Identification of genetic and non-genetic modifiers of genomic imprinting through screening of imprinted DMR methylation in humans
These findings identify several genetic and non-genetic factors including new genes associated with genomic imprinting maintenance in humans, which may have a role in the aetiology of the diseases with imprinting abnormalities and have clear implications in molecular diagnostics.
Authors
- Claudia Angelini (ORCID: https://orcid.org/0000-0001-8350-8464)
- Bruno Hay Mele (ORCID: https://orcid.org/0000-0001-5579-183X)
- Ankit Verma (ORCID: https://orcid.org/0000-0002-9791-4997)
- Carlo Giaccari (ORCID: https://orcid.org/0000-0002-5476-5362)
- Angela Sparago (ORCID: https://orcid.org/0000-0003-4352-945X)
- Francesco Cecere (ORCID: https://orcid.org/0000-0002-0329-0870)
- Andrea Riccio (ORCID: https://orcid.org/0000-0001-7990-3576)
- Laura Pignata (ORCID: https://orcid.org/0000-0001-8835-5567)
- Emilia D’Angelo (ORCID: https://orcid.org/0009-0001-1356-0395)
- Raissa Relator (ORCID: https://orcid.org/0000-0002-8153-2222)
- Flavia Cerrato (ORCID: https://orcid.org/0000-0003-3794-3021)
- Bekim Sadiković (ORCID: https://orcid.org/0000-0001-6363-0016)
- Subham Saha
- Michael A. Levy (ORCID: https://orcid.org/0000-0002-4188-2527)
- Abu Saadat (ORCID: https://orcid.org/0000-0001-9636-2513)
- Haley McConkey
Institutions
- Western University (CA)
- University of Campania "Luigi Vanvitelli" (IT)
- London Health Sciences Centre (CA)
- Institute of Genetics and Biophysics (IT)
Publication Details
- Journal
- Epigenetics & Chromatin
- Published
- 2025-07-24
- DOI
- https://doi.org/10.1186/s13072-025-00612-7
- Citations
- 1
- Primary Topic
- Genetic Syndromes and Imprinting
- Type
- article
- Field-Weighted Citation Impact
- 1.82
Funders
- Genome Canada
- Ontario Genomics
- Government of Canada
- Ontario Genomics Institute
- Fondazione Telethon
- Ministero dell’Istruzione, dell’Università e della Ricerca
- Associazione Italiana per la Ricerca sul Cancro