Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndromeJ. K. J. VAN HOUDT, Joris Vermeesch, Beata Nowakowska et al.|Nature Genetics|2012Cited by 244
Effect of Whole-Genome Sequencing on the Clinical Management of Acutely Ill Infants With Suspected Genetic DiseaseRyan J. Taft, Ian D. Krantz, Līvija Medne et al.|JAMA Pediatrics|2021Cited by 172
De novo mutations across 1,465 diverse genomes reveal mutational insights and reductions in the Amish founder populationMichael D. Kessler, Elizabeth L. Appelbaum, Michelle Daya et al.|Proceedings of the National Academy of Sciences|2020Cited by 111
Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndromeSarah E. Sheppard, Brian Hon‐Yin Chung, Ian M. Campbell et al.|American Journal of Medical Genetics Part A|2021Cited by 72