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

Birgit Funke

Showing results (41-50 of 56) with videos related to

Pageof 6
Sort By:
Arteriosclerosis, Thrombosis, and Vascular Biology|August 28, 2010
Cardiovascular pathology in Hutchinson-Gilford progeria: correlation with the vascular pathology of agingMichelle Olive, Ingrid Harten, Richard Mitchell, et al.
Nature Biotechnology|March 13, 2019
Best practices for benchmarking germline small-variant calls in human genomesPeter Krusche, Len Trigg, Paul C Boutros, et al.
Nature Biotechnology|March 23, 2019
Author Correction: Best practices for benchmarking germline small-variant calls in human genomesPeter Krusche, Len Trigg, Paul C Boutros, et al.
American Journal of Human Genetics|January 5, 2019
Using High-Resolution Variant Frequencies Empowers Clinical Genome Interpretation and Enables Investigation of Genetic ArchitectureNicola Whiffin, Angharad M Roberts, Eric Minikel, et al.
Archives of Pathology & Laboratory Medicine|August 26, 2014
College of American Pathologists' laboratory standards for next-generation sequencing clinical testsNazneen Aziz, Qin Zhao, Lynn Bry, et al.
Human Mutation|June 10, 2020
An assessment of the role of vinculin loss of function variants in inherited cardiomyopathyMegan H Hawley, Naif Almontashiri, Leslie G Biesecker, et al.
Circulation. Genomic and Precision Medicine|January 26, 2019
Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy GenesJodie Ingles, Jennifer Goldstein, Courtney Thaxton, et al.
American Journal of Human Genetics|August 31, 2023
The penetrance of rare variants in cardiomyopathy-associated genes: A cross-sectional approach to estimating penetrance for secondary findingsKathryn A McGurk, Xiaolei Zhang, Pantazis Theotokis, et al.
Human Mutation|October 13, 2018
ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene-level specification of the ACMG/AMP guidelines for sequence variant interpretationEdgar A Rivera-Muñoz, Laura V Milko, Steven M Harrison, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 5, 2018
Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen's Inherited Cardiomyopathy Expert PanelMelissa A Kelly, Colleen Caleshu, Ana Morales, et al.
Pageof 6

Showing results (41-50 of 56) with videos related to

Sort By:
Pageof 6
Arteriosclerosis, Thrombosis, and Vascular Biology|August 28, 2010
Cardiovascular pathology in Hutchinson-Gilford progeria: correlation with the vascular pathology of agingMichelle Olive, Ingrid Harten, Richard Mitchell, et al.
Nature Biotechnology|March 13, 2019
Best practices for benchmarking germline small-variant calls in human genomesPeter Krusche, Len Trigg, Paul C Boutros, et al.
Nature Biotechnology|March 23, 2019
Author Correction: Best practices for benchmarking germline small-variant calls in human genomesPeter Krusche, Len Trigg, Paul C Boutros, et al.
American Journal of Human Genetics|January 5, 2019
Using High-Resolution Variant Frequencies Empowers Clinical Genome Interpretation and Enables Investigation of Genetic ArchitectureNicola Whiffin, Angharad M Roberts, Eric Minikel, et al.
Archives of Pathology & Laboratory Medicine|August 26, 2014
College of American Pathologists' laboratory standards for next-generation sequencing clinical testsNazneen Aziz, Qin Zhao, Lynn Bry, et al.
Human Mutation|June 10, 2020
An assessment of the role of vinculin loss of function variants in inherited cardiomyopathyMegan H Hawley, Naif Almontashiri, Leslie G Biesecker, et al.
Circulation. Genomic and Precision Medicine|January 26, 2019
Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy GenesJodie Ingles, Jennifer Goldstein, Courtney Thaxton, et al.
American Journal of Human Genetics|August 31, 2023
The penetrance of rare variants in cardiomyopathy-associated genes: A cross-sectional approach to estimating penetrance for secondary findingsKathryn A McGurk, Xiaolei Zhang, Pantazis Theotokis, et al.
Human Mutation|October 13, 2018
ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene-level specification of the ACMG/AMP guidelines for sequence variant interpretationEdgar A Rivera-Muñoz, Laura V Milko, Steven M Harrison, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 5, 2018
Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen's Inherited Cardiomyopathy Expert PanelMelissa A Kelly, Colleen Caleshu, Ana Morales, et al.
Pageof 6