Gross genomic rearrangements involving deletions in the CFTR gene: characterization of six new events from a large cohort of hitherto unidentified cystic fibrosis chromosomes and meta-analysis of the underlying mechanisms

Claude Férec, Teresa Casals, Nadia Chuzhanova, +21

European Journal of Human Genetics

Genetic DisorderGeneticsPathologyCftr GeneDisease Gene Identification +5

Under the mask of Kabuki syndrome: Elucidation of genetic-and phenotypic heterogeneity in patients with Kabuki-like phenotype

Jana Paděrová, Jana Drabova, A. Holubová, +12

European Journal of Medical Genetics

Autoimmune DiseaseGenetic DisorderGenetic-and Phenotypic HeterogeneityGeneticsInherited Metabolic Disease +11

European survey of newborn bloodspot screening for CF: opportunity to address challenges and improve performance

À. Munck, Daria Berger, Kevin W Southern, +79

Journal of Cystic Fibrosis

Early DiagnosisNeonatologyNewborn ScreeningMedicineHematology +12

Prospective and parallel assessments of cystic fibrosis newborn screening protocols in the Czech Republic: IRT/DNA/IRT versus IRT/PAP and IRT/PAP/DNA

Veronika Krulišová, M. Balaščaková, Veronika Skalická, +12

European Journal of Pediatrics

Early DiagnosisNeonatal GenomicsNeonatologyNewborn ScreeningDiagnosis +7

Natural history of KBG syndrome in a large European cohort

Lorenzo Loberti, Lucia Pia Bruno, Stefania Granata, +56

Human Molecular Genetics

Epidemiology of rare diseases detected by newborn screening in the Czech Republic

Jan David, Petr Chrastina, Karolína Pešková, +13

Central European Journal of Public Health

Distribution of CFTR mutations in the Czech population: Positive impact of integrated clinical and laboratory expertise, detection of novel/de novo alleles and relevance for related/derived populations

Petra Křenková, T. Piskáčková, A. Holubová, +18

Journal of Cystic Fibrosis

Allelic VariantMendelian DisorderGenetic DisorderMedicineGenetics +7

Molecular genetic analysis in 14 Czech Kabuki syndrome patients is confirming the utility of phenotypic scoring

Jana Paděrová, A. Holubová, Martina Simandlová, +13

Clinical Genetics

Array CghGeneticsGenetic EpidemiologyImmunologyPathology +19

Highly preferential association of NonF508del CF mutations with the M470 allele

Bianca Maria Ciminelli, A. Bonizzato, Cristina Bombieri, +10

Journal of Cystic Fibrosis

Highly Preferential AssociationAllelic VariantSomatic VariantMendelian DisorderGenetic Disorder +8

Organoids as a personalized medicine tool for ultra-rare mutations in cystic fibrosis: The case of S955P and 1717-2A>G

Iris A. L. Silva, Tereza Doušová, Sofia S. Ramalho, +11

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

FibrosisGenetic DisorderMedicineGeneticsUltra-rare Mutations +7