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- 2024
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Mark
Germline copy number variants and endometrial cancer risk
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- Contribution to journal › Article
- 2022
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Mark
Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers
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- Contribution to journal › Article
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Mark
Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants : Application of a points-based ACMG/AMP approach
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- Contribution to journal › Article
- 2019
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Mark
Targeted RNA-seq successfully identifies normal and pathogenic splicing events in breast/ovarian cancer susceptibility and Lynch syndrome genes
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- Contribution to journal › Article
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Mark
Comprehensive Assessment of BARD1 Messenger Ribonucleic Acid Splicing With Implications for Variant Classification
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- Contribution to journal › Article
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Mark
Alternative splicing and ACMG-AMP-2015-based classification of PALB2 genetic variants : An ENIGMA report
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- Contribution to journal › Article
- 2015
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Mark
Candidate genetic modifiers for breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers.
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- Contribution to journal › Article
- 2010
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Mark
Evidence for SMAD3 as a modifier of breast cancer risk in BRCA2 mutation carriers
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- Contribution to journal › Article