Valérie Biancalana

Direct Diagnosis by DNA Analysis of the Fragile X Syndrome of Mental Retardation

François Rousseau, Dominique Heitz, Valérie Biancalana et al. · New England Journal of Medicine · 1991 · 643 citations

Life Sciences, Genetics, Molecular Genetics +11

Phenotypic Characterization of Individuals with 30–40 CAG Repeats in the Huntington Disease (HD) Gene Reveals HD Cases with 36 Repeats and Apparently Normal Elderly Individuals with 36–39 Repeats

David C. Rubinsztein, Jayne Leggo, Rhian Coles et al. · HAL (Le Centre pour la Communication Scientifique Directe) · 1996 · 468 citations

Life Sciences, Genetics, Molecular Genetics +10

Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy

Anne-Sophie Nicot, Anne Toussaint, Valérie Tosch et al. · Nature Genetics · 2007 · 433 citations

Life Sciences, Genetics, Molecular Genetics +12

Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans

Stephen P. Robertson, Stephen R.F. Twigg, Andrew J. Sutherland‐Smith et al. · Nature Genetics · 2003 · 429 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

Expansion of the Fragile X CGG Repeat in Females with Premutation or Intermediate Alleles

Sarah L. Nolin, W. Ted Brown, Anne Glicksman et al. · The American Journal of Human Genetics · 2003 · 421 citations · Full text

Life Sciences, Genetics, Molecular Genetics +8