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- 2020
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Mark
Cancer risks associated with germline PALB2 pathogenic variants : An international study of 524 families
(
- Contribution to journal › Article
- 2019
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Mark
Alternative transcript imbalance underlying breast cancer susceptibility in a family carrying PALB2 c.3201+5G>T
(
- Contribution to journal › Article
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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
- 2018
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Mark
Multigene panel testing beyond BRCA1/2 in breast/ovarian cancer Spanish families and clinical actionability of findings
(
- Contribution to journal › Article
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Mark
Computational Tools for Splicing Defect Prediction in Breast/Ovarian Cancer Genes : How Efficient Are They at Predicting RNA Alterations?
(
- Contribution to journal › Article
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Mark
Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations
(
- 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
(
- Contribution to journal › Article
- 2016
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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
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Mark
Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170.
2016) In Nature Genetics(
- Contribution to journal › Article
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Mark
Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer
(
- Contribution to journal › Article