Rezultaty - Sean V. Tavtigian

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  1. 1
    Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral

    Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral od Sean V. Tavtigian

    Wydane 2005
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  2. 2
    In silico analysis of missense substitutions using sequence-alignment based methods

    In silico analysis of missense substitutions using sequence-alignment based methods od Sean V. Tavtigian, Marc S. Greenblatt, Fabienne Lesueur, Graham Byrnes

    Wydane 2008
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  3. 3
    Assessing pathogenicity: overview of results from the IARC Unclassified Genetic Variants Working Group

    Assessing pathogenicity: overview of results from the IARC Unclassified Genetic Variants Working Group od Sean V. Tavtigian, Marc S. Greenblatt, David E. Goldgar, Paolo Boffetta

    Wydane 2008
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  4. 4
    Classification of rare missense substitutions, using risk surfaces, with genetic- and molecular-epidemiology applications

    Classification of rare missense substitutions, using risk surfaces, with genetic- and molecular-epidemiology applications od Sean V. Tavtigian, Graham Byrnes, David E. Goldgar, Alun Thomas

    Wydane 2008
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  5. 5
    Genetic predisposition to colorectal cancer: syndromes, genes, classification of genetic variants and implications for precision medicine

    Genetic predisposition to colorectal cancer: syndromes, genes, classification of genetic variants and implications for precision medicine od Laura Valle, Eduardo Vilar, Sean V. Tavtigian, Elena M. Stoffel

    Wydane 2018
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  6. 6
    Fitting a naturally scaled point system to the ACMG/AMP variant classification guidelines

    Fitting a naturally scaled point system to the ACMG/AMP variant classification guidelines od Sean V. Tavtigian, Steven M. Harrison, Kenneth M. Boucher, Leslie G. Biesecker

    Wydane 2020
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  7. 7
    RAD51 Interacts with the Evolutionarily Conserved BRC Motifs in the Human Breast Cancer Susceptibility Gene brca2

    RAD51 Interacts with the Evolutionarily Conserved BRC Motifs in the Human Breast Cancer Susceptibility Gene brca2 od Alexander Wong, Ralph Pero, Patricia A. Ormonde, Sean V. Tavtigian, Paul L. Bartel

    Wydane 1997
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  8. 8
    Computational approaches for predicting the biological effect of p53 missense mutations: a comparison of three sequence analysis based methods

    Computational approaches for predicting the biological effect of p53 missense mutations: a comparison of three sequence analysis based methods od Ewy A. Mathé, Magali Olivier, Shunsuke Kato, Chikashi Ishioka, Pierre Hainaut, Sean V. Tavtigian

    Wydane 2006
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  9. 9
    BRCA1/2 Sequence Variants of Uncertain Significance: A Primer for Providers to Assist in Discussions and in Medical Management

    BRCA1/2 Sequence Variants of Uncertain Significance: A Primer for Providers to Assist in Discussions and in Medical Management od Noralane M. Lindor, David E. Goldgar, Sean V. Tavtigian, Sharon E. Plon, Fergus J. Couch

    Wydane 2013
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  10. 10
    A Computational Method to Classify Variants of Uncertain Significance Using Functional Assay Data with Application to <i>BRCA1</i>

    A Computational Method to Classify Variants of Uncertain Significance Using Functional Assay Data with Application to <i>BRCA1</i> od Edwin S. Iversen, Fergus J. Couch, David E. Goldgar, Sean V. Tavtigian, Álvaro N.A. Monteiro

    Wydane 2011
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  11. 11
    Impact of mutant p53 functional properties on<i>TP53</i>mutation patterns and tumor phenotype: lessons from recent developments in the IARC TP53 database

    Impact of mutant p53 functional properties on<i>TP53</i>mutation patterns and tumor phenotype: lessons from recent developments in the IARC TP53 database od Audrey Petitjean, Ewy A. Mathé, Shunsuke Kato, Chikashi Ishioka, Sean V. Tavtigian, Pierre Hainaut, Magali Olivier

    Wydane 2007
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  12. 12
    Integrated Evaluation of DNA Sequence Variants of Unknown Clinical Significance: Application to BRCA1 and BRCA2

    Integrated Evaluation of DNA Sequence Variants of Unknown Clinical Significance: Application to BRCA1 and BRCA2 od David E. Goldgar, Douglas F. Easton, Amie M. Deffenbaugh, Álvaro N.A. Monteiro, Sean V. Tavtigian, Fergus J. Couch

    Wydane 2004
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  13. 13
    Modeling the ACMG/AMP variant classification guidelines as a Bayesian classification framework

    Modeling the ACMG/AMP variant classification guidelines as a Bayesian classification framework od Sean V. Tavtigian, Marc S. Greenblatt, Steven M. Harrison, Robert L. Nussbaum, Snehit Prabhu, Kenneth M. Boucher, Leslie G. Biesecker

    Wydane 2018
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  14. 14
    Pathological assessment of mismatch repair gene variants in Lynch syndrome: Past, present, and future

    Pathological assessment of mismatch repair gene variants in Lynch syndrome: Past, present, and future od Lene Juel Rasmussen, Christopher D. Heinen, Brigitte Royer‐Pokora, Mark Drost, Sean V. Tavtigian, Robert M.W. Hofstra, Niels de Wind

    Wydane 2012
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  15. 15
    Prostate cancer susceptibility genes: lessons learned and challenges posed.

    Prostate cancer susceptibility genes: lessons learned and challenges posed. od Jacques Simard, Martine Dumont, Damian Labuda, Daniel Sinnett, Catherine Meloche, Mohamed Elalfy, Louise Berger, Emma Lees, Fernand Labrie, Sean V. Tavtigian

    Wydane 2003
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  16. 16
    Molecular characterization of breast cancer in young Brazilian women

    Molecular characterization of breast cancer in young Brazilian women od Leda Viegas de Carvalho, Emílio M. Pereira, Lucien Frappart, Mathieu Boniol, Wanderley Marques Bernardo, Vicente Tarricone, Sean V. Tavtigian, Melissa C. Southey

    Wydane 2010
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  17. 17
    A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS)

    A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS) od Noralane M. Lindor, Lucia Guidugli, Xianshu Wang, Maxime Vallée, Álvaro N.A. Monteiro, Sean V. Tavtigian, David E. Goldgar, Fergus J. Couch

    Wydane 2011
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  18. 18
    Classification of missense substitutions in the BRCA genes: A database dedicated to Ex-UVs

    Classification of missense substitutions in the BRCA genes: A database dedicated to Ex-UVs od Maxime Vallée, Tiana C. Francy, Megan K. Judkins, Davit Babikyan, Fabienne Lesueur, Amanda Gammon, David E. Goldgar, Fergus J. Couch, Sean V. Tavtigian

    Wydane 2011
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  19. 19
    Determining the effectiveness of High Resolution Melting analysis for SNP genotyping and mutation scanning at the TP53 locus

    Determining the effectiveness of High Resolution Melting analysis for SNP genotyping and mutation scanning at the TP53 locus od Sonia Garritano, Federica Gemignani, Catherine Voegele, Tú Nguyen‐Dumont, Florence Le Calvez‐Kelm, Deepika de Silva, Fabienne Lesueur, Stefano Landi, Sean V. Tavtigian

    Wydane 2009
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  20. 20
    ClinGen guidance for use of the PP1/BS4 co-segregation and PP4 phenotype specificity criteria for sequence variant pathogenicity classification

    ClinGen guidance for use of the PP1/BS4 co-segregation and PP4 phenotype specificity criteria for sequence variant pathogenicity classification od Leslie G. Biesecker, Alicia B. Byrne, Steven M Harrison, Tina Pesaran, Alejandro A. Schäffer, Brian H. Shirts, Sean V Tavtigian, Heidi L Rehm

    Wydane 2023
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