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- 2019
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Mark
EPCAM mutation update : Variants associated with congenital tufting enteropathy and Lynch syndrome
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- Contribution to journal › Article
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Mark
Checklist for gene/disease-specific variation database curators to enable ethical data management
(
- 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
Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations
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- Contribution to journal › Article
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Mark
Germline variation in the oxidative DNA repair genes NUDT1 and OGG1 is not associated with hereditary colorectal cancer or polyposis
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- Contribution to journal › Article
- 2017
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Mark
How to Define Pathogenicity, Health, and Disease?
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- Contribution to journal › Article
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Mark
One Gene, Several Diseases : The Characteristics of Pleiotropic Proteins
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- Contribution to journal › Debate/Note/Editorial
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Mark
PON-P and PON-P2 predictor performance in CAGI challenges : Lessons learned
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- Contribution to journal › Article
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Mark
Working toward precision medicine : Predicting phenotypes from exomes in the Critical Assessment of Genome Interpretation (CAGI) challenges
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- Contribution to journal › Article
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Mark
Performance of in silico tools for the evaluation of p16INK4a (CDKN2A) variants in CAGI
(
- Contribution to journal › Article