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Heidi L Rehm

Showing results (81-90 of 342) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 20, 2025
Equity-focused implementation to enhance access to rare disease genomic research and understand diverse perspectivesEva Martinez, Jillian Serrano, Siwaar Abouhala, et al.
Medrxiv : the Preprint Server for Health Sciences|November 28, 2024
Distinct rates of VUS reclassification are observed when subclassifying VUS by evidence levelGwendolyn Bennett, Izabela Karbassi, Wenjie Chen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 4, 2025
Distinct rates of VUS reclassification are observed when subclassifying VUS by evidence levelGwendolyn Bennett, Izabela Karbassi, Wenjie Chen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 8, 2022
Clinical evaluation and etiologic diagnosis of hearing loss: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)Marilyn M Li, Ahmad Abou Tayoun, Marina DiStefano, et al.
American Journal of Human Genetics|September 6, 2024
Implementation of a dyadic nomenclature for monogenic diseasesCourtney Thaxton, Leslie G Biesecker, Marina DiStefano, et al.
Medrxiv : the Preprint Server for Health Sciences|April 10, 2023
Advancing Understanding of Inequities in Rare Disease GenomicsJillian G Serrano, Melanie O'Leary, Grace VanNoy, et al.
Cell Genomics|June 27, 2022
Lumping versus splitting: How to approach defining a disease to enable accurate genomic curationCourtney Thaxton, Jennifer Goldstein, Marina DiStefano, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 20, 2017
Recurrent variants in OTOF are significant contributors to prelingual nonsydromic hearing loss in Saudi patientsNaif A M Almontashiri, Abdulrahman Alswaid, Andrea Oza, et al.
The New England Journal of Medicine|April 12, 2008
Shared genetic causes of cardiac hypertrophy in children and adultsHiroyuki Morita, Heidi L Rehm, Andres Menesses, et al.
American Journal of Human Genetics|December 16, 2023
ClinGen guidance for use of the PP1/BS4 co-segregation and PP4 phenotype specificity criteria for sequence variant pathogenicity classificationLeslie G Biesecker, Alicia B Byrne, Steven M Harrison, et al.
Pageof 35

Showing results (81-90 of 342) with videos related to

Sort By:
Pageof 35
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 20, 2025
Equity-focused implementation to enhance access to rare disease genomic research and understand diverse perspectivesEva Martinez, Jillian Serrano, Siwaar Abouhala, et al.
Medrxiv : the Preprint Server for Health Sciences|November 28, 2024
Distinct rates of VUS reclassification are observed when subclassifying VUS by evidence levelGwendolyn Bennett, Izabela Karbassi, Wenjie Chen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 4, 2025
Distinct rates of VUS reclassification are observed when subclassifying VUS by evidence levelGwendolyn Bennett, Izabela Karbassi, Wenjie Chen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 8, 2022
Clinical evaluation and etiologic diagnosis of hearing loss: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)Marilyn M Li, Ahmad Abou Tayoun, Marina DiStefano, et al.
American Journal of Human Genetics|September 6, 2024
Implementation of a dyadic nomenclature for monogenic diseasesCourtney Thaxton, Leslie G Biesecker, Marina DiStefano, et al.
Medrxiv : the Preprint Server for Health Sciences|April 10, 2023
Advancing Understanding of Inequities in Rare Disease GenomicsJillian G Serrano, Melanie O'Leary, Grace VanNoy, et al.
Cell Genomics|June 27, 2022
Lumping versus splitting: How to approach defining a disease to enable accurate genomic curationCourtney Thaxton, Jennifer Goldstein, Marina DiStefano, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 20, 2017
Recurrent variants in OTOF are significant contributors to prelingual nonsydromic hearing loss in Saudi patientsNaif A M Almontashiri, Abdulrahman Alswaid, Andrea Oza, et al.
The New England Journal of Medicine|April 12, 2008
Shared genetic causes of cardiac hypertrophy in children and adultsHiroyuki Morita, Heidi L Rehm, Andres Menesses, et al.
American Journal of Human Genetics|December 16, 2023
ClinGen guidance for use of the PP1/BS4 co-segregation and PP4 phenotype specificity criteria for sequence variant pathogenicity classificationLeslie G Biesecker, Alicia B Byrne, Steven M Harrison, et al.
Pageof 35