Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical SpectrumMarialetizia Motta, Marco Tartaglia, Luca Pannone et al.|The American Journal of Human Genetics|2020Cited by 95
SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in femalesFrancesca Clementina Radio, Angelo Selicorni, Kaifang Pang et al.|The American Journal of Human Genetics|2021Cited by 90
Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variantsLi Xin Zhang, Yuri A. Zárate, Gabrielle Lemire et al.|Genetics in Medicine|2020Cited by 62
A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndromeTheodore G. Drivas, Lot Snijders Blok, Nicole L. Bertsch et al.|European Journal of Human Genetics|2020Cited by 52