Tifft, Cynthia J.

Lysosomal storage diseases

Platt, F. M., d’Azzo, A., Davidson, B. L., Neufeld, E. F., & Tifft, C. J. (2018) · Nature Reviews Disease Primers

Lysosomal Storage Disorders ResearchGlycogen Storage Diseases and Myoclonus

Cited by 1,052

Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease

Splinter, K., Adams, D. R., Bacino, C. A., Bellen, H. J., Bernstein, J. A., Cheatle-Jarvela, A. M., Eng, C. M., Esteves, C., Gahl, W. A., Hamid, R., et al. (2018) · New England Journal of Medicine

Genomics and Rare DiseasesMetabolism and Genetic Disorders

Cited by 359

The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases

Gahl, W. A., Markello, T. C., Toro, C., Fajardo, K. F., Sincan, M., Gill, F., Carlson-Donohoe, H., Gropman, A., Pierson, T. M., Golas, G., et al. (2012) · Genetics in Medicine

Genomics and Rare DiseasesMetabolism and Genetic Disorders

Cited by 291

Thrombotic microangiopathy following systemic AAV administration is dependent on anti-capsid antibodies

Salabarria, S. M., Corti, M., Coleman, K. E., Wichman, M. B., Berthy, J. A., D’Souza, P., Tifft, C. J., Herzog, R. W., Elder, M. E., Shoemaker, L. R., et al. (2024) · Journal of Clinical Investigation

Virus-based gene therapy researchComplement system in diseases

Cited by 159

AAV gene therapy for Tay-Sachs disease

Flotte, T. R., Cataltepe, O., Puri, A., Batista, A. R., Moser, R., McKenna-Yasek, D., Douthwright, C., Gernoux, G., Blackwood, M., Mueller, C., et al. (2022) · Nature Medicine

Lysosomal Storage Disorders ResearchVirus-based gene therapy research

Cited by 143

Conventional and Unconventional Therapeutic Strategies for Sialidosis Type I

Mosca, R., van de Vlekkert, D., Campos, Y., Fremuth, L. E., Cadaoas, J., Koppaka, V., Kakkis, E., Tifft, C., Toro, C., Allievi, S., et al. (2020) · Journal of Clinical Medicine

Lysosomal Storage Disorders ResearchGlycogen Storage Diseases and Myoclonus

Cited by 27

Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases

Kobren, S. N., Baldridge, D., Velinder, M., Krier, J. B., LeBlanc, K., Esteves, C., Pusey, B. N., Züchner, S., Blue, E., Lee, H., et al. (2021) · Genetics in Medicine

Genomics and Rare DiseasesGenomics and Phylogenetic Studies

Cited by 27