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Michael T Parsons

Showing results (31-40 of 85) with videos related to

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Cancer Medicine|August 28, 2024
Atypical cancer risk profile in carriers of Italian founder BRCA1 variant p.His1673del: Implications for classification and clinical managementGiovanni Innella, Cristina Fortuno, Laura Caleca, et al.
NPJ Breast Cancer|September 30, 2025
Polygenic risk score for breast cancer risk prediction in Asian BRCA1 and BRCA2 pathogenic variants carriersMei-Chee Tai, Joe Dennis, Sue K Park, et al.
Human Mutation|July 12, 2019
Assessment of blind predictions of the clinical significance of BRCA1 and BRCA2 variantsMelissa S Cline, Giulia Babbi, Sandra Bonache, et al.
Nucleic Acids Research|October 16, 2018
Corrigendum: Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effortRaphaël Leman, Pascaline Gaildrat, Gérald L Gac, et al.
Nucleic Acids Research|December 22, 2019
Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effortRaphaël Leman, Pascaline Gaildrat, Gérald Le Gac, et al.
Nucleic Acids Research|May 12, 2018
Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effortRaphaël Leman, Pascaline Gaildrat, Gérald Le Gac, et al.
Human Mutation|October 23, 2022
SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicingRaphaël Leman, Béatrice Parfait, Dominique Vidaud, et al.
Human Mutation|June 19, 2019
The spectrum of BRCA1 and BRCA2 pathogenic sequence variants in Middle Eastern, North African, and South European countriesYael Laitman, Tara M Friebel, Drakoulis Yannoukakos, et al.
European Journal of Human Genetics : EJHG|February 2, 2017
Evaluation of copy-number variants as modifiers of breast and ovarian cancer risk for BRCA1 pathogenic variant carriersLogan C Walker, Louise Marquart, John F Pearson, et al.
Human Mutation|September 12, 2018
BRCA1 and BRCA2 5' noncoding region variants identified in breast cancer patients alter promoter activity and protein bindingLeslie J Burke, Jan Sevcik, Gaetana Gambino, et al.
Pageof 9

Showing results (31-40 of 85) with videos related to

Sort By:
Pageof 9
Cancer Medicine|August 28, 2024
Atypical cancer risk profile in carriers of Italian founder BRCA1 variant p.His1673del: Implications for classification and clinical managementGiovanni Innella, Cristina Fortuno, Laura Caleca, et al.
NPJ Breast Cancer|September 30, 2025
Polygenic risk score for breast cancer risk prediction in Asian BRCA1 and BRCA2 pathogenic variants carriersMei-Chee Tai, Joe Dennis, Sue K Park, et al.
Human Mutation|July 12, 2019
Assessment of blind predictions of the clinical significance of BRCA1 and BRCA2 variantsMelissa S Cline, Giulia Babbi, Sandra Bonache, et al.
Nucleic Acids Research|October 16, 2018
Corrigendum: Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effortRaphaël Leman, Pascaline Gaildrat, Gérald L Gac, et al.
Nucleic Acids Research|December 22, 2019
Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effortRaphaël Leman, Pascaline Gaildrat, Gérald Le Gac, et al.
Nucleic Acids Research|May 12, 2018
Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effortRaphaël Leman, Pascaline Gaildrat, Gérald Le Gac, et al.
Human Mutation|October 23, 2022
SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicingRaphaël Leman, Béatrice Parfait, Dominique Vidaud, et al.
Human Mutation|June 19, 2019
The spectrum of BRCA1 and BRCA2 pathogenic sequence variants in Middle Eastern, North African, and South European countriesYael Laitman, Tara M Friebel, Drakoulis Yannoukakos, et al.
European Journal of Human Genetics : EJHG|February 2, 2017
Evaluation of copy-number variants as modifiers of breast and ovarian cancer risk for BRCA1 pathogenic variant carriersLogan C Walker, Louise Marquart, John F Pearson, et al.
Human Mutation|September 12, 2018
BRCA1 and BRCA2 5' noncoding region variants identified in breast cancer patients alter promoter activity and protein bindingLeslie J Burke, Jan Sevcik, Gaetana Gambino, et al.
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