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Tudor Groza

Showing results (61-70 of 76) with videos related to

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Medrxiv : the Preprint Server for Health Sciences|March 17, 2025
GA4GH Phenopacket-Driven Characterization of Genotype-Phenotype Correlations in Mendelian DisordersLauren Rekerle, Daniel Danis, Filip Rehburg, et al.
Medrxiv : the Preprint Server for Health Sciences|June 10, 2024
A corpus of GA4GH Phenopackets: case-level phenotyping for genomic diagnostics and discoveryDaniel Danis, Michael J Bamshad, Yasemin Bridges, et al.
American Journal of Human Genetics|December 24, 2025
GA4GH phenopacket-driven characterization of genotype-phenotype correlations in Mendelian disordersLauren Rekerle, Daniel Danis, Filip Rehburg, et al.
HGG Advances|October 12, 2024
A corpus of GA4GH phenopackets: Case-level phenotyping for genomic diagnostics and discoveryDaniel Danis, Michael J Bamshad, Yasemin Bridges, et al.
Orphanet Journal of Rare Diseases|May 5, 2017
Initiating an undiagnosed diseases program in the Western Australian public health systemGareth Baynam, Stephanie Broley, Alicia Bauskis, et al.
Nature Biotechnology|June 15, 2022
The GA4GH Phenopacket schema defines a computable representation of clinical dataJulius O B Jacobsen, Michael Baudis, Gareth S Baynam, et al.
Frontiers in Genetics|August 17, 2019
Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva InitiativeChristoffer Nellåker, Fowzan S Alkuraya, Gareth Baynam, et al.
Advances in Experimental Medicine and Biology|December 8, 2017
Improved Diagnosis and Care for Rare Diseases through Implementation of Precision Public Health FrameworkGareth Baynam, Faye Bowman, Karla Lister, et al.
Nucleic Acids Research|November 9, 2019
The Monarch Initiative in 2019: an integrative data and analytic platform connecting phenotypes to genotypes across speciesKent A Shefchek, Nomi L Harris, Michael Gargano, et al.
Nucleic Acids Research|December 1, 2016
The Human Phenotype Ontology in 2017Sebastian Köhler, Nicole A Vasilevsky, Mark Engelstad, et al.
Pageof 8

Showing results (61-70 of 76) with videos related to

Sort By:
Pageof 8
Medrxiv : the Preprint Server for Health Sciences|March 17, 2025
GA4GH Phenopacket-Driven Characterization of Genotype-Phenotype Correlations in Mendelian DisordersLauren Rekerle, Daniel Danis, Filip Rehburg, et al.
Medrxiv : the Preprint Server for Health Sciences|June 10, 2024
A corpus of GA4GH Phenopackets: case-level phenotyping for genomic diagnostics and discoveryDaniel Danis, Michael J Bamshad, Yasemin Bridges, et al.
American Journal of Human Genetics|December 24, 2025
GA4GH phenopacket-driven characterization of genotype-phenotype correlations in Mendelian disordersLauren Rekerle, Daniel Danis, Filip Rehburg, et al.
HGG Advances|October 12, 2024
A corpus of GA4GH phenopackets: Case-level phenotyping for genomic diagnostics and discoveryDaniel Danis, Michael J Bamshad, Yasemin Bridges, et al.
Orphanet Journal of Rare Diseases|May 5, 2017
Initiating an undiagnosed diseases program in the Western Australian public health systemGareth Baynam, Stephanie Broley, Alicia Bauskis, et al.
Nature Biotechnology|June 15, 2022
The GA4GH Phenopacket schema defines a computable representation of clinical dataJulius O B Jacobsen, Michael Baudis, Gareth S Baynam, et al.
Frontiers in Genetics|August 17, 2019
Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva InitiativeChristoffer Nellåker, Fowzan S Alkuraya, Gareth Baynam, et al.
Advances in Experimental Medicine and Biology|December 8, 2017
Improved Diagnosis and Care for Rare Diseases through Implementation of Precision Public Health FrameworkGareth Baynam, Faye Bowman, Karla Lister, et al.
Nucleic Acids Research|November 9, 2019
The Monarch Initiative in 2019: an integrative data and analytic platform connecting phenotypes to genotypes across speciesKent A Shefchek, Nomi L Harris, Michael Gargano, et al.
Nucleic Acids Research|December 1, 2016
The Human Phenotype Ontology in 2017Sebastian Köhler, Nicole A Vasilevsky, Mark Engelstad, et al.
Pageof 8