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
Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disordersBekim Sadiković, Mariëlle Alders, Michael A. Levy et al.|Genetics in Medicine|2021Cited by 198
Spliceosome malfunction causes neurodevelopmental disorders with overlapping featuresDong Li, Jessica Douglas, Qin Wang et al.|Journal of Clinical Investigation|2023Cited by 44
Broadening the phenotypic and molecular spectrum of FINCA syndrome: Biallelic NHLRC2 variants in 15 novel individualsHenrike L. Sczakiel, Felix Boschann, Max Zhao et al.|European Journal of Human Genetics|2023Cited by 8