An Information-Rich CGG Repeat Primed PCR That Detects the Full Range of Fragile X Expanded Alleles and Minimizes the Need for Southern Blot Analysis

Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X

Randi J. Hagerman, Maureen A. Leehey, W L Heinrichs et al. · Neurology · 2001 · 972 citations

Life Sciences, Genetics, Molecular Genetics +16

Association of FMR1 repeat size with ovarian dysfunction

Amy K. Sullivan, Michele Marcus, Michael P. Epstein et al. · Human Reproduction · 2004 · 498 citations · Full text

Medicine, Genetics, Molecular Genetics +9

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 · 482 citations

Medicine, Genetics, Molecular Genetics +7

Cryptic and polar variation of the fragile X repeat could result in predisposing normal alleles

Catherine B. Kunst · Cell · 1994 · 361 citations

Life Sciences, Genetics, Molecular Genetics +7

A Rapid Polymerase Chain Reaction-Based Screening Method for Identification of All Expanded Alleles of the Fragile X (FMR1) Gene in Newborn and High-Risk Populations

Flora Tassone, Ruiqin Pan, Khaled M. A. Amiri et al. · Journal of Molecular Diagnostics · 2007 · 352 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14