Associated Papers
Profile of cystic fibrosis transmembrane conductance regulator (CFTR) gene variants across India and their variability in different geographic regions.
Chowdhury MR et al.
Gene, 2026
Beyond Carrier Status: CFTR Heterozygosity as an Overlooked Clinical Risk Factor for Pancreatitis.
Richter LD et al.
Clinical Genetics, 2025
From past to progress: a retrospective study on CFTR genetic testing in South Africa.
Walters S et al.
Journal of Community Genetics, 2025
Role of the ADAM33 rs2280091 Variant in Modulating Lung Function in Cystic Fibrosis.
Dos Santos VS et al.
International Journal of Molecular Sciences, 2025
Base editing and nanoparticle transfection of airway cell types essential for treatment of cystic fibrosis.
Kavanagh EW et al.
Biorxiv : the Preprint Server for Biology, 2025
Elexacaftor-tezacaftor-ivacaftor in people with cystic fibrosis harbouring two CFTR Class I variants: real-world data from the French compassionate programme.
Burgel PR et al.
Eclinicalmedicine, 2025
CFTR Variant Frequencies and Newborn Screening Panel Performance in the Diverse CF Population Receiving Care in the State of Georgia.
Barr E et al.
International Journal of Neonatal Screening, 2025
Identification and Characterization of a Rare Exon 22 Duplication in CFTR in Two Families.
Ahting S et al.
International Journal of Molecular Sciences, 2025
Functional variants in the cystic fibrosis transmembrane conductance regulator (CFTR) gene are associated with increased risk of colorectal cancer.
Prizment A et al.
Human Molecular Genetics, 2025
Arab founder variants: Contributions to clinical genomics and precision medicine.
AlAbdi L et al.
Med (new York, N.y.), 2025
Genetic Variants and Clinical Characteristics in the Diagnosis of Children Aged Under 18 Years With Cystic Fibrosis in a Brazilian State.
Arpini LDSB et al.
Pediatric Pulmonology, 2025
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
Elexacaftor/Tezacaftor/Ivacaftor Effect on a Patient With Rare Compound Heterozygous CFTR Splice Variant Genotype C.[1393-1G>A;2988+1G>A].
Moustaki M et al.
Pediatric Pulmonology, 2025
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
Beyond the 10%: Unraveling the genetic diversity in Turkish cystic fibrosis patients not eligible for CFTR modulators.
Yıldız CA et al.
Pediatric Pulmonology, 2024
Exploring Turkey's mosaic of novel variants and complex alleles in cystic fibrosis genetics.
Yıldız CA et al.
Pediatric Pulmonology, 2024
Investigation of CFTR Function in Human Nasal Epithelial Cells Informs Personalized Medicine.
Pion A et al.
American Journal of Respiratory Cell and Molecular Biology, 2024
Diagnosis of cystic fibrosis: a high heterogeneity of symptoms and genotypes in a Brazil population.
Meneses DG et al.
Bmc Pediatrics, 2024
Exploring the diversity of CFTR gene mutations in cystic fibrosis individuals of South Asia.
Rafique H et al.
The Journal of Asthma : Official Journal of the Association for the Care of Asthma, 2024
Distribution of pathogenic variants in the CFTR gene in a representative cohort of people with cystic fibrosis in the Kingdom of Bahrain.
Majed OAK et al.
Molecular Genetics and Genomics : Mgg, 2024
Diversity of CFTR variants across ancestries characterized using 454,727 UK biobank whole exome sequences.
Ideozu JE et al.
Genome Medicine, 2024
A novel high-resolution melting analysis strategy for detecting cystic fibrosis-causing variants.
Díez Rodríguez GR et al.
Laboratory Medicine, 2024
Study of the genetic and molecular epidemiology of cystic fibrosis based on the patient registry for planning targeted therapy in Russian Federation.
Kondratyeva E et al.
Frontiers in Genetics, 2024
Identification of cystic fibrosis transmembrane conductance regulator gene (CFTR) variants: A retrospective study on the western and southern regions of Saudi Arabia.
Almaghamsi T et al.
Saudi Medical Journal, 2023
Protospacer modification improves base editing of a canonical splice site variant and recovery of CFTR function in human airway epithelial cells.
Joynt AT et al.
Molecular Therapy. Nucleic Acids, 2023
Updated recommendations for CFTR carrier screening: A position statement of the American College of Medical Genetics and Genomics (ACMG).
Deignan JL et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2023
A comprehensive review of cystic fibrosis in Africa and Asia.
Abubakar Bobbo K et al.
Saudi Journal of Biological Sciences, 2023
Noninvasive prenatal screening for cystic fibrosis using circulating trophoblasts: Detection of the 50 most common disease-causing variants.
Jeppesen LD et al.
Prenatal Diagnosis, 2023
Post-approval studies with the CFTR modulators Elexacaftor-Tezacaftor-Ivacaftor.
Tümmler B
Frontiers in Pharmacology, 2023
Screening by high-throughput sequencing for pathogenic variants in cystic fibrosis: Benefit of introducing personalized therapies.
de Melo ACV et al.
Journal of Cellular and Molecular Medicine, 2022
Molecular targets for cystic fibrosis and therapeutic potential of monoclonal antibodies.
Moni SS et al.
Saudi Pharmaceutical Journal : Spj : the Official Publication of the Saudi Pharmaceutical Society, 2022
CFTR gene variants, air pollution, and childhood asthma in a California Medicaid population.
Thilakaratne R et al.
Pediatric Pulmonology, 2022
Prevalence and Characteristics of Cystic Fibrosis in Omani Children: A Multi-center Cross-sectional Study.
Al Oraimi S et al.
Oman Medical Journal, 2022
Personalized Selection of a CFTR Modulator for a Patient with a Complex Allele [L467F;F508del].
Kondratyeva E et al.
Current Issues in Molecular Biology, 2022
C FTR variants are associated with chronic bronchitis in smokers.
Saferali A et al.
The European Respiratory Journal, 2022
Forskolin-induced organoid swelling is associated with long-term cystic fibrosis disease progression.
Muilwijk D et al.
The European Respiratory Journal, 2022
Splicing mutations in the CFTR gene as therapeutic targets.
Deletang K et al.
Gene Therapy, 2022
Population pharmacogenomics: an update on ethnogeographic differences and opportunities for precision public health.
Zhou Y et al.
Human Genetics, 2022
Liver disease in cystic fibrosis patients in a tertiary care center in Saudi Arabia.
Banjar H et al.
International Journal of Pediatrics & Adolescent Medicine, 2022
Systematic estimation of cystic fibrosis prevalence in Chinese and genetic spectrum comparison to Caucasians.
Ni Q et al.
Orphanet Journal of Rare Diseases, 2022
The first report on CFTR mutations of meconium ileus in cystic fibrosis population in Saudi Arabia: A single center review.
Banjar H et al.
International Journal of Pediatrics & Adolescent Medicine, 2022
Insights into National Laboratory Newborn Screening and Future Prospects.
Mujamammi AH
Medicina (kaunas, Lithuania), 2022
The QChip1 knowledgebase and microarray for precision medicine in Qatar.
Rodriguez-Flores JL et al.
Npj Genomic Medicine, 2022