Associated Papers
Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders.
Husson T et al.
European Journal of Human Genetics : Ejhg, 2024
37872275 (PubMed )
Supplement: 41431_2023_1474_MOESM2_ESM.xlsx › Supp_table_1
Beyond the known phenotype of sotos syndrome: a 31-individuals cohort study.
Lourdes VH et al.
Frontiers in Pediatrics, 2023
Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability.
Tatton-Brown K et al.
American Journal of Human Genetics, 2017
28475857 (PubMed )
Supplement: mmc2.xlsx › Supplementary_Table_1
Severe connective tissue laxity including aortic dilatation in Sotos syndrome.
Hood RL et al.
American Journal of Medical Genetics. Part A, 2016
Select a paper to view details