Genome duplication in the teleost fish Tetraodon nigroviridis reveals the early vertebrate proto-karyotypeOlivier Jaillon, Chad Nusbaum, Jean‐Marc Aury et al.|Nature|2004Cited by 2k
Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental DisordersErfan Aref‐Eshghi, Jennifer Masters, Valérie Cormier‐Daire 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
Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndromeEric G. Bend, Bekim Sadiković, Erfan Aref‐Eshghi et al.|Clinical Epigenetics|2019Cited by 129
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