| Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens M Chillón, T Casals, B Mercier, L Bassas, W Lissens, S Silber, MC Romey, ... New England Journal of Medicine 332 (22), 1475-1480, 1995 | 1146 | 1995 |
| Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice C Castellani, H Cuppens, M Macek Jr, JJ Cassiman, E Kerem, P Durie, ... Journal of cystic fibrosis 7 (3), 179-196, 2008 | 892 | 2008 |
| The origin of the major cystic fibrosis mutation (ΔF508) in European populations N Morral, J Bertranpetit, X Estivill, V Nunes, T Casals, J Gimenez, A Reis, ... Nature genetics 7 (2), 169-175, 1994 | 471 | 1994 |
| Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders–updated European recommendations E Dequeker, M Stuhrmann, MA Morris, T Casals, C Castellani, ... European Journal of Human Genetics 17 (1), 51-65, 2009 | 326 | 2009 |
| Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign JD Groman, TW Hefferon, T Casals, L Bassas, X Estivill, M Des Georges, ... The American Journal of Human Genetics 74 (1), 176-179, 2004 | 297 | 2004 |
| Detection of a cystic fibrosis modifier locus for meconium ileus on human chromosome 19q13 J Zielenski, M Corey, R Rozmahel, D Markiewicz, I Aznarez, T Casals, ... Nature genetics 22 (2), 128-129, 1999 | 280 | 1999 |
| New type of disease causing mutations: the example of the composite exonic regulatory elements of splicing in CFTR exon 12 F Pagani, C Stuani, M Tzetis, E Kanavakis, A Efthymiadou, ... Human molecular genetics 12 (10), 1111-1120, 2003 | 252 | 2003 |
| Heterogeneity for mutations in the CFTR gene and clinical correlations in patients with congenital absence of the vas deferens T Casals, L Bassas, S Egozcue, MD Ramos, J Giménez, A Segura, ... Human Reproduction 15 (7), 1476-1483, 2000 | 177 | 2000 |
| Characterization of a novel 21-kb deletion, CFTRdele2,3(21 kb), in the CFTR gene: a cystic fibrosis mutation of Slavic origin common in Central and East Europe T Dörk, M Macek Jr, F Mekus, B Tümmler, J Tzountzouris, T Casals, ... Human genetics 106, 259-268, 2000 | 172 | 2000 |
| Cystic fibrosis transmembrane regulator (CFTR) ΔF508 mutation and 5T allele in patients with chronic pancreatitis and exocrine pancreatic cancer N Malats, T Casals, M Porta, L Guarner, X Estivill, FX Real Gut 48 (1), 70-74, 2001 | 150 | 2001 |
| A novel donor splice site in intron 11 of the CFTR gene, created by mutation 1811+ 1.6 kbA--> G, produces a new exon: high frequency in Spanish cystic fibrosis chromosomes and … M Chillon, T Dörk, T Casals, J Gimenez, N Fonknechten, K Will, D Ramos, ... American journal of human genetics 56 (3), 623, 1995 | 141 | 1995 |
| Genotype-phenotype correlation for pulmonary function in cystic fibrosis J De Gracia, F Mata, A Alvarez, T Casals, S Gatner, M Vendrell, ... Thorax 60 (7), 558-563, 2005 | 136 | 2005 |
| Extensive analysis of 40 infertile patients with congenital absence of the vas deferens: in 50% of cases only one CFTR allele could be detected T Casals, L Bassas, J Ruiz-Romero, M Chillon, J Gimenez, MD Ramos, ... Human genetics 95, 205-211, 1995 | 135 | 1995 |
| CA/GT microsatellite alleles within the cystic fibrosis transmembrane conductance regulator (CFTR) gene are not generated by unequal crossingover. N Morral, V Nunes, T Casals, X Estivill Genomics 10 (3), 692-698, 1991 | 123 | 1991 |
| Microsatellite haplotypes for cystic fibrosis: mutation frameworks and evolutionary tracers N Morral, V Nunes, T Casals, M Chillón, J Giménez, J Bertranpetit, ... Human molecular genetics 2 (7), 1015-1022, 1993 | 121 | 1993 |
| Spectrum of Mutations in the CFTR Gene in Cystic Fibrosis Patients of Spanish Ancestry MJ Alonso, D Heine‐Suñer, M Calvo, J Rosell, J Giménez, MD Ramos, ... Annals of human genetics 71 (2), 194-201, 2007 | 108 | 2007 |
| Bronchiectasis in adult patients: an expression of heterozygosity for CFTR gene mutations? T Casals, J De‐Gracia, M Gallego, J Dorca, B Rodríguez‐Sanchón, ... Clinical genetics 65 (6), 490-495, 2004 | 107 | 2004 |
| High heterogeneity for cystic fibrosis in Spanish families: 75 mutations account for 90% of chromosomes T Casals, MD Ramos, J Giménez, S Larriba, V Nunes, X Estivill Human genetics 101, 365-370, 1997 | 105 | 1997 |
| Gross genomic rearrangements involving deletions in the CFTR gene: characterization of six new events from a large cohort of hitherto unidentified cystic fibrosis chromosomes … C Férec, T Casals, N Chuzhanova, M Macek, T Bienvenu, A Holubova, ... European journal of human genetics 14 (5), 567-576, 2006 | 104 | 2006 |
| SSCP analysis: a blind sensitivity trial A Jordanova, L Kalaydjieva, A Savov, M Claustres, M Schwarz, X Estivill, ... Human mutation 10 (1), 65-70, 1997 | 100 | 1997 |
