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Bryony A Thompson

Showing results (21-30 of 45) with videos related to

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BMC Cancer|June 28, 2018
Pancreatic cancer as a sentinel for hereditary cancer predispositionErin L Young, Bryony A Thompson, Deborah W Neklason, et al.
Familial Cancer|April 3, 2017
Elucidating the clinical significance of two PMS2 missense variants coexisting in a family fulfilling hereditary cancer criteriaMaribel González-Acosta, Jesús Del Valle, Matilde Navarro, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 8, 2018
Determining the clinical validity of hereditary colorectal cancer and polyposis susceptibility genes using the Clinical Genome Resource Clinical Validity FrameworkBryce A Seifert, Jennifer L McGlaughon, Sarah A Jackson, et al.
Human Mutation|September 16, 2016
Assessment of the InSiGHT Interpretation Criteria for the Clinical Classification of 24 MLH1 and MSH2 Gene VariantsRossella Tricarico, Mariann Kasela, Cristina Mareni, et al.
American Journal of Human Genetics|June 6, 2022
Comprehensive evaluation and efficient classification of BRCA1 RING domain missense substitutionsKathleen A Clark, Andrew Paquette, Kayoko Tao, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 23, 2020
Two integrated and highly predictive functional analysis-based procedures for the classification of MSH6 variants in Lynch syndromeMark Drost, Yvonne Tiersma, Dylan Glubb, et al.
Human Mutation|April 14, 2025
Specifications of the ACMG/AMP Variant Curation Guidelines for Hereditary Hemorrhagic Telangiectasia Genes-<i>ENG</i> and <i>ACVRL1</i>Desiree DeMille, Jamie McDonald, Carmelo Bernabeu, et al.
Human Mutation|April 15, 2015
Evaluation of CADD Scores in Curated Mismatch Repair Gene Variants Yields a Model for Clinical Validation and PrioritizationK Joeri van der Velde, Joël Kuiper, Bryony A Thompson, et al.
Human Mutation|June 1, 2010
Detection of splicing aberrations caused by BRCA1 and BRCA2 sequence variants encoding missense substitutions: implications for prediction of pathogenicityLogan C Walker, Phillip J Whiley, Fergus J Couch, et al.
Human Mutation|September 6, 2012
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 RegistryBryony A Thompson, David E Goldgar, Carol Paterson, et al.
Pageof 5

Showing results (21-30 of 45) with videos related to

Sort By:
Pageof 5
BMC Cancer|June 28, 2018
Pancreatic cancer as a sentinel for hereditary cancer predispositionErin L Young, Bryony A Thompson, Deborah W Neklason, et al.
Familial Cancer|April 3, 2017
Elucidating the clinical significance of two PMS2 missense variants coexisting in a family fulfilling hereditary cancer criteriaMaribel González-Acosta, Jesús Del Valle, Matilde Navarro, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 8, 2018
Determining the clinical validity of hereditary colorectal cancer and polyposis susceptibility genes using the Clinical Genome Resource Clinical Validity FrameworkBryce A Seifert, Jennifer L McGlaughon, Sarah A Jackson, et al.
Human Mutation|September 16, 2016
Assessment of the InSiGHT Interpretation Criteria for the Clinical Classification of 24 MLH1 and MSH2 Gene VariantsRossella Tricarico, Mariann Kasela, Cristina Mareni, et al.
American Journal of Human Genetics|June 6, 2022
Comprehensive evaluation and efficient classification of BRCA1 RING domain missense substitutionsKathleen A Clark, Andrew Paquette, Kayoko Tao, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 23, 2020
Two integrated and highly predictive functional analysis-based procedures for the classification of MSH6 variants in Lynch syndromeMark Drost, Yvonne Tiersma, Dylan Glubb, et al.
Human Mutation|April 14, 2025
Specifications of the ACMG/AMP Variant Curation Guidelines for Hereditary Hemorrhagic Telangiectasia Genes-<i>ENG</i> and <i>ACVRL1</i>Desiree DeMille, Jamie McDonald, Carmelo Bernabeu, et al.
Human Mutation|April 15, 2015
Evaluation of CADD Scores in Curated Mismatch Repair Gene Variants Yields a Model for Clinical Validation and PrioritizationK Joeri van der Velde, Joël Kuiper, Bryony A Thompson, et al.
Human Mutation|June 1, 2010
Detection of splicing aberrations caused by BRCA1 and BRCA2 sequence variants encoding missense substitutions: implications for prediction of pathogenicityLogan C Walker, Phillip J Whiley, Fergus J Couch, et al.
Human Mutation|September 6, 2012
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 RegistryBryony A Thompson, David E Goldgar, Carol Paterson, et al.
Pageof 5