Associated Papers
A Systematic Review Illustrates the Expanding Clinical and Molecular Landscape of Helsmoortel-Van der Aa Syndrome.
Harutyunyan L et al.
Brain Sciences, 2025
Blepharophimosis with intellectual disability and Helsmoortel-Van Der Aa Syndrome share episignature and phenotype.
Sarli C et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2024
A genome-wide DNA methylation signature for SETD1B-related syndrome.
Krzyzewska IM et al.
Clinical Epigenetics, 2019
31685013 (PubMed )
Supplement: 13148_2019_749_MOESM5_ESM.xlsx › Sheet1
Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome.
Bend EG et al.
Clinical Epigenetics, 2019
Mutations in ADNP affect expression and subcellular localization of the protein.
Cappuyns E et al.
Cell Cycle (georgetown, Tex.), 2018
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