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NIH

Cynthia J. Tifft, M.D., Ph.D.

Deputy Clinical Director, NHGRI
Associate Investigator, Medical Genetics Branch

Selected Publications

Allende ML, Cook EK, Larman BC, Nugent A, Brady JM, Golebiowski D, Sena-Esteves M, Tifft CJ, Proia RL Cerebral organoids derived from Sandhoff disease-induced pluripotent stem cells exhibit impaired neurodifferentiation. J. Lipid Res, 59:550-563. 2018. [PubMed]

Tifft CJ, Adams DR. The National Institutes of Health undiagnosed diseases program. Curr. Opin. Pediatr, 26(6):626-33. 2014. [PubMed]

Regier DS, Proia RL, D'Azzo A, Tifft CJ. The GM1 and GM2 Gangliosidoses: natural history and progress toward therapy. Pediatr Endocrinol Rev, 13 Suppl 1:663-73. 2016. [PubMed]

Regier DS, Kwon JH, Johnston J, Golas G, Yang S, Wiggs E, Latour Y, Thomas S, Portner C, Adams D, Vezina G, Baker EH Tifft CJ. MRI/MRS as a surrogate marker for disease progression in GM1 gangliosidosis. Am. J. Med. Genet A, 170(3):634-44. 2016.  [PubMed]

Trehan A, Brady JM, Maduro V, Bone WP, Huang Y, Golas GA, Kane MS, Lee PR, Thurm A, Gropman AL, Paul SM, Vezina G, Markello TC, Gahl WA, Boerkoel CF, Tifft CJ. MED23-assoicated intellectual disability in a non-consanguineous family. Am J Med Genet A 167(6):1374-80. 2015. [PubMed]

Gahl WA, Tifft CJ. The NIH Undiagnosed Disease Program: lessons learned. JAMA, 305(18):1904-5. 2011. [PubMed]

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Last Updated: September 11, 2018