Karen Snow

High functioning fragile X males: Demonstration of an unmethylated fully expanded FMR‐1 mutation associated with protein expression

Randi J. Hagerman, Claire Hull, John F. Safanda et al. · American Journal of Medical Genetics · 1994 · 223 citations

Genetic Testing, Genetics, Molecular Biology +18

Sequence analysis of the fragile X trinucleotide repeat: implications for the origin of the fragile X mutation

Karen Snow, David J. Tester, Kent E. Kruckeberg et al. · Human Molecular Genetics · 1994 · 156 citations

Genetics, Molecular Biology, Molecular Genetics +21

Spinocerebellar ataxia type 2 (SCA 2) in an infant with extreme CAG repeat expansion

Dusica Babovic‐Vuksanovic, Karen Snow, Marc C. Patterson et al. · American Journal of Medical Genetics · 1998 · 101 citations

Childhood‐onset ataxia: Testing for large CAG‐repeats in SCA2 and SCA7

Rong Mao, Arthur S. Aylsworth, Nicholas Potter et al. · American Journal of Medical Genetics · 2002 · 86 citations

Neurodegenerative Diseases, Such Large Expansions, Medicine +14

Mannose-binding lectin (MBL) deficiency. Variant alleles in a Midwestern population of the United States

Dusica Babovic‐Vuksanovic, Karen Snow, Rosa Ten · Annals of Allergy Asthma & Immunology · 1999 · 49 citations

Variant Alleles, Allelic Variant, Genetic Disorder +9