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

Kristy Lee

Showing results (71-80 of 90) with videos related to

Pageof 9
Sort By:
Journal of Thrombosis and Haemostasis : JTH|November 28, 2023
Evaluating the clinical validity of genes related to hemostasis and thrombosis using the Clinical Genome Resource gene curation frameworkJustyne E Ross, Shruthi Mohan, Jing Zhang, et al.
JCO Precision Oncology|September 11, 2020
Implementation and Clinical Utility of an Integrated Academic-Community Regional Molecular Tumor BoardMark E Burkard, Dustin A Deming, Benjamin M Parsons, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 14, 2015
A semiquantitative metric for evaluating clinical actionability of incidental or secondary findings from genome-scale sequencingJonathan S Berg, Ann Katherine M Foreman, Julianne M O'Daniel, et al.
Journal of Medical Genetics|January 5, 2023
Optimising clinical care through <i>CDH1</i>-specific germline variant curation: improvement of clinical assertions and updated curation guidelinesXi Luo, Jamie L Maciaszek, Bryony A Thompson, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 6, 2018
Development of Clinical Domain Working Groups for the Clinical Genome Resource (ClinGen): lessons learned and plans for the futureLaura V Milko, Birgit H Funke, Ray E Hershberger, et al.
Human Mutation|December 10, 2020
Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variantsCristina Fortuno, Kristy Lee, Magali Olivier, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 29, 2016
A standardized, evidence-based protocol to assess clinical actionability of genetic disorders associated with genomic variationJessica Ezzell Hunter, Stephanie A Irving, Leslie G Biesecker, 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.
Human Mutation|October 13, 2018
Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline CDH1 sequence variantsKristy Lee, Kate Krempely, Maegan E Roberts, et al.
Human Mutation|October 13, 2018
Evidence-based assessments of clinical actionability in the context of secondary findings: Updates from ClinGen's Actionability Working GroupElizabeth M Webber, Jessica Ezzell Hunter, Leslie G Biesecker, et al.
Pageof 9

Showing results (71-80 of 90) with videos related to

Sort By:
Pageof 9
Journal of Thrombosis and Haemostasis : JTH|November 28, 2023
Evaluating the clinical validity of genes related to hemostasis and thrombosis using the Clinical Genome Resource gene curation frameworkJustyne E Ross, Shruthi Mohan, Jing Zhang, et al.
JCO Precision Oncology|September 11, 2020
Implementation and Clinical Utility of an Integrated Academic-Community Regional Molecular Tumor BoardMark E Burkard, Dustin A Deming, Benjamin M Parsons, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 14, 2015
A semiquantitative metric for evaluating clinical actionability of incidental or secondary findings from genome-scale sequencingJonathan S Berg, Ann Katherine M Foreman, Julianne M O'Daniel, et al.
Journal of Medical Genetics|January 5, 2023
Optimising clinical care through <i>CDH1</i>-specific germline variant curation: improvement of clinical assertions and updated curation guidelinesXi Luo, Jamie L Maciaszek, Bryony A Thompson, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 6, 2018
Development of Clinical Domain Working Groups for the Clinical Genome Resource (ClinGen): lessons learned and plans for the futureLaura V Milko, Birgit H Funke, Ray E Hershberger, et al.
Human Mutation|December 10, 2020
Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variantsCristina Fortuno, Kristy Lee, Magali Olivier, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 29, 2016
A standardized, evidence-based protocol to assess clinical actionability of genetic disorders associated with genomic variationJessica Ezzell Hunter, Stephanie A Irving, Leslie G Biesecker, 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.
Human Mutation|October 13, 2018
Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline CDH1 sequence variantsKristy Lee, Kate Krempely, Maegan E Roberts, et al.
Human Mutation|October 13, 2018
Evidence-based assessments of clinical actionability in the context of secondary findings: Updates from ClinGen's Actionability Working GroupElizabeth M Webber, Jessica Ezzell Hunter, Leslie G Biesecker, et al.
Pageof 9