Cynthia J. Tifft

Pompe disease diagnosis and management guideline

Priya S. Kishnani, Robert D. Steiner, Deeksha Bali et al. · Genetics in Medicine · 2006 · 612 citations · Full text

Clinical Finding, Medicine, Veterinary Science +4

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

Wayne A. Cabral, Weizhong Chang, Aileen M. Barnes et al. · Nature Genetics · 2007 · 477 citations · Full text

Bone Disease, Developmental Biology, Prolyl 3-Hydroxylase 1 +12

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

Ryuichi Wada, Cynthia J. Tifft, Richard L. Proia · Proceedings of the National Academy of Sciences · 2000 · 398 citations

Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease

Kimberly Splinter, David R. Adams, Carlos A. Bacino et al. · New England Journal of Medicine · 2018 · 359 citations · Full text

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

David Ng, Nalin Thakker, Connie M. Corcoran et al. · Nature Genetics · 2004 · 320 citations · Full text

Mendelian Disorder, Lenz Microphthalmia Syndromes, Distinct Classes +8