Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencingThomas Pickardt, Tomas Fitzgerald, Tarjinder Singh et al.|Nature Genetics|2016Cited by 467
De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndromeYuyang Chen, Seema R. Lalani, Ruebena Dawes et al.|Nature|2024Cited by 113
Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental DelayKeren Machol, Carlos A. Bacino, Justine Rousseau et al.|The American Journal of Human Genetics|2018Cited by 91
Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delaysMythily Ganapathi, Elizabeth Bhoj, Leticia S. Matsuoka et al.|European Journal of Human Genetics|2023Cited by 25