Targeted exonic sequencing identifies novel variants in a cerebral small vessel disease cohort
This suggests that screening for all monogenic forms of CSVD when one monogenic form is clinically suspected may improve diagnosis in clinically suspected monogenic CSVD. However, despite these findings, the majority of NOTCH3 negative CSVD cases did not have candidate mutations in known CSVD genes, suggesting that additional genetic factors contributing to the disease are yet to be identified.
Authors
- Neven Maksemous (ORCID: https://orcid.org/0000-0002-4891-4333)
- Paul Joseph Dunn (ORCID: https://orcid.org/0000-0003-4753-7430)
- Larisa M. Haupt (ORCID: https://orcid.org/0000-0002-7735-8110)
- Robert A. Smith (ORCID: https://orcid.org/0000-0003-4825-2461)
- Lyn R. Griffiths (ORCID: https://orcid.org/0000-0002-6774-5475)
- Heidi G. Sutherland (ORCID: https://orcid.org/0000-0002-8512-1498)
Institutions
- Queensland University of Technology (AU)
Publication Details
- Journal
- Clinica Chimica Acta
- Published
- 2024-12-30
- DOI
- https://doi.org/10.1016/j.cca.2024.120120
- Citations
- 2
- Primary Topic
- Cerebrovascular and genetic disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.74