Tifft Publications

National Human Genome Research Institute

National Institutes of Health
U.S. Department of Health and Human Services


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

Deputy Clinical Director, NHGRI
Associate Investigator, Medical Genetics Branch

Selected Publications

Norflus F, Tifft CJ, McDonald MP, Goldstein G, Crawley JN, Hoffman A, Sandhoff K, Suzuki K, Proia RL. Bone marrow transplantation prolongs life span and ameliorates neurologic manifestations in Sandhoff disease mice. J Clin Invest, 101:1881-1888. 1998. [PubMed]

Becker JA, Vlach J, Raben N, Nagaraju K, Adams EM, Hermans MM, Reuser AJJ, Brooks SS, Tifft CJ,... Plotz PH. The African origin of the common mutation in African-American patients with glycogen storage disease type II (GSD II). Am J Hum Genet, 62:991-994. 1998. [PubMed]

Shotelersuk V, Tifft CJ, Vacha S, Peters KF, Biesecker LG. Discordance of oral-facial-digital syndrome type 1 in monozygotic twin girls. Am J Med Genet, 86:269-273. 1999. [PubMed]

Wada R, Tifft CJ, Proia RL. Microglial activation during acute neurodegeneration in Sandhoff disease and suppression by bone marrow transplantation. Proc Natl Acad Sci USA, 97:10954-10959. 2000. [PubMed]

Tifft CJ, Proia RL. Stemming the tide: glycosphingolipid synthesis inhibitors as therapy for storage diseases. Glycobiology, 10:1249-1258. 2000. [PubMed]

Jeyakumar M, Norflus F, Tifft CJ, Bortina-Borja M, Butters RD, Proia RL, Perry VH, Dwek RA, Platt FM. Enhanced survival in Sandhoff disease mice receiving a combination of substrate deprivation therapy and bone marrow transplantation. Blood, 97:327-329. 2001. [PubMed]

Myerowitz R, Lawson D, Mizukami H, Mi J, Tifft CJ, Proia RL. Molecular pathophysiology in Tay-Sachs and Sandhoff diseases as revealed by gene expression profiling. Hum Mol Genet, 11:1343-1350. 2002. [PubMed]

Myerowitz R, Mizukami J, Richardson KL, Finn LS, Tifft CJ, Proia RL. Global gene expression in a type 2 Gaucher disease brain. Mol Genet Metab, 83:288-296. 2004. [PubMed]

Kishnani PS, Steiner RD, Bali D, Berger K, Byrne BJ, Case LE, Crowley JF, Downs S,... Tifft CJ, Watson MS. Pompe disease diagnosis and management guidelines. Genet Med, 8:267-288. 2006. [PubMed]

Ries M, Moore DF, Robinson CJ, Tifft CJ, Rosenbaum KN, Brady RO, Schiffmann R, Krasnewich D. Quantitative dysmorphology assessment in Fabry disease. Genet Med, 8:96-101. 2006. [PubMed]

Gu J, Tifft CJ, Soldin SJ. Simultaneous quantification of GM1 and GM2 gangliosides by isotope dilution tandem mass spectrometry. Clin Biochem, 6:413-417. 2008. [PubMed]

Maegawa GH, van Giersbergen PL, Yang S, Banwell B, Morgan CP, Dingemanse J, Tifft CJ, Clarke JT. Pharmacokinetics, safety and tolerability of miglustat in the treatment of pediatric patients with GM2 gangliosidosis. Mol Genet Metab, 97:284-291. 2009. [PubMed]

Solomon BD, Mohan P, Tifft CJ. Dysmorphic findings in two cases of abeta/hypobetalipoproteinemia. Clin Dysmorphol, 18:90-91. 2009. [PubMed]

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Last Reviewed: August 19, 2013