BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cellsDavor Lessel, Christian Kubisch, Christina Gehbauer et al.|Brain|2018Cited by 133
Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical SpectrumMarialetizia Motta, Marco Tartaglia, Shalini C. Reshmi et al.|The American Journal of Human Genetics|2020Cited by 95
Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behaviorHolly K. Harris, Christopher Gray, Tojo Nakayama et al.|Genetics in Medicine|2021Cited by 91
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
De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset HypotoniaHanneke A. Haijes, Peter M. van Hasselt, Maria J.E. Koster et al.|The American Journal of Human Genetics|2019Cited by 72