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

Steven M Harrison

Showing results (21-30 of 63) with videos related to

Pageof 7
Sort By:
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 5, 2018
Modeling the ACMG/AMP variant classification guidelines as a Bayesian classification frameworkSean V Tavtigian, Marc S Greenblatt, Steven M Harrison, et al.
Human Mutation|June 15, 2013
Genetic abnormalities in FOXP1 are associated with congenital heart defectsSheng-Wei Chang, Mona Mislankar, Chaitali Misra, et al.
American Journal of Human Genetics|December 16, 2023
ClinGen guidance for use of the PP1/BS4 co-segregation and PP4 phenotype specificity criteria for sequence variant pathogenicity classificationLeslie G Biesecker, Alicia B Byrne, Steven M Harrison, et al.
Human Mutation|May 24, 2018
ClinVar Miner: Demonstrating utility of a Web-based tool for viewing and filtering ClinVar dataAlex Henrie, Sarah E Hemphill, Nicole Ruiz-Schultz, et al.
Frontiers in Endocrinology|October 16, 2019
Insulin-Like Peptide 3 (INSL3) Serum Concentration During Human Male Fetal LifeSteven M Harrison, Nicol Corbin Bush, Yi Wang, et al.
HGG Advances|January 20, 2022
Low frequency of treatable pediatric disease alleles in gnomAD: An opportunity for future genomic screening of newbornsNina B Gold, Steven M Harrison, Jared H Rowe, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 17, 2017
Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVarSteven M Harrison, Jill S Dolinsky, Amy E Knight Johnson, et al.
American Journal of Human Genetics|June 10, 2022
A calibrated functional patch-clamp assay to enhance clinical variant interpretation in KCNH2-related long QT syndromeConnie Jiang, Ebony Richardson, Jessica Farr, et al.
American Journal of Medical Genetics. Part A|August 7, 2013
Screening and familial characterization of copy-number variations in NR5A1 in 46,XY disorders of sex development and premature ovarian failureSteven M Harrison, Ian M Campbell, Melise Keays, et al.
Current Protocols in Human Genetics|April 3, 2016
Using ClinVar as a Resource to Support Variant InterpretationSteven M Harrison, Erin R Riggs, Donna R Maglott, et al.
Pageof 7

Showing results (21-30 of 63) with videos related to

Sort By:
Pageof 7
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 5, 2018
Modeling the ACMG/AMP variant classification guidelines as a Bayesian classification frameworkSean V Tavtigian, Marc S Greenblatt, Steven M Harrison, et al.
Human Mutation|June 15, 2013
Genetic abnormalities in FOXP1 are associated with congenital heart defectsSheng-Wei Chang, Mona Mislankar, Chaitali Misra, et al.
American Journal of Human Genetics|December 16, 2023
ClinGen guidance for use of the PP1/BS4 co-segregation and PP4 phenotype specificity criteria for sequence variant pathogenicity classificationLeslie G Biesecker, Alicia B Byrne, Steven M Harrison, et al.
Human Mutation|May 24, 2018
ClinVar Miner: Demonstrating utility of a Web-based tool for viewing and filtering ClinVar dataAlex Henrie, Sarah E Hemphill, Nicole Ruiz-Schultz, et al.
Frontiers in Endocrinology|October 16, 2019
Insulin-Like Peptide 3 (INSL3) Serum Concentration During Human Male Fetal LifeSteven M Harrison, Nicol Corbin Bush, Yi Wang, et al.
HGG Advances|January 20, 2022
Low frequency of treatable pediatric disease alleles in gnomAD: An opportunity for future genomic screening of newbornsNina B Gold, Steven M Harrison, Jared H Rowe, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 17, 2017
Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVarSteven M Harrison, Jill S Dolinsky, Amy E Knight Johnson, et al.
American Journal of Human Genetics|June 10, 2022
A calibrated functional patch-clamp assay to enhance clinical variant interpretation in KCNH2-related long QT syndromeConnie Jiang, Ebony Richardson, Jessica Farr, et al.
American Journal of Medical Genetics. Part A|August 7, 2013
Screening and familial characterization of copy-number variations in NR5A1 in 46,XY disorders of sex development and premature ovarian failureSteven M Harrison, Ian M Campbell, Melise Keays, et al.
Current Protocols in Human Genetics|April 3, 2016
Using ClinVar as a Resource to Support Variant InterpretationSteven M Harrison, Erin R Riggs, Donna R Maglott, et al.
Pageof 7