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Sarah E Hemphill

Showing results (1-10 of 10) with videos related to

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Cold Spring Harbor Molecular Case Studies|June 28, 2018
Reclassification of the <i>BRAF</i> p.Ile208Val variant by case-level data sharingAndrew R Grant, Sarah E Hemphill, Lisa M Vincent, et al.
Human Mutation|October 13, 2018
The progression of the ClinGen gene clinical validity classification over timeJennifer L McGlaughon, Jennifer L Goldstein, Courtney Thaxton, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 24, 2019
A survey assessing adoption of the ACMG-AMP guidelines for interpreting sequence variants and identification of areas for continued improvementAnnie Niehaus, Danielle R Azzariti, 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.
The Journal of Molecular Diagnostics : JMD|August 11, 2018
Curating Clinically Relevant Transcripts for the Interpretation of Sequence VariantsMarina T DiStefano, Sarah E Hemphill, Brandon J Cushman, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 22, 2019
ClinGen expert clinical validity curation of 164 hearing loss gene-disease pairsMarina T DiStefano, Sarah E Hemphill, Andrea M Oza, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 23, 2019
Correction: ClinGen expert clinical validity curation of 164 hearing loss gene-disease pairsMarina T DiStefano, Sarah E Hemphill, Andrea M Oza, et al.
Human Mutation|October 13, 2018
Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing lossAndrea M Oza, Marina T DiStefano, Sarah E Hemphill, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 7, 2021
Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing lossMayher J Patel, Marina T DiStefano, Andrea M Oza, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 5, 2019
Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert PanelJun Shen, Andrea M Oza, Ignacio Del Castillo, et al.
Pageof 1

Showing results (1-10 of 10) with videos related to

Sort By:
Pageof 1
Cold Spring Harbor Molecular Case Studies|June 28, 2018
Reclassification of the <i>BRAF</i> p.Ile208Val variant by case-level data sharingAndrew R Grant, Sarah E Hemphill, Lisa M Vincent, et al.
Human Mutation|October 13, 2018
The progression of the ClinGen gene clinical validity classification over timeJennifer L McGlaughon, Jennifer L Goldstein, Courtney Thaxton, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 24, 2019
A survey assessing adoption of the ACMG-AMP guidelines for interpreting sequence variants and identification of areas for continued improvementAnnie Niehaus, Danielle R Azzariti, 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.
The Journal of Molecular Diagnostics : JMD|August 11, 2018
Curating Clinically Relevant Transcripts for the Interpretation of Sequence VariantsMarina T DiStefano, Sarah E Hemphill, Brandon J Cushman, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 22, 2019
ClinGen expert clinical validity curation of 164 hearing loss gene-disease pairsMarina T DiStefano, Sarah E Hemphill, Andrea M Oza, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 23, 2019
Correction: ClinGen expert clinical validity curation of 164 hearing loss gene-disease pairsMarina T DiStefano, Sarah E Hemphill, Andrea M Oza, et al.
Human Mutation|October 13, 2018
Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing lossAndrea M Oza, Marina T DiStefano, Sarah E Hemphill, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 7, 2021
Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing lossMayher J Patel, Marina T DiStefano, Andrea M Oza, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 5, 2019
Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert PanelJun Shen, Andrea M Oza, Ignacio Del Castillo, et al.
Pageof 1