Associated Papers
Rate of germline pathogenic sequence variants in cancer susceptibility genes in an Israeli pediatric and adolescent cancer cohort: a single institute experience.
Nahom D et al.
Familial Cancer, 2025
Rectal organoid morphology analysis (ROMA) as a novel physiological assay for diagnostic classification in cystic fibrosis.
Cuyx S et al.
Thorax, 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
Benchmarking AlphaMissense Pathogenicity Predictions Against Cystic Fibrosis Variants.
McDonald EF et al.
Biorxiv : the Preprint Server for Biology, 2024
Benchmarking AlphaMissense pathogenicity predictions against cystic fibrosis variants.
McDonald EF et al.
Plos One, 2024
Uncommon Presentation of Cystic Fibrosis: A Case Report and Literature Review.
Abu Sirhan M et al.
Cureus, 2023
A comprehensive review of cystic fibrosis in Africa and Asia.
Abubakar Bobbo K et al.
Saudi Journal of Biological Sciences, 2023
Rescue of Rare CFTR Trafficking Mutants Highlights a Structural Location-Dependent Pattern for Correction.
Zacarias S et al.
International Journal of Molecular Sciences, 2023
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
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
Geographic distribution of cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in Saudi Arabia.
Banjar H et al.
International Journal of Pediatrics & Adolescent Medicine, 2021
Serum-Based Proteomics Profiling in Adult Patients with Cystic Fibrosis.
Benabdelkamel H et al.
International Journal of Molecular Sciences, 2020
Spectrum of mutations of cystic fibrosis in the 22 Arab countries: A systematic review.
Al-Sadeq D et al.
Respirology (carlton, Vic.), 2019
Validation of Ion TorrentTM Inherited Disease Panel with the PGMTM Sequencing Platform for Rapid and Comprehensive Mutation Detection.
Mustafa AE et al.
Genes, 2018
Early-Onset Acute Recurrent and Chronic Pancreatitis Is Associated with PRSS1 or CTRC Gene Mutations.
Giefer MJ et al.
The Journal of Pediatrics, 2017
Nationwide genetic analysis for molecularly unresolved cystic fibrosis patients in a multiethnic society: implications for preconception carrier screening.
Behar DM et al.
Molecular Genetics & Genomic Medicine, 2017
Validation of a semiconductor next-generation sequencing assay for the clinical genetic screening of CFTR.
Trujillano D et al.
Molecular Genetics & Genomic Medicine, 2015
Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.
Unknown Author
Genome Biology, 2015
Frequency of common CFTR gene mutations in Venezuelan patients with cystic fibrosis.
Sánchez K et al.
Investigacion Clinica, 2014
Arab gene geography: From population diversities to personalized medical genomics.
Tadmouri GO et al.
Global Cardiology Science & Practice, 2014
Map of autosomal recessive genetic disorders in Saudi Arabia: concepts and future directions.
Al-Owain M et al.
American Journal of Medical Genetics. Part A, 2012
Mutational spectrum of cystic fibrosis in the Lebanese population.
Farra C et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2010
Cystic fibrosis: a new mutation in the Lebanese population.
Farra C et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2008
Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice.
Castellani C et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2008
Cystic Fibrosis testing among Arab-Americans.
Wei S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2006
DNA diagnosis of single gene disorders in patients of non-European origin: experience from Kuwait.
Samilchuk E
Community Genetics, 2005
[Frequency of delta F508 mutation in Venezuelan patients with cystic fibrosis].
Morales-Machin A et al.
Investigacion Clinica, 2004
Cystic fibrosis: presentation with other diseases, the experience in Saudi Arabia.
Banjar HH
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2003
Cystic fibrosis: a worldwide analysis of CFTR mutations--correlation with incidence data and application to screening.
Bobadilla JL et al.
Human Mutation, 2002
Heterogeneity of the cystic fibrosis phenotype in a large kindred family in Qatar with cystic fibrosis mutation (I1234V).
Abdul Wahab A et al.
Journal of Tropical Pediatrics, 2001
Identification of novel mutations in Arabs with cystic fibrosis and their impact on the cystic fibrosis transmembrane regulator mutation detection rate in Arab populations.
Kambouris M et al.
European Journal of Pediatrics, 2000
Geographic distribution of cystic fibrosis transmembrane regulator gene mutations in Saudi Arabia.
Banjar H
Eastern Mediterranean Health Journal = La Revue De Sante De La Mediterranee Orientale = Al-majallah Al-sihhiyah Li-sharq Al-mutawassit, 1999
Geographic distribution of cystic fibrosis transmembrane regulator gene mutations in Saudi Arabia.
Banjar H et al.
Annals of Tropical Paediatrics, 1999
A novel cystic fibrosis gene mutation c.2490insT in a Palestinian patient: A case report and review of the literature.
Chami H et al.
Annals of Thoracic Medicine, 0
Genotype patterns for mutations of the cystic fibrosis transmembrane conductance regulator gene: a retrospective descriptive study from Saudi Arabia.
Banjar HH et al.
Annals of Saudi Medicine, 0