Associated Papers
Diagnostic Yield of Whole Exome Sequencing in Adult-onset Cholestatic Liver Disease.
Scaravaglio M et al.
Clinical Gastroenterology and Hepatology : the Official Clinical Practice Journal of the American Gastroenterological Association, 2025
Arab founder variants: Contributions to clinical genomics and precision medicine.
AlAbdi L et al.
Med (new York, N.y.), 2025
Identification of novel ABCB4 variants and genotype-phenotype correlation in progressive familial intrahepatic cholestasis type 3.
Wang S et al.
Scientific Reports, 2024
Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W et al.
Genome Medicine, 2024
Progressive familial intrahepatic cholestasis 3 Camouflaging as Wilson disease in a 12-year-old: a diagnostic Odyssey.
Panda K et al.
Gastroenterology and Hepatology From Bed to Bench, 2024
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
The clinical utility of rapid exome sequencing in a consanguineous population.
Monies D et al.
Genome Medicine, 2023
Mutation Analysis and Disease Features at Presentation in a Multi-Center Cohort of Children With Monogenic Cholestasis.
Hertel PM et al.
Journal of Pediatric Gastroenterology and Nutrition, 2021
ABCB4 disease mimicking morbus Wilson: A potential diagnostic pitfall.
Sticova E et al.
Biomedical Papers of the Medical Faculty of the University Palacky, Olomouc, Czechoslovakia, 2020
Comparison of in silico prediction and experimental assessment of ABCB4 variants identified in patients with biliary diseases.
Khabou B et al.
The International Journal of Biochemistry & Cell Biology, 2017
The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.
Monies D et al.
Human Genetics, 2017
Genetic profiling of children with advanced cholestatic liver disease.
Shagrani M et al.
Clinical Genetics, 2017
ABCB4 Disease Presenting with Cirrhosis and Copper Overload-Potential Confusion with Wilson Disease.
Shneider BL
Journal of Clinical and Experimental Hepatology, 2011