Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Amanda B Spurdle

Showing results (141-150 of 398) with videos related to

Pageof 40
Sort By:
Gynecologic Oncology|November 12, 2013
Serum HE4 as a prognostic marker in endometrial cancer--a population based studyDonal J Brennan, Andreas Hackethal, Alex M Metcalf, et al.
Journal of the National Cancer Institute|September 2, 2016
ResponseAmanda B Spurdle, Susan Domchek, Mark Robson, et al.
Genome Research|August 6, 2025
The SeqSplice multiplexed minigene splicing assay for characterization and quantitation of variant-induced <i>BRCA1</i> and <i>BRCA2</i> splice isoformsDaffodil M Canson, Michael T Parsons, Gemma Moir-Meyer, et al.
Human Mutation|February 26, 2016
Adding In Silico Assessment of Potential Splice Aberration to the Integrated Evaluation of BRCA Gene Unclassified VariantsMaxime P Vallée, Tonya L Di Sera, David A Nix, et al.
American Journal of Human Genetics|April 15, 2025
ACMG/AMP interpretation of BRCA1 missense variants: Structure-informed scores add evidence strength granularity to the PP3/BP4 computational evidenceLobna Ramadane-Morchadi, Nitsan Rotenberg, Ada Esteban-Sánchez, et al.
Human Molecular Genetics|June 20, 2014
Most common 'sporadic' cancers have a significant germline genetic componentYi Lu, Weronica E Ek, David Whiteman, et al.
Nature Communications|October 6, 2018
Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controlsYukihide Momozawa, Yusuke Iwasaki, Michael T Parsons, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 20, 2019
Classification of variants of uncertain significance in BRCA1 and BRCA2 using personal and family history of cancer from individuals in a large hereditary cancer multigene panel testing cohortHongyan Li, Holly LaDuca, Tina Pesaran, et al.
Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology|April 3, 2002
The BRCA2 372 HH genotype is associated with risk of breast cancer in Australian women under age 60 yearsAmanda B Spurdle, John L Hopper, Xiaoqing Chen, et al.
Human Mutation|March 7, 2019
A quantitative model to predict pathogenicity of missense variants in the TP53 geneCristina Fortuno, Arcadi Cipponi, Mandy L Ballinger, et al.
Pageof 40

Showing results (141-150 of 398) with videos related to

Sort By:
Pageof 40
Gynecologic Oncology|November 12, 2013
Serum HE4 as a prognostic marker in endometrial cancer--a population based studyDonal J Brennan, Andreas Hackethal, Alex M Metcalf, et al.
Journal of the National Cancer Institute|September 2, 2016
ResponseAmanda B Spurdle, Susan Domchek, Mark Robson, et al.
Genome Research|August 6, 2025
The SeqSplice multiplexed minigene splicing assay for characterization and quantitation of variant-induced <i>BRCA1</i> and <i>BRCA2</i> splice isoformsDaffodil M Canson, Michael T Parsons, Gemma Moir-Meyer, et al.
Human Mutation|February 26, 2016
Adding In Silico Assessment of Potential Splice Aberration to the Integrated Evaluation of BRCA Gene Unclassified VariantsMaxime P Vallée, Tonya L Di Sera, David A Nix, et al.
American Journal of Human Genetics|April 15, 2025
ACMG/AMP interpretation of BRCA1 missense variants: Structure-informed scores add evidence strength granularity to the PP3/BP4 computational evidenceLobna Ramadane-Morchadi, Nitsan Rotenberg, Ada Esteban-Sánchez, et al.
Human Molecular Genetics|June 20, 2014
Most common 'sporadic' cancers have a significant germline genetic componentYi Lu, Weronica E Ek, David Whiteman, et al.
Nature Communications|October 6, 2018
Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controlsYukihide Momozawa, Yusuke Iwasaki, Michael T Parsons, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 20, 2019
Classification of variants of uncertain significance in BRCA1 and BRCA2 using personal and family history of cancer from individuals in a large hereditary cancer multigene panel testing cohortHongyan Li, Holly LaDuca, Tina Pesaran, et al.
Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology|April 3, 2002
The BRCA2 372 HH genotype is associated with risk of breast cancer in Australian women under age 60 yearsAmanda B Spurdle, John L Hopper, Xiaoqing Chen, et al.
Human Mutation|March 7, 2019
A quantitative model to predict pathogenicity of missense variants in the TP53 geneCristina Fortuno, Arcadi Cipponi, Mandy L Ballinger, et al.
Pageof 40