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Andrea M Oza

Showing results (1-10 of 11) with videos related to

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European Journal of Medical Genetics|April 16, 2018
Analysis of intragenic USH2A copy number variation unveils broad spectrum of unique and recurrent variantsChristina A Austin-Tse, Diana L Mandelker, Andrea M Oza, et al.
Molecular Genetics & Genomic Medicine|June 21, 2019
Prenatal cytogenomic identification and molecular refinement of compound heterozygous STRC deletion breakpointsLisong Shi, Yan Bai, Yara Kharbutli, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 13, 2015
Improving hearing loss gene testing: a systematic review of gene evidence toward more efficient next-generation sequencing-based diagnostic testing and interpretationAhmad N Abou Tayoun, Saeed H Al Turki, Andrea M Oza, 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|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.
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.
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.
European Journal of Human Genetics : EJHG|January 5, 2021
A synonymous variant in MYO15A enriched in the Ashkenazi Jewish population causes autosomal recessive hearing loss due to abnormal splicingYoel Hirsch, Chayada Tangshewinsirikul, Kevin T Booth, 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|February 23, 2025
ClinGen recuration of hearing loss-associated genes demonstrates significant changes in gene-disease validity over timeKezang C Tshering, Marina T DiStefano, Andrea M Oza, et al.
Pageof 2

Showing results (1-10 of 11) with videos related to

Sort By:
Pageof 2
European Journal of Medical Genetics|April 16, 2018
Analysis of intragenic USH2A copy number variation unveils broad spectrum of unique and recurrent variantsChristina A Austin-Tse, Diana L Mandelker, Andrea M Oza, et al.
Molecular Genetics & Genomic Medicine|June 21, 2019
Prenatal cytogenomic identification and molecular refinement of compound heterozygous STRC deletion breakpointsLisong Shi, Yan Bai, Yara Kharbutli, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 13, 2015
Improving hearing loss gene testing: a systematic review of gene evidence toward more efficient next-generation sequencing-based diagnostic testing and interpretationAhmad N Abou Tayoun, Saeed H Al Turki, Andrea M Oza, 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|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.
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.
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.
European Journal of Human Genetics : EJHG|January 5, 2021
A synonymous variant in MYO15A enriched in the Ashkenazi Jewish population causes autosomal recessive hearing loss due to abnormal splicingYoel Hirsch, Chayada Tangshewinsirikul, Kevin T Booth, 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|February 23, 2025
ClinGen recuration of hearing loss-associated genes demonstrates significant changes in gene-disease validity over timeKezang C Tshering, Marina T DiStefano, Andrea M Oza, et al.
Pageof 2