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Heidi L Rehm

Showing results (111-120 of 342) with videos related to

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The New England Journal of Medicine|August 18, 2016
Genetic Misdiagnoses and the Potential for Health DisparitiesArjun K Manrai, Birgit H Funke, Heidi L Rehm, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 12, 2018
Professional responsibilities regarding the provision, publication, and dissemination of patient phenotypes in the context of clinical genetic and genomic testing: points to consider-a statement of the American College of Medical Genetics and Genomics (ACMG)Lynn W Bush, Anita E Beck, Leslie G Biesecker, et al.
Human Mutation|October 25, 2021
Utilizing ClinGen gene-disease validity and dosage sensitivity curations to inform variant classificationCourtney Thaxton, Molly E Good, Marina T DiStefano, et al.
Transfusion|December 5, 2015
Comprehensive red blood cell and platelet antigen prediction from whole genome sequencing: proof of principleWilliam J Lane, Connie M Westhoff, Jon Michael Uy, 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.
American Journal of Human Genetics|July 2, 2019
Analyzing and Reanalyzing the Genome: Findings from the MedSeq ProjectKalotina Machini, Ozge Ceyhan-Birsoy, Danielle R Azzariti, et al.
Clinical Therapeutics|July 30, 2023
Advancing Understanding of Inequities in Rare Disease GenomicsJillian G Serrano, Melanie O'Leary, Grace E VanNoy, et al.
HGG Advances|February 22, 2025
Male proband with intractable seizures and a de novo start-codon-disrupting variant in GLULElizabeth Carbonell, Sarah L Stenton, Vijay S Ganesh, et al.
The Journal of Molecular Diagnostics : JMD|August 27, 2014
Comprehensive diagnostic testing for stereocilin: an approach for analyzing medically important genes with high homologyDiana Mandelker, Sami S Amr, Trevor Pugh, et al.
Journal of General Internal Medicine|January 6, 2026
Evaluating the Acceptability of Virtual Preventive Genetic Counseling Supporting Adult Primary Care PracticesLeland E Hull, Suzanne Brodney, Susan Regan, et al.
Pageof 35

Showing results (111-120 of 342) with videos related to

Sort By:
Pageof 35
The New England Journal of Medicine|August 18, 2016
Genetic Misdiagnoses and the Potential for Health DisparitiesArjun K Manrai, Birgit H Funke, Heidi L Rehm, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 12, 2018
Professional responsibilities regarding the provision, publication, and dissemination of patient phenotypes in the context of clinical genetic and genomic testing: points to consider-a statement of the American College of Medical Genetics and Genomics (ACMG)Lynn W Bush, Anita E Beck, Leslie G Biesecker, et al.
Human Mutation|October 25, 2021
Utilizing ClinGen gene-disease validity and dosage sensitivity curations to inform variant classificationCourtney Thaxton, Molly E Good, Marina T DiStefano, et al.
Transfusion|December 5, 2015
Comprehensive red blood cell and platelet antigen prediction from whole genome sequencing: proof of principleWilliam J Lane, Connie M Westhoff, Jon Michael Uy, 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.
American Journal of Human Genetics|July 2, 2019
Analyzing and Reanalyzing the Genome: Findings from the MedSeq ProjectKalotina Machini, Ozge Ceyhan-Birsoy, Danielle R Azzariti, et al.
Clinical Therapeutics|July 30, 2023
Advancing Understanding of Inequities in Rare Disease GenomicsJillian G Serrano, Melanie O'Leary, Grace E VanNoy, et al.
HGG Advances|February 22, 2025
Male proband with intractable seizures and a de novo start-codon-disrupting variant in GLULElizabeth Carbonell, Sarah L Stenton, Vijay S Ganesh, et al.
The Journal of Molecular Diagnostics : JMD|August 27, 2014
Comprehensive diagnostic testing for stereocilin: an approach for analyzing medically important genes with high homologyDiana Mandelker, Sami S Amr, Trevor Pugh, et al.
Journal of General Internal Medicine|January 6, 2026
Evaluating the Acceptability of Virtual Preventive Genetic Counseling Supporting Adult Primary Care PracticesLeland E Hull, Suzanne Brodney, Susan Regan, et al.
Pageof 35