Evidence for 28 genetic disorders discovered by combining healthcare and research dataJoanna Kaplanis, Swati Naik, Kaitlin E. Samocha et al.|Nature|2020Cited by 672
Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndromeJ. K. J. VAN HOUDT, Joris Vermeesch, Alan Fryer et al.|Nature Genetics|2012Cited by 244
Somatic mutations and progressive monosomy modify SAMD9-related phenotypes in humansFederica Buonocore, John C. Achermann, Peter Kühnen et al.|Journal of Clinical Investigation|2017Cited by 170
Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritanceFrank J. Kaiser, Sarah E. Noon, Morad Ansari et al.|Human Molecular Genetics|2014Cited by 151
The contribution of X-linked coding variation to severe developmental disordersHilary C. Martin, Alison Hills, Eugene J. Gardner et al.|Nature Communications|2021Cited by 65