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Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 8, 2018
Determining the clinical validity of hereditary colorectal cancer and polyposis susceptibility genes using the Clinical Genome Resource Clinical Validity Framework
Bryce A Seifert, Jennifer L McGlaughon, Sarah A Jackson, et al.
Journal of the American Medical Informatics Association : JAMIA
|
September 11, 2024
Experiences in providing a community educational resource for the All of Us Researcher Workbench
Deborah I Ritter, Jinyoung Byun, Jun Wang, et al.
Human Mutation
|
October 13, 2018
Integrating somatic variant data and biomarkers for germline variant classification in cancer predisposition genes
Michael F Walsh, Deborah I Ritter, Chimene Kesserwan, et al.
American Journal of Human Genetics
|
June 7, 2020
Clinical Genetics Lacks Standard Definitions and Protocols for the Collection and Use of Diversity Measures
Alice B Popejoy, Kristy R Crooks, Stephanie M Fullerton, et al.
Genome Medicine
|
November 6, 2016
Somatic cancer variant curation and harmonization through consensus minimum variant level data
Deborah I Ritter, Sameek Roychowdhury, Angshumoy Roy, et al.
American Journal of Human Genetics
|
January 10, 2025
Design and implementation of an action plan for justice, equity, diversity, and inclusion within the Clinical Genome Resource
Alice B Popejoy, Deborah I Ritter, Danielle Azzariti, et al.
Human Mutation
|
October 13, 2018
Adapting crowdsourced clinical cancer curation in CIViC to the ClinGen minimum variant level data community-driven standards
Arpad M Danos, Deborah I Ritter, Alex H Wagner, et al.
Cell Genomics
|
April 9, 2026
ClinGen API platform for classification of human genetic variants
Neethu Shah, Tierra Farris, Arturo Alejandro Zuniga, et al.
Genome Medicine
|
November 30, 2019
Standard operating procedure for curation and clinical interpretation of variants in cancer
Arpad M Danos, Kilannin Krysiak, Erica K Barnell, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 3, 2026
Multi-Platform Curation in the Development of ACMG/AMP Specifications for Von Hippel-Lindau (VHL) Disease
Deborah I Ritter, Chansonette Badduke, Kurston Doonanco, et al.
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of 4
Search research articles
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Showing results (21-30 of 39) with videos related to
Sort By:
Page
of 4
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 8, 2018
Determining the clinical validity of hereditary colorectal cancer and polyposis susceptibility genes using the Clinical Genome Resource Clinical Validity Framework
Bryce A Seifert, Jennifer L McGlaughon, Sarah A Jackson, et al.
Journal of the American Medical Informatics Association : JAMIA
|
September 11, 2024
Experiences in providing a community educational resource for the All of Us Researcher Workbench
Deborah I Ritter, Jinyoung Byun, Jun Wang, et al.
Human Mutation
|
October 13, 2018
Integrating somatic variant data and biomarkers for germline variant classification in cancer predisposition genes
Michael F Walsh, Deborah I Ritter, Chimene Kesserwan, et al.
American Journal of Human Genetics
|
June 7, 2020
Clinical Genetics Lacks Standard Definitions and Protocols for the Collection and Use of Diversity Measures
Alice B Popejoy, Kristy R Crooks, Stephanie M Fullerton, et al.
Genome Medicine
|
November 6, 2016
Somatic cancer variant curation and harmonization through consensus minimum variant level data
Deborah I Ritter, Sameek Roychowdhury, Angshumoy Roy, et al.
American Journal of Human Genetics
|
January 10, 2025
Design and implementation of an action plan for justice, equity, diversity, and inclusion within the Clinical Genome Resource
Alice B Popejoy, Deborah I Ritter, Danielle Azzariti, et al.
Human Mutation
|
October 13, 2018
Adapting crowdsourced clinical cancer curation in CIViC to the ClinGen minimum variant level data community-driven standards
Arpad M Danos, Deborah I Ritter, Alex H Wagner, et al.
Cell Genomics
|
April 9, 2026
ClinGen API platform for classification of human genetic variants
Neethu Shah, Tierra Farris, Arturo Alejandro Zuniga, et al.
Genome Medicine
|
November 30, 2019
Standard operating procedure for curation and clinical interpretation of variants in cancer
Arpad M Danos, Kilannin Krysiak, Erica K Barnell, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 3, 2026
Multi-Platform Curation in the Development of ACMG/AMP Specifications for Von Hippel-Lindau (VHL) Disease
Deborah I Ritter, Chansonette Badduke, Kurston Doonanco, et al.
Page
of 4