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- 2019
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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
Whole-genome sequencing of triple-negative breast cancers in a population-based clinical study
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- Contribution to journal › Article
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Mark
High patient satisfaction with a simplified BRCA1/2 testing procedure : long-term results of a prospective study
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- Contribution to journal › Article
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Mark
High-definition spatial transcriptomics for in situ tissue profiling
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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
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Mark
Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer
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- Contribution to journal › Article
- 2018
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Mark
Germline mutations in BRCA1 and BRCA2 incidentally revealed in a biobank research study : experiences from re-contacting mutation carriers and relatives
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- Contribution to journal › Article
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Mark
The BRCA1 c. 5096G>A p.Arg1699Gln (R1699Q) intermediate risk variant : Breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortium
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- Contribution to journal › Article
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Mark
BRCAsearch : written pre-test information and BRCA1/2 germline mutation testing in unselected patients with newly diagnosed breast cancer
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- Contribution to journal › Article
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Mark
Accuracy of self-reported family history of cancer, mutation status and tumor characteristics in patients with early onset breast cancer
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- Contribution to journal › Article