Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental DisordersErfan Aref‐Eshghi, Jennifer Masters, Didier Lacombe et al.|The American Journal of Human Genetics|2020Cited by 334
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
Clinical and molecular description of 19 patients with GATAD2B-Associated Neurodevelopmental Disorder (GAND)Gabriella Vera, Anne‐Marie Guerrot, Arthur Sorlin et al.|European Journal of Medical Genetics|2020Cited by 13