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 · 641 citations

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. · SPIRE - Sciences Po Institutional REpository · 1996 · 468 citations

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 · 426 citations · Full text

Developmental Biology, Mendelian Disorder, Genetic Disorder +8

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 · 420 citations

Chromatin, Mendelian Disorder, Genetic Disorder +7

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 · 418 citations · Full text

Allelic Variant, Genetic Disorder, Genetics +6