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

Sango K, McDonald MP, Crawley JN, Mack ML, Tifft CJ, Skop E, Starr CM, Hoffmann A, Sandhoff K, Suzuki K, Proia RL. Mice lacking both subunits of lysosomal ?-hexosaminidase exhibit mucopolysaccharidosis and gangliosidoses. Nat Genet, 14:348-352. 1996. [PubMed]

Tifft CJ, Proia RL. The ?-hexosaminidase deficiency disorders: development of a clinical paradigm in the mouse. Ann Med, 29:557-561. 1997. [PubMed]

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]

Wada R, Tifft CJ, Proia RL. Microglial activation during acute neurodegeneration in Sandhoff disease and suppression by bone marrow transplantation. Proc Natl Acad Sci, 97: 10954-10959. 2000. [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, Howell RR, Kravitz RM, Mackey J, Marsden D, Martins AM, Millington DS, Nicolino M, O'Grady G,  Patterson MC, Rapoport DM, Slonim A, Spencer CT, 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]

Gahl WA and Tifft CJ. The NIH Undiagnosed Diseases Program: Lessons Learned. JAMA, 305: 1904-5. 2011 [PubMed]

Caciotti A, Garman SC, Rivera-Colon Y, Procopio E, Catarzi S, Ferri L, Guido C, Martelli P, Parini R, Antuzzi D, Battini R, Sibilio M, Simonati A, Fontana E, Salviati A, Akinci G, Cereda C, Dionisi-Vici C, Deodate F, d'Amico A, d'Azzo A, Bertini E, Filocamo M, Scarpa M, di Rocco M, Tifft CJ, Ciani F, Gasperini S, Pasquini E, Guerrini R, Donati MA, Morrone A. GM1 Gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings. Ciochim Biophys Acta, 1812:782-90. 2011. [PubMed]

Bley AE, Giannikopoulos OA, Hayden D, Kubilus K, Tifft CJ, Eichler FS. Natural history of infantile GM2 gangliosidosis. Pediatrics, 128:e1233-41. 2011. [PubMed]

Pierson TM, Tart G, Adams D, Toro C, Golas G, Tifft CJ, Gahl WA. Infantile-onset spinal muscular atrophy with respiratory distress-1 diagnosed in a 20-year-old man. Neuromusc Disord, 21:353-5.2011. [PubMed]

Adams DR, Sincan M, Fuentes Fajardo K, Millikin JC, Pierson TM, Toro C, Boerloel CF, Tifft CJ, Gahl WA, Markello TC. Analysis of DNA sequence variants detected by high-throughput sequencing. Hum Mutat, 33(4)599-608. 2011. [PubMed]

Pierson TM, Adams D, Bonn F, Martinelli P, Cherukuri PF, Teer JK, Hansen NF, Cruz P, Mullikin JC, Blakesley RW, Golas G, Kwan J, Sandler A, Fuentes-Fajardo K, Markello T, Blackstone C, Tifft C, Rugarli EI, Langer T, Gahl W, Toro C. Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases. PLoS Genetics, 7(10):e1002325 October 13. 2011. [PubMed]

Gahl WA, Markello TC, Toro C, Fuentes Fajardo K, Sincan M, Gill F, Carlson-Donohoe H, Gropman A, Pierson TM, Golas G, Wolfe L, Groden C, Godfrey R, Nehrebecky M, Wahl C, Yang S, Madeo A, Boerkoel CF, Tifft CJ, Adams D. The NIH Undiagnosed Diseases Program: Insights into rare diseases. Genet Medicine, 33(4):609-13. 2012. [PubMed]

Pierson TM, Adams DA, Markello T, Golas G, Yang S, Sincan M, Simeonov DR, Fuentes-Fajardo K, Hansen NF, Cherukuri PF, Cruz P, Teer, JK, Mullikin JC, Boerkoel CF, Gahl WA and Tifft CJ. Exome sequencing as a diagnostic tool in a case of undiagnosed juvenile-onset GM1 gangliosidosis. Neurology, 79(2):123-6. 2012. [PubMed]

Duan X, Markello T, Adams D, Toro C, Tifft C, Gahl WA, Boerkoel CF. Cultural differences define diagnosis and genomic medicine practice: implications for undiagnosed diseases program in China. Front Med, 7(3):389-94. 2013. [PubMed]

Pierson TM, Markello T, Accardi J, Wolfe L, Adams D, Sincan M, Tarazi NM, Fajardo KF, Cherukuri PF, Bajraktari I, Meilleur KG, Donkervoort S, Jain M, Hu Y, Lehky TJ, Cruz P, Mullikin JC, Bonnemann C, Gahl WA, Boerkoel CF, Tifft CJ. Novel SNP array analysis and exome sequencing detect a homozygous exon 7 deletion of MEGF10 causing early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD).
Neuromuscul Disord, 23(6):483-8. 2012. [PubMed]

Regier DS, Tifft CJ. GLB1-Related Disorders.In: Pagon RA, Adam MP, Bird TD, Dolan CR, Fong CT, Stephens K, editors. GeneReviewstm [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2013.2013 Oct 17. [PubMed]

Top of page

Last Updated: June 10, 2014