Laboratory testing for fragile X, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG)

Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome

Annemieke J.M.H. Verkerk, Maura Pieretti, James S. Sutcliffe et al. · Cell · 1991 · 3.5K citations

Life Sciences, Genetics, Molecular Genetics +12

Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox

Ying‐Hui Fu, Derek P.A. Kuhl, Antonio Pizzuti et al. · Cell · 1991 · 2.1K citations

Life Sciences, Genetics, Molecular Genetics +8

HGVS Recommendations for the Description of Sequence Variants: 2016 Update

Johan T. den Dunnen, Raymond Dalgleish, Donna Maglott et al. · Human Mutation · 2016 · 1.7K citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Fragile X Genotype Characterized by an Unstable Region of DNA

Shuancang Yu, Melanie Pritchard, Eric J. Kremer et al. · Science · 1991 · 799 citations

Life Sciences, Genetics, Molecular Genetics +16

Elevated Levels of FMR1 mRNA in Carrier Males: A New Mechanism of Involvement in the Fragile-X Syndrome

Flora Tassone, Randi J. Hagerman, Annette K. Taylor et al. · The American Journal of Human Genetics · 2000 · 771 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11