Associated Papers
Adult genomic medicine: lessons from a multisite study of 2700 patients.
Bakur K et al.
Genome Medicine, 2025
Molecular and computational characterization of ABCB11 and ABCG5 variants in Tunisian patients with neonatal/infantile low-GGT intrahepatic cholestasis: Genetic diagnosis and genotype-phenotype correlation assessment.
Khabou B et al.
Annals of Human Genetics, 2024
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
Heterogeneity in biomarkers, mitogenome and genetic disorders of the Arab population with special emphasis on large-scale whole-exome sequencing.
Borgio JF
Archives of Medical Science : Ams, 2023
Prospect of genetic disorders in Saudi Arabia.
Alqahtani AS et al.
Frontiers in Genetics, 2023
Genotype-Phenotype Association in ABCC2 Exon 18 Missense Mutation Leading to Dubin-Johnson Syndrome: A Case Report.
Kim JH et al.
International Journal of Molecular Sciences, 2022
Clinical characteristics and liver profiles of Dubin-Johnson syndrome in neonates: Multicenter retrospective study.
Hasosah M et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie, 2022
Case Report: Dubin-Johnson Syndrome Presenting With Infantile Cholestasis: An Overlooked Diagnosis in an Extended Family.
Kamal NM et al.
Frontiers in Pediatrics, 2022
Clinical, Biochemical, and Molecular Characterization of Neonatal-Onset Dubin-Johnson Syndrome in a Large Case Series From the Arabs.
Al-Hussaini A et al.
Frontiers in Pediatrics, 2021
What is the right sequencing approach? Solo VS extended family analysis in consanguineous populations.
Alfares A et al.
Bmc Medical Genomics, 2020
A recurrent ABCC2 p.G693R mutation resulting in loss of function of MRP2 and hyperbilirubinemia in Dubin-Johnson syndrome in China.
Wu L et al.
Orphanet Journal of Rare Diseases, 2020
Genetic contribution of ABCC2 to Dubin-Johnson syndrome and inherited cholestatic disorders.
Corpechot C et al.
Liver International : Official Journal of the International Association for the Study of the Liver, 2020
The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.
Monies D et al.
Human Genetics, 2017
Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.
Unknown Author
Genome Biology, 2015
Urinary coproporphyrins as a diagnostic biomarker of Dubin-Johnson syndrome in neonates: A diagnostic pathway is proposed.
Al-Hussaini A et al.
Saudi Journal of Gastroenterology : Official Journal of the Saudi Gastroenterology Association, 0