Personalised penetrance estimation for <i>C9orf72</i>-related amyotrophic lateral sclerosis and frontotemporal dementia
Family history remains the best indicator of penetrance in <i>C9orf72</i> expansion carriers. Calculating family-specific penetrance can aid genetic counselling by allowing at-risk relatives a more accurate understanding of their individual risk.
Authors
- Kevin Talbot (ORCID: https://orcid.org/0000-0001-5490-1697)
- Andrew G. L. Douglas (ORCID: https://orcid.org/0000-0001-5154-6714)
- Martin R. Turner (ORCID: https://orcid.org/0000-0003-0267-3180)
- Alexander G. Thompson (ORCID: https://orcid.org/0000-0003-1063-3277)
Institutions
- University of Oxford (GB)
- Oxford University Hospitals NHS Trust (GB)
Publication Details
- Journal
- BMJ Neurology Open
- Published
- 2024-09-01
- DOI
- https://doi.org/10.1136/bmjno-2024-000792
- Citations
- 2
- Primary Topic
- Amyotrophic Lateral Sclerosis Research
- Type
- article
- Field-Weighted Citation Impact
- 0.74
Funders
- National Institute for Health and Care Research
- Motor Neurone Disease Association
- Medical Research Council
- NIHR Oxford Biomedical Research Centre