Publications

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Author Title [ Year(Desc)]
Filters: Author is Robinson, Peter N  [Clear All Filters]
2015
Philippakis, A. A. et al. The Matchmaker Exchange: a platform for rare disease gene discovery. Hum Mutat 36, 915-21 (2015).
2017
Boycott, K. M. et al. International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases. Am J Hum Genet 100, 695-705 (2017).
2018
Vasilevsky, N. A. et al. Plain-language medical vocabulary for precision diagnosis. Nat Genet 50, 474-476 (2018).
2019
Nellaker, C. et al. Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva Initiative. Front Genet 10, 611 (2019).