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M Caputo

Showing results (341-350 of 361) with videos related to

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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.
Journal of Medical Genetics|February 4, 2015
BRCA1 Circos: a visualisation resource for functional analysis of missense variantsAnkita Jhuraney, Aneliya Velkova, Randall C Johnson, et al.
Cancer Research|July 10, 2020
Calibration of Pathogenicity Due to Variant-Induced Leaky Splicing Defects by Using <i>BRCA2</i> Exon 3 as a Model SystemHélène Tubeuf, Sandrine M Caputo, Teresa Sullivan, et al.
Frontiers in Oncology|November 16, 2018
GEMO, a National Resource to Study Genetic Modifiers of Breast and Ovarian Cancer Risk in <i>BRCA1</i> and <i>BRCA2</i> Pathogenic Variant CarriersFabienne Lesueur, Noura Mebirouk, Yue Jiao, et al.
Human Mutation|September 17, 2016
BRCA Share: A Collection of Clinical BRCA Gene VariantsChristophe Béroud, Stanley I Letovsky, Corey D Braastad, 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.
American Journal of Human Genetics|August 14, 2024
Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert PanelMichael T Parsons, Miguel de la Hoya, Marcy E Richardson, et al.
Journal of Medical Genetics|May 12, 2017
The <i>BRCA1</i> c. 5096G>A p.Arg1699Gln (R1699Q) intermediate risk variant: breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortiumSetareh Moghadasi, Huong D Meeks, Maaike Pg Vreeswijk, et al.
European Journal of Cancer (Oxford, England : 1990)|December 12, 2022
Association and performance of polygenic risk scores for breast cancer among French women presenting or not a familial predisposition to the diseaseYue Jiao, Thérèse Truong, Séverine Eon-Marchais, et al.
Pageof 37

Showing results (341-350 of 361) with videos related to

Sort By:
Pageof 37
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.
Journal of Medical Genetics|February 4, 2015
BRCA1 Circos: a visualisation resource for functional analysis of missense variantsAnkita Jhuraney, Aneliya Velkova, Randall C Johnson, et al.
Cancer Research|July 10, 2020
Calibration of Pathogenicity Due to Variant-Induced Leaky Splicing Defects by Using <i>BRCA2</i> Exon 3 as a Model SystemHélène Tubeuf, Sandrine M Caputo, Teresa Sullivan, et al.
Frontiers in Oncology|November 16, 2018
GEMO, a National Resource to Study Genetic Modifiers of Breast and Ovarian Cancer Risk in <i>BRCA1</i> and <i>BRCA2</i> Pathogenic Variant CarriersFabienne Lesueur, Noura Mebirouk, Yue Jiao, et al.
Human Mutation|September 17, 2016
BRCA Share: A Collection of Clinical BRCA Gene VariantsChristophe Béroud, Stanley I Letovsky, Corey D Braastad, 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.
American Journal of Human Genetics|August 14, 2024
Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert PanelMichael T Parsons, Miguel de la Hoya, Marcy E Richardson, et al.
Journal of Medical Genetics|May 12, 2017
The <i>BRCA1</i> c. 5096G>A p.Arg1699Gln (R1699Q) intermediate risk variant: breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortiumSetareh Moghadasi, Huong D Meeks, Maaike Pg Vreeswijk, et al.
European Journal of Cancer (Oxford, England : 1990)|December 12, 2022
Association and performance of polygenic risk scores for breast cancer among French women presenting or not a familial predisposition to the diseaseYue Jiao, Thérèse Truong, Séverine Eon-Marchais, et al.
Pageof 37