Tavtigian, Sean V.

A cell cycle regulator potentially involved in genesis of many tumor types

Kamb, A., Gruis, N. A., Weaver-Feldhaus, J., Liu, Q., Harshman, K., Tavtigian, S. V., Stockert, E., Day, R. S., Johnson, B. E., & Skolnick, M. H. (1994) · Science

Cancer-related Molecular PathwaysChromatin Remodeling and Cancer

Cited by 2,751

Impact of mutant p53 functional properties on TP53 mutation patterns and tumor phenotype: lessons from recent developments in the IARC TP53 database

Petitjean, A., Mathe, E., Kato, S., Ishioka, C., Tavtigian, S. V., Hainaut, P., & Olivier, M. (2007) · Human Mutation

Cancer-related Molecular PathwaysCancer Genomics and Diagnostics

Cited by 1,598

Whole-Genome Shotgun Assembly and Analysis of the Genome of Fugu rubripes

Aparicio, S., Chapman, J., Stupka, E., Putnam, N., Chia, J.-M., Dehal, P., Christoffels, A., Rash, S., Hoon, S., Smit, A., et al. (2002) · Science

Genomics and Phylogenetic StudiesChromosomal and Genetic Variations

Cited by 1,591

Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results

Plon, S. E., Eccles, D. M., Easton, D., Foulkes, W. D., Genuardi, M., Greenblatt, M. S., Hogervorst, F. B. L., Hoogerbrugge, N., Spurdle, A. B., Tavtigian, S. V., et al. (2008) · Human Mutation

BRCA gene mutations in cancerGenomics and Rare Diseases

Cited by 912

Modeling the ACMG/AMP variant classification guidelines as a Bayesian classification framework

Tavtigian, S. V., Greenblatt, M. S., Harrison, S. M., Nussbaum, R. L., Prabhu, S. A., Boucher, K. M., & Biesecker, L. G. (2018) · Genetics in Medicine

Genomics and Rare DiseasesBRCA gene mutations in cancer

Cited by 590

A Systematic Genetic Assessment of 1,433 Sequence Variants of Unknown Clinical Significance in the BRCA1 and BRCA2 Breast Cancer–Predisposition Genes

Easton, D. F., Deffenbaugh, A. M., Pruss, D., Frye, C., Wenstrup, R. J., Allen-Brady, K., Tavtigian, S. V., Monteiro, A. N. A., Iversen, E. S., Couch, F. J., et al. (2007) · The American Journal of Human Genetics

BRCA gene mutations in cancerGenomics and Rare Diseases

Cited by 455

In silico analysis of missense substitutions using sequence-alignment based methods

Tavtigian, S. V., Greenblatt, M. S., Lesueur, F., Byrnes, G. B., & for the IARC Unclassified Genetic Variants Working Group (2008) · Human Mutation

Genomics and Rare DiseasesBRCA gene mutations in cancer

Cited by 199

Detailed haplotype analysis at the TP53 locus in p.R337H mutation carriers in the population of Southern Brazil: evidence for a founder effect

Garritano, S., Gemignani, F., Palmero, E. I., Olivier, M., Martel-Planche, G., Le Calvez-Kelm, F., Brugiéres, L., Vargas, F. R., Brentani, R. R., Ashton-Prolla, P., et al. (2010) · Human Mutation

Genetic Associations and EpidemiologyCancer-related Molecular Pathways

Cited by 153

Calibration of Multiple In Silico Tools for Predicting Pathogenicity of Mismatch Repair Gene Missense Substitutions

Thompson, B. A., Greenblatt, M. S., Vallee, M. P., Herkert, J. C., Tessereau, C., Young, E. L., Adzhubey, I. A., Li, B., Bell, R., Feng, B., et al. (2013) · Human Mutation

Genomics and Rare DiseasesGenetic factors in colorectal cancer

Cited by 95