Publications

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Author Title [ Year(Asc)]
Filters: Author is Philippakis, Anthony A  [Clear All Filters]
2018
Arachchi, H. et al. matchbox: An open-source tool for patient matching via the Matchmaker Exchange. Hum Mutat 39, 1827-1834 (2018).
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).
Dyke, S. O. M. et al. "Matching" consent to purpose: The example of the Matchmaker Exchange. Hum Mutat 38, 1281-1285 (2017).
2015
Philippakis, A. A. et al. The Matchmaker Exchange: a platform for rare disease gene discovery. Hum Mutat 36, 915-21 (2015).