29 results on '"Tavtigian, Sean V."'
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2. Large-scale application of ClinGen-InSiGHT APC-specific ACMG/AMP variant classification criteria leads to substantial reduction in VUS
3. Gene-specific ACMG/AMP classification criteria for germline APC variants: Recommendations from the ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel
4. ClinGen guidance for use of the PP1/BS4 co-segregation and PP4 phenotype specificity criteria for sequence variant pathogenicity classification
5. Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup
6. Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria
7. Comprehensive evaluation and efficient classification of BRCA1 RING domain missense substitutions
8. Two integrated and highly predictive functional analysis-based procedures for the classification of MSH6 variants in Lynch syndrome
9. Distinct Molecular Phenotype of Sporadic Colorectal Cancers Among Young Patients Based on Multiomics Analysis
10. A functional assay–based procedure to classify mismatch repair gene variants in Lynch syndrome
11. Assessment of the evidence yield for the calibrated PP3/BP4 computational recommendations
12. Modeling the ACMG/AMP variant classification guidelines as a Bayesian classification framework
13. Correspondence on “Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen)” by Riggs et al
14. Rare, Evolutionarily Unlikely Missense Substitutions in ATM Confer Increased Risk of Breast Cancer
15. A Systematic Genetic Assessment of 1,433 Sequence Variants of Unknown Clinical Significance in the BRCA1 and BRCA2 Breast Cancer–Predisposition Genes
16. Impaired Ig class switch in mice deficient for the X-linked lymphoproliferative disease gene Sap
17. Integrated Evaluation of DNA Sequence Variants of Unknown Clinical Significance: Application to BRCA1 and BRCA2
18. Mutation Analyses of 268 Candidate Genes in Human Tumor Cell Lines
19. HPC2 Variants and Screen-Detected Prostate Cancer
20. Microdissection, DOP-PCR, and comparative genomic hybridization of paraffin-embedded familial prostate cancers
21. 447 Effect of COX and EGFR Inhibition on Duodenal Neoplasia in Familial Adenomatous Polyposis: a Randomized Placebo-Controlled Trial
22. 447 Effect of COX and EGFR Inhibition on Duodenal Neoplasia in Familial Adenomatous Polyposis: A Randomized Placebo-Controlled Trial
23. Meta-Analysis of Associations of the Ser217Leu and Ala541Thr Variants in ELAC2 ( HPC2) and Prostate Cancer
24. Genomic Structure, Chromosomal Location, and Mutation Analysis of the Human CDC14A Gene
25. Identification of Genetic Markers for the Outcome of Patients with Acute Myeloid Leukemia Treated with Cytarabine.
26. Localization of the VHR Phosphatase Gene and Its Analysis as a Candidate for BRCA1
27. Generation of an Integrated Transcription Map of theBRCA2Region on Chromosome 13q12–q13
28. RAD51 Interacts with the Evolutionarily Conserved BRC Motifs in the Human Breast Cancer Susceptibility Gene brca2
29. The Role of MMAC1 Mutations in Early-Onset Breast Cancer: Causative in Association with Cowden Syndrome and Excluded in BRCA1-Negative Cases
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