Cynthia J. Tifft
National Institutes of Health(US)National Human Genome Research Institute(US)Office of the Director(US)Université Bourgogne Franche-Comté(FR)Office of the Director(US)National Institutes of Health Clinical Center(US)
Publications by Year
Research Areas
Lysosomal Storage Disorders Research, Genomics and Rare Diseases, Cellular transport and secretion, Glycosylation and Glycoproteins Research, Genetics and Neurodevelopmental Disorders
Most-Cited Works
- → Lysosomal storage diseases(2018)966 cited
- → Pompe disease diagnosis and management guideline(2006)619 cited
- → Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta(2007)480 cited
- → Microglial activation precedes acute neurodegeneration in Sandhoff disease and is suppressed by bone marrow transplantation(2000)407 cited
- → Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease(2018)362 cited
- → Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR(2004)321 cited