Orion J Buske
5PUBLICATIONS
114CO-AUTHORS
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Publications (5)
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|Oct 21, 2024
Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon.Angelica Maria Delgado-Vega, Helene Cederroth, Fulya Taylan
|Feb 19, 2022
Genomics4RD: An integrated platform to share Canadian deep-phenotype and multiomic data for international rare disease gene discovery.Hannah G Driver, Taila Hartley, E Magda Price
|Feb 18, 2022
The RD-Connect Genome-Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases.Steven Laurie, Davide Piscia, Leslie Matalonga
|Nov 13, 2015
Next-generation diagnostics and disease-gene discovery with the Exomiser.Damian Smedley, Julius O B Jacobsen, Marten Jäger
|Nov 13, 2015
Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency.William P Bone, Nicole L Washington, Orion J Buske
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Frequent Collaborators
2 joint publications
Julius O B Jacobsen
2 joint publications
Manuel Posada de la Paz
2 joint publications
Peter N Robinson
2 joint publications
Steven Laurie
1 joint publications
Elise D Flynn
1 joint publications
Marta Girdea
1 joint publications
Amanda E Links
1 joint publications
Cynthia J Tifft
1 joint publications
Elise Valkanas
1 joint publications
Nicole Vasilevsky
