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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
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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
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Mark
Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants : An ENIGMA resource to support clinical variant classification
(
- Contribution to journal › Article
- 2018
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Mark
Computational Tools for Splicing Defect Prediction in Breast/Ovarian Cancer Genes : How Efficient Are They at Predicting RNA Alterations?
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- Contribution to journal › Article
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Mark
Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations
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- Contribution to journal › Article
- 2017
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Mark
Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression : identification of a modifier of breast cancer risk at locus 11q22.3
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- Contribution to journal › Article
- 2016
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Mark
BRCA2 gene mutations and coagulation-associated biomarkers
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- Contribution to journal › Article
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Mark
Inheritance of deleterious mutations at both BRCA1 and BRCA2 in an international sample of 32,295 women
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- Contribution to journal › Article