Donna M. Krasnewich

Familial dementia caused by polymerization of mutant neuroserpin

Richard L. Davis, Antony E. Shrimpton, P D Holohan et al. · Nature · 1999 · 351 citations

Life Sciences, Genetics, Neurology +13

Mutations in the Lysosomal Enzyme–Targeting Pathway and Persistent Stuttering

Changsoo Kang, Sheikh Riazuddin, Jennifer Mundorff et al. · New England Journal of Medicine · 2010 · 267 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

Mutation in the key enzyme of sialic acid biosynthesis causes severe glomerular proteinuria and is rescued by N-acetylmannosamine

Belinda Galeano, Riko Klootwijk, Irini Manoli et al. · Journal of Clinical Investigation · 2007 · 201 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Gaucher Disease and Parkinsonism: A Phenotypic and Genotypic Characterization

Nahid Tayebi, Megan Callahan, Victor Madike et al. · Molecular Genetics and Metabolism · 2001 · 200 citations

Life Sciences, Genetics, Neurology +14

The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease

Rachel Ramoni, John J. Mulvihill, David R. Adams et al. · The American Journal of Human Genetics · 2017 · 188 citations · Full text

Public Health, Biomedical Informatics, Health Informatics +13