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Orion J Buske

Showing results (11-20 of 22) with videos related to

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Nature Structural & Molecular Biology|May 10, 2016
Lactase nonpersistence is directed by DNA-variation-dependent epigenetic agingViviane Labrie, Orion J Buske, Edward Oh, et al.
Orphanet Journal of Rare Diseases|May 10, 2023
Towards the international interoperability of clinical research networks for rare diseases: recommendations from the IRDiRC Task ForceRima Nabbout, Galliano Zanello, Dixie Baker, et al.
Human Mutation|August 8, 2015
PhenomeCentral: a portal for phenotypic and genotypic matchmaking of patients with rare genetic diseasesOrion J Buske, Marta Girdea, Sergiu Dumitriu, et al.
Human Mutation|February 19, 2022
Genomics4RD: An integrated platform to share Canadian deep-phenotype and multiomic data for international rare disease gene discoveryHannah G Driver, Taila Hartley, E Magda Price, et al.
Human Mutation|October 17, 2025
One-Sided Matching Portal (OSMP): A Tool to Facilitate Rare Disease Patient MatchmakingMatthew Osmond, E Magda Price, Orion J Buske, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 13, 2015
Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiencyWilliam P Bone, Nicole L Washington, Orion J Buske, et al.
Human Mutation|August 22, 2015
The Matchmaker Exchange: a platform for rare disease gene discoveryAnthony A Philippakis, Danielle R Azzariti, Sergi Beltran, 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.
Human Mutation|February 18, 2022
The RD-Connect Genome-Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseasesSteven Laurie, Davide Piscia, Leslie Matalonga, et al.
Nucleic Acids Research|December 1, 2016
The Human Phenotype Ontology in 2017Sebastian Köhler, Nicole A Vasilevsky, Mark Engelstad, et al.
Pageof 3

Showing results (11-20 of 22) with videos related to

Sort By:
Pageof 3
Nature Structural & Molecular Biology|May 10, 2016
Lactase nonpersistence is directed by DNA-variation-dependent epigenetic agingViviane Labrie, Orion J Buske, Edward Oh, et al.
Orphanet Journal of Rare Diseases|May 10, 2023
Towards the international interoperability of clinical research networks for rare diseases: recommendations from the IRDiRC Task ForceRima Nabbout, Galliano Zanello, Dixie Baker, et al.
Human Mutation|August 8, 2015
PhenomeCentral: a portal for phenotypic and genotypic matchmaking of patients with rare genetic diseasesOrion J Buske, Marta Girdea, Sergiu Dumitriu, et al.
Human Mutation|February 19, 2022
Genomics4RD: An integrated platform to share Canadian deep-phenotype and multiomic data for international rare disease gene discoveryHannah G Driver, Taila Hartley, E Magda Price, et al.
Human Mutation|October 17, 2025
One-Sided Matching Portal (OSMP): A Tool to Facilitate Rare Disease Patient MatchmakingMatthew Osmond, E Magda Price, Orion J Buske, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 13, 2015
Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiencyWilliam P Bone, Nicole L Washington, Orion J Buske, et al.
Human Mutation|August 22, 2015
The Matchmaker Exchange: a platform for rare disease gene discoveryAnthony A Philippakis, Danielle R Azzariti, Sergi Beltran, 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.
Human Mutation|February 18, 2022
The RD-Connect Genome-Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseasesSteven Laurie, Davide Piscia, Leslie Matalonga, et al.
Nucleic Acids Research|December 1, 2016
The Human Phenotype Ontology in 2017Sebastian Köhler, Nicole A Vasilevsky, Mark Engelstad, et al.
Pageof 3