218 results on '"Tavtigian, Sean"'
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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. Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel
4. Gene-specific ACMG/AMP classification criteria for germline APC variants: Recommendations from the ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel
5. ClinGen guidance for use of the PP1/BS4 co-segregation and PP4 phenotype specificity criteria for sequence variant pathogenicity classification
6. Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup
7. Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria
8. Comprehensive evaluation and efficient classification of BRCA1 RING domain missense substitutions
9. Identification of Individuals With Hereditary Cancer Risk Through Multiple Data Sources: A Population-Based Method Using the GARDE Platform and The Utah Population Database.
10. Two integrated and highly predictive functional analysis-based procedures for the classification of MSH6 variants in Lynch syndrome
11. Distinct Molecular Phenotype of Sporadic Colorectal Cancers Among Young Patients Based on Multiomics Analysis
12. A functional assay–based procedure to classify mismatch repair gene variants in Lynch syndrome
13. Mobile element insertions and associated structural variants in longitudinal breast cancer samples
14. Modeling the ACMG/AMP variant classification guidelines as a Bayesian classification framework
15. Whole-Genome Shotgun Assembly and Analysis of the Genome of Fugu rubripes
16. Pathogenic Germline Variants in Cancer Susceptibility Genes in Children and Young Adults With Rhabdomyosarcoma
17. Challenges and approaches to calibrating patient phenotype as evidence for cancer gene variant classification under ACMG/AMP guidelines.
18. Targeted germline sequencing of patients with three or more primary melanomas reveals high rate of pathogenic variants
19. Colorectal cancer prevention and intentions to use low-dose aspirin: A survey of 1000 U.S. adults aged 40–65
20. Pancreatic cancer as a sentinel for hereditary cancer predisposition
21. Clinical Multigene Panel Testing Identifies Racial and Ethnic Differences in Germline Pathogenic Variants Among Patients With Early-Onset Colorectal Cancer.
22. Supplement to: Gene-panel sequencing and the prediction of breast-cancer risk.
23. The Human Variome Project
24. Adding In Silico Assessment of Potential Splice Aberration to the Integrated Evaluation of BRCA Gene Unclassified Variants
25. No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implications for gene panel testing
26. Gene-Panel Sequencing and the Prediction of Breast-Cancer Risk
27. BRCA1 Circos: a visualisation resource for functional analysis of missense variants
28. Rare, Evolutionarily Unlikely Missense Substitutions in ATM Confer Increased Risk of Breast Cancer
29. Inherited Cancer Susceptibility Gene Sequence Variations Among Patients With Appendix Cancer.
30. A Cell Cycle Regulator Potentially Involved in Genesis of Many Tumor Types
31. A Strong Candidate for the Breast and Ovarian Cancer Susceptibility Gene BRCA1
32. Identification and characterization of novel SNPs in CHEK2 in Ashkenazi Jewish men with prostate cancer
33. Genetic variation in genes of the fatty acid synthesis pathway and breast cancer risk
34. Analysis of BRCA1/BRCA2 genes’ contribution to breast cancer susceptibility in high risk Jewish Ashkenazi women
35. A calibrated cell‐based functional assay to aid classification of MLH1 DNA mismatch repair gene variants.
36. An Analysis of Unclassified Missense Substitutions in Human BRCA1
37. Partnering in Oncogenetic Research – The INHERIT BRCAs Experience: Opportunities and Challenges
38. A Systematic Genetic Assessment of 1,433 Sequence Variants of Unknown Clinical Significance in the BRCA1 and BRCA2 Breast Cancer–Predisposition Genes
39. InSiGHT leads in the implementation of the Human Variome Project
40. Confirmation of the HPCX prostate cancer predisposition locus in large Utah prostate cancer pedigrees
41. Response to: Design of a Core Classification Process for DNA Mismatch Repair Variations of A Priori Unknown Functional Significance
42. A Multifactorial Likelihood Model for MMR Gene Variant Classification Incorporating Probabilities Based on Sequence Bioinformatics and Tumor Characteristics: A Report from the Colon Cancer Family Registry
43. Calibration of Multiple In Silico Tools for Predicting Pathogenicity of Mismatch Repair Gene Missense Substitutions
44. Pathological assessment of mismatch repair gene variants in Lynch syndrome: Past, present, and future
45. Integrated evaluation of CHD7 missense substitutions for CHARGE syndrome clinical genetics
46. Rare Germline Mutations in PALB2 and Breast Cancer Risk: A Population-Based Study
47. Classification of missense substitutions in the BRCA genes: A database dedicated to Ex-UVs
48. ENIGMA—Evidence-based network for the interpretation of germline mutant alleles: An international initiative to evaluate risk and clinical significance associated with sequence variation in BRCA1 and BRCA2 genes
49. A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS)
50. Splicing and multifactorial analysis of intronic BRCA1 and BRCA2 sequence variants identifies clinically significant splicing aberrations up to 12 nucleotides from the intron/exon boundary
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