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- 2023
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Mark
Exome sequencing identifies breast cancer susceptibility genes and defines the contribution of coding variants to breast cancer risk
(
- Contribution to journal › Article
- 2022
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Mark
Breast cancer risks associated with missense variants in breast cancer susceptibility genes
(
- Contribution to journal › Article
- 2020
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Mark
Comprehensive molecular comparison of BRCA1 hypermethylated and BRCA1 mutated triple negative breast cancers
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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
Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants : An ENIGMA resource to support clinical variant classification
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- Contribution to journal › Article
- 2018
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Mark
Individuals with FANCM biallelic mutations do not develop Fanconi anemia, but show risk for breast cancer, chemotherapy toxicity and may display chromosome fragility
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- Contribution to journal › Article
- 2017
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Mark
Expanding the genotype–phenotype spectrum in hereditary colorectal cancer by gene panel testing
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- Contribution to journal › Article
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Mark
Case-control analysis of truncating mutations in DNA damage response genes connects TEX15 and FANCD2 with hereditary breast cancer susceptibility
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- Contribution to journal › Article
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Mark
Frequent miRNA-convergent fusion gene events in breast cancer
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- Contribution to journal › Article