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Brandon J Cushman

Showing results (1-10 of 6) with videos related to

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Human Mutation|October 13, 2018
Assessing the gene-disease association of 19 genes with the RASopathies using the ClinGen gene curation frameworkAndrew R Grant, Brandon J Cushman, Hélène Cavé, 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.
Pageof 1

Showing results (1-10 of 6) with videos related to

Sort By:
Pageof 1
Human Mutation|October 13, 2018
Assessing the gene-disease association of 19 genes with the RASopathies using the ClinGen gene curation frameworkAndrew R Grant, Brandon J Cushman, Hélène Cavé, 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.
Pageof 1