana; Bilan, Frederic; Bindoff, Laurence A; Braathen, Geir Julius; Busk, Øyvind L; Chenbhanich, Jirat; Denecke, Jonas; Escobar, Luis F; ... (2021). Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders. Genome medicine, 13(1), p. 90. BioMed Central 10.1186/s13073-021-00900-3
Huisman, Sylvia; Mulder, Paul A; Redeker, Egbert; Bader, Ingrid; Bisgaard, Anne-Marie; Brooks, Alice; Cereda, Anna; Cinca, Constanza; Clark, Dinah; Cormier-Daire, Valerie; Deardorff, Matthew A; Diderich, Karin; Elting, Mariet; van Essen, Anthonie; FitzPatrick, David; Gervasini, Cristina; Gillessen-Kaesbach, Gabriele; Girisha, Katta M; Hilhorst-Hofstee, Yvonne; Hopman, Saskia; ... (2017). Phenotypes and genotypes in individuals with SMC1A variants. American journal of medical genetics. Part A, 173(8), pp. 2108-2125. Wiley-Liss 10.1002/ajmg.a.38279
