A. Holubová

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 et al. · European Journal of Human Genetics · 2006 · 93 citations · Full text

Genetic Disorder, Genetics, Pathology +7

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

Jana Paděrová, Jana Drabova, A. Holubová et al. · European Journal of Medical Genetics · 2018 · 32 citations

Autoimmune Disease, Genetic Disorder, Genetic-and Phenotypic Heterogeneity +13

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

À. Munck, Daria Berger, Kevin W Southern et al. · Journal of Cystic Fibrosis · 2022 · 31 citations · Full text

Early Diagnosis, Neonatology, Newborn Screening +14

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 et al. · European Journal of Pediatrics · 2012 · 30 citations

Early Diagnosis, Neonatal Genomics, Neonatology +9

Natural history of KBG syndrome in a large European cohort

Lorenzo Loberti, Lucia Pia Bruno, Stefania Granata et al. · Human Molecular Genetics · 2022 · 28 citations · Full text