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

Michael T Parsons

Showing results (21-30 of 85) with videos related to

Pageof 9
Sort By:
Frontiers in Genetics|December 6, 2019
Comprehensive Assessment of <i>BARD1</i> Messenger Ribonucleic Acid Splicing With Implications for Variant ClassificationLogan C Walker, Vanessa Lilian Lattimore, Anders Kvist, et al.
Medrxiv : the Preprint Server for Health Sciences|March 3, 2023
APPLICATION OF THE ACMG/AMP FRAMEWORK TO CAPTURE EVIDENCE RELEVANT TO PREDICTED AND OBSERVED IMPACT ON SPLICING: RECOMMENDATIONS FROM THE CLINGEN SVI SPLICING SUBGROUPLogan C Walker, Miguel de la Hoya, George A R Wiggins, et al.
American Journal of Human Genetics|June 23, 2023
Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing SubgroupLogan C Walker, Miguel de la Hoya, George A R Wiggins, et al.
JAMA Oncology|April 14, 2022
Expansion of Cancer Risk Profile for BRCA1 and BRCA2 Pathogenic VariantsYukihide Momozawa, Rumi Sasai, Yoshiaki Usui, et al.
Journal of Medical Genetics|April 10, 2019
Towards controlled terminology for reporting germline cancer susceptibility variants: an ENIGMA reportAmanda B Spurdle, Stephanie Greville-Heygate, Antonis C Antoniou, 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.
Breast Cancer Research : BCR|January 9, 2024
Male with an apparently normal phenotype carrying a BRCA1 exon 20 duplication in trans to a BRCA1 frameshift variantInes Block, Àngels Mateu-Regué, Thi Tuyet Nhu Do, et al.
NPJ Breast Cancer|January 18, 2022
Value of the loss of heterozygosity to BRCA1 variant classificationElizabeth Santana Dos Santos, Amanda B Spurdle, Dirce M Carraro, et al.
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology|December 11, 2013
Tumor mismatch repair immunohistochemistry and DNA MLH1 methylation testing of patients with endometrial cancer diagnosed at age younger than 60 years optimizes triage for population-level germline mismatch repair gene mutation testingDaniel D Buchanan, Yen Y Tan, Michael D Walsh, et al.
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology|June 11, 2014
Reply to J. Moline et alDaniel D Buchanan, Yen Y Tan, Michael D Walsh, et al.
Pageof 9

Showing results (21-30 of 85) with videos related to

Sort By:
Pageof 9
Frontiers in Genetics|December 6, 2019
Comprehensive Assessment of <i>BARD1</i> Messenger Ribonucleic Acid Splicing With Implications for Variant ClassificationLogan C Walker, Vanessa Lilian Lattimore, Anders Kvist, et al.
Medrxiv : the Preprint Server for Health Sciences|March 3, 2023
APPLICATION OF THE ACMG/AMP FRAMEWORK TO CAPTURE EVIDENCE RELEVANT TO PREDICTED AND OBSERVED IMPACT ON SPLICING: RECOMMENDATIONS FROM THE CLINGEN SVI SPLICING SUBGROUPLogan C Walker, Miguel de la Hoya, George A R Wiggins, et al.
American Journal of Human Genetics|June 23, 2023
Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing SubgroupLogan C Walker, Miguel de la Hoya, George A R Wiggins, et al.
JAMA Oncology|April 14, 2022
Expansion of Cancer Risk Profile for BRCA1 and BRCA2 Pathogenic VariantsYukihide Momozawa, Rumi Sasai, Yoshiaki Usui, et al.
Journal of Medical Genetics|April 10, 2019
Towards controlled terminology for reporting germline cancer susceptibility variants: an ENIGMA reportAmanda B Spurdle, Stephanie Greville-Heygate, Antonis C Antoniou, 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.
Breast Cancer Research : BCR|January 9, 2024
Male with an apparently normal phenotype carrying a BRCA1 exon 20 duplication in trans to a BRCA1 frameshift variantInes Block, Àngels Mateu-Regué, Thi Tuyet Nhu Do, et al.
NPJ Breast Cancer|January 18, 2022
Value of the loss of heterozygosity to BRCA1 variant classificationElizabeth Santana Dos Santos, Amanda B Spurdle, Dirce M Carraro, et al.
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology|December 11, 2013
Tumor mismatch repair immunohistochemistry and DNA MLH1 methylation testing of patients with endometrial cancer diagnosed at age younger than 60 years optimizes triage for population-level germline mismatch repair gene mutation testingDaniel D Buchanan, Yen Y Tan, Michael D Walsh, et al.
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology|June 11, 2014
Reply to J. Moline et alDaniel D Buchanan, Yen Y Tan, Michael D Walsh, et al.
Pageof 9