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Boycott, K.M.; Rath, A.; Chong, J.X.; Hartley, T.; Alkuraya, F.S.; Baynam, G.; ... ; Lochmuller, H.
2017
International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases
Article / Letter to editor
open access
Dyke, S.O.M.; Philippakis, A.A.; Argila, J.R. de; Paltoo, D.N.; Luetkemeier, E.S.; Knoppers, B.M.; ... ; Sherry, S.T.
2016
Consent Codes: Upholding Standard Data Use Conditions
Article / Letter to editor
metadata only
Philippakis, A.A.; Azzariti, D.R.; Beltran, S.; Brookes, A.J.; Brownstein, C.A.; Brudno, M.; ... ; Rehm, H.L.
2015
The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery
Article / Letter to editor
metadata only
