Teresa Casals

Mutations in the Cystic Fibrosis Gene in Patients with Congenital Absence of the Vas Deferens

Miguel Chillón, Teresa Casals, Bernard Mercier et al. · New England Journal of Medicine · 1995 · 964 citations · Full text

The origin of the major cystic fibrosis mutation (ΔF508) in European populations

Núria Morral, Jaume Bertranpetit, Xavier Estivill et al. · Nature Genetics · 1994 · 343 citations

Fibrosis, Mendelian Disorder, Genetic Disorder +11

Variation in a Repeat Sequence Determines Whether a Common Variant of the Cystic Fibrosis Transmembrane Conductance Regulator Gene Is Pathogenic or Benign

Joshua D. Groman, Timothy Hefferon, Teresa Casals et al. · The American Journal of Human Genetics · 2004 · 248 citations · Full text

Molecular Diagnostic Techniques, Molecular Physiology, Disease Mechanism +10

Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders – updated European recommendations

Manfred Stuhrmann, Michael A. Morris, Teresa Casals et al. · European Journal of Human Genetics · 2008 · 241 citations · Full text

Genetic Diseases, Medicine, Genetics +8

Heterogeneity for mutations in the CFTR gene and clinical correlations in patients with congenital absence of the vas deferens

Teresa Casals, Lluís Bassas, Susanna Egozcue et al. · Human Reproduction · 2000 · 146 citations · Full text

Genetics, Renal Pathology, Genetic Epidemiology +21