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- 2022
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Mark
Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants : Application of a points-based ACMG/AMP approach
(
- Contribution to journal › Article
- 2016
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Mark
BRCA2 Polymorphic Stop Codon K3326X and the Risk of Breast, Prostate, and Ovarian Cancers
(
- Contribution to journal › Article
- 2015
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Mark
Identification of six new susceptibility loci for invasive epithelial ovarian cancer
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- Contribution to journal › Article
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Mark
FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor.
(
- Contribution to journal › Article
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Mark
Candidate genetic modifiers for breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers.
(
- Contribution to journal › Article