Karen Snow

Length of uninterrupted CGG repeats determines instability in the FMR1 gene

Evan E. Eichler, Jeanette J. A. Holden, Bradley W. Popovich et al. · Nature Genetics · 1994 · 479 citations

Chromatin, Genome Instability, Fmr1 Gene +13

Identification of 58 novel mutations in Niemann-Pick disease type C: Correlation with biochemical phenotype and importance of<i>PTC1</i>-like domains in<i>NPC1</i>

Walter D. Park, John F. O’Brien, Patrick A. Lundquist et al. · Human Mutation · 2003 · 212 citations

Genetics, Genetic Epidemiology, Pathology +16

Niemann-Pick C Variant Detection by Altered Sphingolipid Trafficking and Correlation with Mutations within a Specific Domain of NPC1

Xiaofeng Sun, David L. Marks, Walter D. Park et al. · The American Journal of Human Genetics · 2001 · 147 citations · Full text

Proteinlipid Interaction, Signal Transduction, Medicine +9

Developments toward a complete micro-total analysis system for Duchenne muscular dystrophy diagnosis

Jerome P. Ferrance, Qirong Wu, Braden C. Giordano et al. · Analytica Chimica Acta · 2003 · 76 citations

Engineering, Medical Imaging, Biomechanics +8

Molecular Diagnostics on Microfabricated Electrophoretic Devices: From Slab Gel- to Capillary- to Microchip-based Assays for T- and B-Cell Lymphoproliferative Disorders

Nicole J. Munro, Karen Snow, Jeffrey A. Kant et al. · Clinical Chemistry · 1999 · 72 citations · Full text