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Hana Snow

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

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Human Mutation|March 10, 2022
seqr: A web-based analysis and collaboration tool for rare disease genomicsLynn S Pais, Hana Snow, Ben Weisburd, 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.
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|February 8, 2024
Unique Capabilities of Genome Sequencing for Rare Disease DiagnosisMonica H Wojcik, Gabrielle Lemire, Maha S Zaki, et al.
Medrxiv : the Preprint Server for Health Sciences|July 3, 2026
Structural variant discovery and diagnostic impact in rare diseases from short-read and long-read sequencingAlba Sanchis-Juan, Yulia Mostovoy, Sarah L Stenton, et al.
The New England Journal of Medicine|June 5, 2024
Genome Sequencing for Diagnosing Rare DiseasesMonica H Wojcik, Gabrielle Lemire, Eva Berger, et al.
Pageof 1

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

Sort By:
Pageof 1
Human Mutation|March 10, 2022
seqr: A web-based analysis and collaboration tool for rare disease genomicsLynn S Pais, Hana Snow, Ben Weisburd, 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.
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|February 8, 2024
Unique Capabilities of Genome Sequencing for Rare Disease DiagnosisMonica H Wojcik, Gabrielle Lemire, Maha S Zaki, et al.
Medrxiv : the Preprint Server for Health Sciences|July 3, 2026
Structural variant discovery and diagnostic impact in rare diseases from short-read and long-read sequencingAlba Sanchis-Juan, Yulia Mostovoy, Sarah L Stenton, et al.
The New England Journal of Medicine|June 5, 2024
Genome Sequencing for Diagnosing Rare DiseasesMonica H Wojcik, Gabrielle Lemire, Eva Berger, et al.
Pageof 1