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S Ganesh

Showing results (301-310 of 315) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 13, 2024
Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing data setsBen Weisburd, Rakshya Sharma, Villem Pata, et al.
JAMA Neurology|July 24, 2023
Exome Sequencing and the Identification of New Genes and Shared Mechanisms in PolymicrogyriaShyam K Akula, Allen Y Chen, Jennifer E Neil, et al.
Biorxiv : the Preprint Server for Biology|June 4, 2026
Building an Interoperable Rare Disease Multi-omic Resource: The GREGoR Data Model and DatasetBenjamin D Heavner, Marsha M Wheeler, Jesse D Bengtsson, et al.
American Journal of Human Genetics|June 4, 2021
A form of muscular dystrophy associated with pathogenic variants in JAG2Sandra Coppens, Alison M Barnard, Sanna Puusepp, et al.
American Journal of Human Genetics|April 16, 2021
A form of muscular dystrophy associated with pathogenic variants in JAG2Sandra Coppens, Alison M Barnard, Sanna Puusepp, et al.
American Journal of Human Genetics|April 2, 2024
Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic diseaseGabrielle Lemire, Alba Sanchis-Juan, Kathryn Russell, et al.
Medrxiv : the Preprint Server for Health Sciences|October 24, 2023
Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic diseaseGabrielle Lemire, Alba Sanchis-Juan, Kathryn Russell, et al.
Human Genomics|April 29, 2024
Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes projectSarah L Stenton, Melanie C O'Leary, Gabrielle Lemire, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 20, 2026
RNU4ATAC-opathy: Clinical, molecular and transcriptomic insights from a large cohortDena R Matalon, Angela L Duker, Taylor M Arriaga, et al.
Medrxiv : the Preprint Server for Health Sciences|August 14, 2023
Critical assessment of variant prioritization methods for rare disease diagnosis within the Rare Genomes ProjectSarah L Stenton, Melanie O'Leary, Gabrielle Lemire, et al.
Pageof 32

Showing results (301-310 of 315) with videos related to

Sort By:
Pageof 32
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 13, 2024
Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing data setsBen Weisburd, Rakshya Sharma, Villem Pata, et al.
JAMA Neurology|July 24, 2023
Exome Sequencing and the Identification of New Genes and Shared Mechanisms in PolymicrogyriaShyam K Akula, Allen Y Chen, Jennifer E Neil, et al.
Biorxiv : the Preprint Server for Biology|June 4, 2026
Building an Interoperable Rare Disease Multi-omic Resource: The GREGoR Data Model and DatasetBenjamin D Heavner, Marsha M Wheeler, Jesse D Bengtsson, et al.
American Journal of Human Genetics|June 4, 2021
A form of muscular dystrophy associated with pathogenic variants in JAG2Sandra Coppens, Alison M Barnard, Sanna Puusepp, et al.
American Journal of Human Genetics|April 16, 2021
A form of muscular dystrophy associated with pathogenic variants in JAG2Sandra Coppens, Alison M Barnard, Sanna Puusepp, et al.
American Journal of Human Genetics|April 2, 2024
Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic diseaseGabrielle Lemire, Alba Sanchis-Juan, Kathryn Russell, et al.
Medrxiv : the Preprint Server for Health Sciences|October 24, 2023
Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic diseaseGabrielle Lemire, Alba Sanchis-Juan, Kathryn Russell, et al.
Human Genomics|April 29, 2024
Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes projectSarah L Stenton, Melanie C O'Leary, Gabrielle Lemire, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 20, 2026
RNU4ATAC-opathy: Clinical, molecular and transcriptomic insights from a large cohortDena R Matalon, Angela L Duker, Taylor M Arriaga, et al.
Medrxiv : the Preprint Server for Health Sciences|August 14, 2023
Critical assessment of variant prioritization methods for rare disease diagnosis within the Rare Genomes ProjectSarah L Stenton, Melanie O'Leary, Gabrielle Lemire, et al.
Pageof 32