25 results on '"Pesaran, Tina"'
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2. Gene-specific ACMG/AMP classification criteria for germline APC variants: Recommendations from the ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel
3. The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change
4. Suspected clonal hematopoiesis as a natural functional assay of TP53 germline variant pathogenicity
5. Quantifying evidence toward pathogenicity for rare phenotypes: The case of succinate dehydrogenase genes, SDHB and SDHD
6. Classification of variants of uncertain significance in BRCA1 and BRCA2 using personal and family history of cancer from individuals in a large hereditary cancer multigene panel testing cohort
7. A clinical guide to hereditary cancer panel testing: evaluation of gene-specific cancer associations and sensitivity of genetic testing criteria in a cohort of 165,000 high-risk patients
8. Recommendations for risk allele evidence curation, classification, and reporting from the ClinGen Low Penetrance/Risk Allele Working Group
9. Assessment of the evidence yield for the calibrated PP3/BP4 computational recommendations
10. DNA breakpoint assay reveals a majority of gross duplications occur in tandem reducing VUS classifications in breast cancer predisposition genes
11. Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients
12. Somatic TP53 variants frequently confound germ-line testing results
13. Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar
14. Suspected clonal hematopoiesis as a natural functional assay of TP53germline variant pathogenicity
15. Quantifying evidence toward pathogenicity for rare phenotypes: The case of succinate dehydrogenase genes, SDHBand SDHD
16. Correction: DNA breakpoint assay reveals a majority of gross duplications occur in tandem reducing VUS classifications in breast cancer predisposition genes
17. DNA breakpoint assay reveals a majority of gross duplications occur in tandem reducing VUS classifications in breast cancer predisposition genes
18. Advocating for the consumer: clinical confirmation of all direct-to-consumer raw data alterations remains critical
19. Classification of variants of uncertain significance in BRCA1and BRCA2using personal and family history of cancer from individuals in a large hereditary cancer multigene panel testing cohort
20. Assessment of the evidence yield for the calibrated PP3/BP4 computational recommendations
21. Correction: DNA breakpoint assay reveals a majority of gross duplications occur in tandem reducing VUS classifications in breast cancer predisposition genes
22. Advocating for the consumer: clinical confirmation of all direct-to-consumer raw data alterations remains critical
23. The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change
24. Gene-specific ACMG/AMP classification criteria for germline APCvariants: recommendations from the ClinGen InSiGHT Hereditary Colorectal Cancer / Polyposis Variant Curation Expert Panel
25. Recommendations for Risk Allele Evidence Curation, Classification, and Reporting from the ClinGen Low Penetrance/Risk Allele Working Group
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