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
Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruptionCaroline Nava, John Christodoulou, Benjamin Cogné et al.|Nature Genetics|2025Cited by 41
Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomaliesGabriel C. Dworschak, Roy N. Alcalay, Jaya Punetha et al.|Genetics in Medicine|2021Cited by 38