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

Deborah I Ritter

Showing results (11-20 of 39) with videos related to

Pageof 4
Sort By:
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 29, 2020
Response to Maya et alErin Rooney Riggs, Erica F Andersen, Sibel Kantarci, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 1, 2023
Response to Spurdle et alErin R Riggs, Erica F Andersen, Sibel Kantarci, et al.
American Journal of Human Genetics|December 2, 2025
Interpreting the functional impact of genetic variants: The need for context qualifiersSimone Martinelli, Hélène Cavé, Alessandro De Luca, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 7, 2019
Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen)Erin Rooney Riggs, Erica F Andersen, Athena M Cherry, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 3, 2026
ClinGen Variant Curation Interface Workshops: Training Variant Scientists on an International PlatformDeborah I Ritter, Mark Mandell, Christine Preston, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 18, 2021
Correction: Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen)Erin Rooney Riggs, Erica F Andersen, Athena M Cherry, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 4, 2018
Clinical validity assessment of genes frequently tested on hereditary breast and ovarian cancer susceptibility sequencing panelsKristy Lee, Bryce A Seifert, Hermela Shimelis, et al.
Source Code for Biology and Medicine|June 23, 2016
SV-STAT accurately detects structural variation via alignment to reference-based assembliesCaleb F Davis, Deborah I Ritter, David A Wheeler, et al.
Cancer Genetics|April 2, 2022
Standardized evidence-based approach for assessment of oncogenic and clinical significance of NTRK fusionsJason Saliba, Alanna J Church, Shruti Rao, et al.
Human Mutation|October 13, 2018
The clinical imperative for inclusivity: Race, ethnicity, and ancestry (REA) in genomicsAlice B Popejoy, Deborah I Ritter, Kristy Crooks, et al.
Pageof 4

Showing results (11-20 of 39) with videos related to

Sort By:
Pageof 4
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 29, 2020
Response to Maya et alErin Rooney Riggs, Erica F Andersen, Sibel Kantarci, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 1, 2023
Response to Spurdle et alErin R Riggs, Erica F Andersen, Sibel Kantarci, et al.
American Journal of Human Genetics|December 2, 2025
Interpreting the functional impact of genetic variants: The need for context qualifiersSimone Martinelli, Hélène Cavé, Alessandro De Luca, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 7, 2019
Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen)Erin Rooney Riggs, Erica F Andersen, Athena M Cherry, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 3, 2026
ClinGen Variant Curation Interface Workshops: Training Variant Scientists on an International PlatformDeborah I Ritter, Mark Mandell, Christine Preston, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 18, 2021
Correction: Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen)Erin Rooney Riggs, Erica F Andersen, Athena M Cherry, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 4, 2018
Clinical validity assessment of genes frequently tested on hereditary breast and ovarian cancer susceptibility sequencing panelsKristy Lee, Bryce A Seifert, Hermela Shimelis, et al.
Source Code for Biology and Medicine|June 23, 2016
SV-STAT accurately detects structural variation via alignment to reference-based assembliesCaleb F Davis, Deborah I Ritter, David A Wheeler, et al.
Cancer Genetics|April 2, 2022
Standardized evidence-based approach for assessment of oncogenic and clinical significance of NTRK fusionsJason Saliba, Alanna J Church, Shruti Rao, et al.
Human Mutation|October 13, 2018
The clinical imperative for inclusivity: Race, ethnicity, and ancestry (REA) in genomicsAlice B Popejoy, Deborah I Ritter, Kristy Crooks, et al.
Pageof 4