Cynthia J. Tifft

Research interests

Publications

• De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome

  Nature · 2024 · https://doi.org/10.1038/s41586-024-07773-7

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

  Journal of Clinical Investigation · 2023 · 10.1172/jci173510

• AAV gene therapy for Tay-Sachs disease

  Nature Medicine · 2022 · 10.1038/s41591-021-01664-4

• Distinct interferon signatures and cytokine patterns define additional systemic autoinflammatory diseases

  Journal of Clinical Investigation · 2019 · https://doi.org/10.1172/jci129301

• Lysosomal storage diseases

  Nature Reviews Disease Primers · 2018 · https://doi.org/10.1038/s41572-018-0025-4

• Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease

  New England Journal of Medicine · 2018 · 10.1056/nejmoa1714458

• The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease

  The American Journal of Human Genetics · 2017 · https://doi.org/10.1016/j.ajhg.2017.01.006

• The NIH Undiagnosed Diseases Program and Network: Applications to modern medicine

  Molecular Genetics and Metabolism · 2016 · 10.1016/j.ymgme.2016.01.007

• The GM1 and GM2 Gangliosidoses: Natural History and Progress toward Therapy.

  PubMed · 2016

• GRIN2A mutation and early‐onset epileptic encephalopathy: personalized therapy with memantine

  Annals of Clinical and Translational Neurology · 2014 · 10.1002/acn3.39

• Multilineage somatic activating mutations in HRAS and NRAS cause mosaic cutaneous and skeletal lesions, elevated FGF23 and hypophosphatemia

  Human Molecular Genetics · 2013 · 10.1093/hmg/ddt429

• Detecting false-positive signals in exome sequencing

  Human Mutation · 2012 · 10.1002/humu.22033

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

  Genetics in Medicine · 2012 · 10.1038/gim.0b013e318232a005

• Natural History of Infantile GM2 Gangliosidosis

  PEDIATRICS · 2011 · 10.1542/peds.2011-0078

• Whole-Exome Sequencing Identifies Homozygous AFG3L2 Mutations in a Spastic Ataxia-Neuropathy Syndrome Linked to Mitochondrial m-AAA Proteases

  PLoS Genetics · 2011 · 10.1371/journal.pgen.1002325

• GM1 gangliosidosis and Morquio B disease: An update on genetic alterations and clinical findings

  Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · 2011 · 10.1016/j.bbadis.2011.03.018

• Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta

  Nature Genetics · 2007 · 10.1038/ng1968

• Pompe disease diagnosis and management guideline

  Genetics in Medicine · 2006 · 10.1097/01.gim.0000218152.87434.f3

• Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR

  Nature Genetics · 2004 · https://doi.org/10.1038/ng1321

• Microglial activation precedes acute neurodegeneration in Sandhoff disease and is suppressed by bone marrow transplantation

  Proceedings of the National Academy of Sciences · 2000 · 10.1073/pnas.97.20.10954

• Mice lacking both subunits of lysosomal β–hexosaminidase display gangliosidosis and mucopolysaccharidosis

  Nature Genetics · 1996 · 10.1038/ng1196-348

Current projects

No projects listed.