MP
Michael Parsons
Research areas: Biochemistry, Genetics and Molecular Biology · Genetics · BRCA gene mutations in cancer · Genetic factors in colorectal cancer · Genomics and Rare Diseases
0000-0003-3242-8477
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Education
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Publications (74)
- P076: The ClinGen ENIGMA BRCA1/2 expert panel: A dynamic framework for evidence-based recommendations to improve classification criteria for variants in BRCA1/2 Save
- Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a pointsâbased ACMG/AMP approach Save
- PREDICT validity for prognosis of breast cancer patients with pathogenic BRCA1/2 variants Save
- Federated analysis of BRCA1 and BRCA2 variation in a Japanese cohort Save
- Breast cancer risks associated with missense variants in breast cancer susceptibility genes Save
- Cancer risks associated with BRCA1 and BRCA2 pathogenic variants Save
- Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers Save
- Expansion of cancer risk profile for BRCA1 and BRCA2 pathogenic variants Save
- Risks of breast and ovarian cancer for women harboring pathogenic missense variants in BRCA1 and BRCA2 compared with those harboring protein truncating variants Save
- SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing Save
- SpliceAI-10k calculator for the prediction of pseudoexonization, intron retention, and exon deletion Save
- Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants Save
- TRACEBACK: Testing of Historical Tubo-Ovarian Cancer Patients for Hereditary Risk Genes as a Cancer Prevention Strategy in Family Members Save
- The splicing effect of variants at branchpoint elements in cancer genes Save
- Value of the loss of heterozygosity to BRCA1 variant classification Save
- Considerations for using population frequency data in germline variant interpretation: Cancer syndrome genes as a model Save
- A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers Save
- Breast Cancer Risk Genes-Association Analysis in More than 113,000 Women. Save
- Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores Save
- Classification of genetic variants in hereditary cancer genes Save