Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental DisordersErfan Aref‐Eshghi, Jennifer Masters, Patricia Fergelot et al.|The American Journal of Human Genetics|2020Cited by 334
Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and EpilepsyAnne O’Donnell‐Luria, Kirsty McWalter, Lynn Pais et al.|The American Journal of Human Genetics|2019Cited by 99
Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disordersFranziska Langhammer, Fuad Al Mutairi, Reza Maroofian et al.|Genetics in Medicine|2023Cited by 12