Novel <i>BBS1</i> deletion and <i>BBS9</i> nonsense pathogenic variant in Bardet-Biedl syndrome
All the novel variants identified fell into the pathogenic variant classification following ACMG/AMP criteria. This report highlights the role of whole exome and genome sequencing in unsolved cases.
Authors
- Erika Tavares (ORCID: https://orcid.org/0000-0002-5714-1766)
- Janice Min Li
- Jacque L. Duncan (ORCID: https://orcid.org/0000-0002-9593-6412)
- Elise Héon (ORCID: https://orcid.org/0000-0003-4143-9311)
- Ajoy Vincent (ORCID: https://orcid.org/0000-0001-6446-3846)
Institutions
- University of California, San Francisco (US)
- University of Toronto (CA)
- Hospital for Sick Children (CA)
- University of California System (US)
- SickKids Foundation (CA)
Publication Details
- Journal
- Ophthalmic Genetics
- Published
- 2024-12-01
- DOI
- https://doi.org/10.1080/13816810.2024.2434039
- Citations
- 1
- Primary Topic
- Genetic and Kidney Cyst Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.55
Funders
- Canadian Institutes of Health Research