| Splinter, Kimberly; Adams, David R; Bacino, Carlos A et al. (2018) Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease. N Engl J Med 379:2131-2139 |
| Walley, Nicole M; Pena, Loren D M; Hooper, Stephen R et al. (2018) Characteristics of undiagnosed diseases network applicants: implications for referring providers. BMC Health Serv Res 18:652 |
| Splinter, Kimberly; Hull, Sara Chandros; Holm, Ingrid A et al. (2018) Implementing the Single Institutional Review Board Model: Lessons from the Undiagnosed Diseases Network. Clin Transl Sci 11:28-31 |
| Reuter, Chloe M; Brimble, Elise; DeFilippo, Colette et al. (2018) A New Approach to Rare Diseases of Children: The Undiagnosed Diseases Network. J Pediatr 196:291-297.e2 |
| Zou, Fanggeng; McWalter, Kirsty; Schmidt, Lindsay et al. (2017) Expanding the phenotypic spectrum of GABRG2 variants: a recurrent GABRG2 missense variant associated with a severe phenotype. J Neurogenet 31:30-36 |
| Ramoni, Rachel B; Mulvihill, John J; Adams, David R et al. (2017) The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease. Am J Hum Genet 100:185-192 |
| Feiglin, Ariel; Allen, Bryce K; Kohane, Isaac S et al. (2017) Comprehensive Analysis of Tissue-wide Gene Expression and Phenotype Data Reveals Tissues Affected in Rare Genetic Disorders. Cell Syst 5:140-148.e2 |
| Philippakis, Anthony A; Azzariti, Danielle R; Beltran, Sergi et al. (2015) The Matchmaker Exchange: a platform for rare disease gene discovery. Hum Mutat 36:915-21 |
| Gahl, William A; Wise, Anastasia L; Ashley, Euan A (2015) The Undiagnosed Diseases Network of the National Institutes of Health: A National Extension. JAMA 314:1797-8 |
| Brownstein, Catherine A; Holm, Ingrid A; Ramoni, Rachel et al. (2015) Data sharing in the undiagnosed diseases network. Hum Mutat 36:985-8 |
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