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Human Mutation|August 22, 2015
The Matchmaker Exchange: a platform for rare disease gene discoveryAnthony A Philippakis, Danielle R Azzariti, Sergi Beltran, et al.Expert Review of Molecular Diagnostics|January 27, 2016
Toward clinical genomics in everyday medicine: perspectives and recommendationsSusan K Delaney, Michael L Hultner, Howard J Jacob, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 21, 2009
The Scientific Foundation for personal genomics: recommendations from a National Institutes of Health-Centers for Disease Control and Prevention multidisciplinary workshopMuin J Khoury, Colleen M McBride, Sheri D Schully, et al.American Journal of Human Genetics|August 25, 2022
A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseasesStephen F Kingsmore, Laurie D Smith, Chris M Kunard, et al.Advances in Experimental Medicine and Biology|December 8, 2017
Improved Diagnosis and Care for Rare Diseases through Implementation of Precision Public Health FrameworkGareth Baynam, Faye Bowman, Karla Lister, et al.Pageof 8