Catalogue of inherited autosomal recessive disorders found amongst the Roma population of Europe
We have assembled a catalogue of inherited autosomal recessive disorders and 111 pathogenic variants found in the Roma population. We hope that this will assist the medical and scientific community to make prompt diagnoses and consider adaptation of a targeted genetic approach to facilitate timely and cost-effective diagnoses in this population.
Authors
- Athina Ververi (ORCID: https://orcid.org/0000-0002-8393-4444)
- Shauna Quinn
- Ratna Dua Puri (ORCID: https://orcid.org/0000-0003-2694-6147)
- Kathleen M. Gorman (ORCID: https://orcid.org/0000-0002-5488-1507)
- Ellen Crushell (ORCID: https://orcid.org/0000-0003-3768-8569)
- A Valladolid Walsh (ORCID: https://orcid.org/0000-0001-8745-6163)
- Anca Lelia Riza
- Janna Kenny (ORCID: https://orcid.org/0000-0002-2271-1941)
- Samarth Kulshrestha (ORCID: https://orcid.org/0000-0001-6749-3661)
- Sally Ann Lynch (ORCID: https://orcid.org/0000-0003-3540-1333)
- Nicola Walsh (ORCID: https://orcid.org/0000-0002-0077-3973)
- Ioana Streață
- Andrew Green (ORCID: https://orcid.org/0000-0003-4599-2915)
Institutions
- University of Medicine and Pharmacy of Craiova (RO)
- Children's Health Ireland at Crumlin (IE)
- Temple Street Children's University Hospital (IE)
- Papageorgiou General Hospital (GR)
- Sir Ganga Ram Hospital (IN)
- National Children’s Research Centre (IE)
- Our Lady's Hospital (IE)
Publication Details
- Journal
- European Journal of Medical Genetics
- Published
- 2024-12-19
- DOI
- https://doi.org/10.1016/j.ejmg.2024.104989
- Citations
- 3
- Primary Topic
- Romani and Gypsy Studies
- Type
- article
- Field-Weighted Citation Impact
- 2.55