Associated Papers
Expert Consensus on the Diagnosis and Management of Inherited Hyperbilirubinemia (2025).
Zheng S et al.
Journal of Clinical and Translational Hepatology, 2026
Between Crigler-Najjar Syndrome Type II and Gilbert Syndrome: Expanding the Spectrum of Uridine Diphosphate Glucuronosyltransferase 1A1 (UGT1A1)-Related Hyperbilirubinemia.
Jesus Sá C et al.
Cureus, 2026
Comparative genetic analysis of blood and semen samples in sperm donors from Hunan, China.
Huang C et al.
Annals of Medicine, 2025
Genomic sequencing as a key primary recommendation for neonatal hyperbilirubinemia: a population-based multicenter study.
Huang D et al.
Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2025
Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.
Wang H et al.
Scientific Reports, 2025
An evaluation of the performance of the PAP-PCR method in detecting UGT1A1 gene polymorphisms.
Kong X et al.
Molecular Biology Reports, 2025
The pharmacogenomic landscape in the Chinese: An analytics of pharmacogenetic variants in 206,640 individuals.
Wang LY et al.
Innovation (cambridge (mass.)), 2025
Dolutegravir metabolism: impact of genetic variations on uridine diphosphate glucuronosyltransferase subfamilies.
Tagawa K et al.
Xenobiotica; the Fate of Foreign Compounds in Biological Systems, 2025
Regional patterns of genetic variants in expanded carrier screening: a next-generation sequencing pilot study in Fujian Province, China.
Guo D et al.
Frontiers in Genetics, 2025
Genetic variation features of neonatal hyperbilirubinemia caused by inherited diseases.
You JY et al.
World Journal of Clinical Pediatrics, 2024
Exome sequencing for assessing the risk of 453 monogenic disorders in offspring: A study of 832 Chinese couples.
Ding X et al.
Clinical and Translational Medicine, 2024
Analysis of UGT1A1 genotype-phenotype correlation in Chinese patients with gilbert and crigler-Najjar II syndrome.
Wu L et al.
European Journal of Medical Genetics, 2024
Whole-exome sequencing as the first-tier test for patients in neonatal intensive care unit: a Chinese single-center study.
Zhang R et al.
Bmc Pediatrics, 2024
[Correlation between the mutation spectrum of the UGT1A1 gene and clinical phenotype in patients with inherited hyperunconjugated bilirubinemia].
Xiong QF et al.
Zhonghua Gan Zang Bing Za Zhi = Zhonghua Ganzangbing Zazhi = Chinese Journal of Hepatology, 2024
Targeted exome sequencing strategy (NeoEXOME) for Chinese newborns using a pilot study with 3423 neonates.
Cao Z et al.
Molecular Genetics & Genomic Medicine, 2024
Type II Crigler-Najjar syndrome: a case report and literature review.
He T et al.
Frontiers in Medicine, 2024
Coexistence of hereditary spherocytosis with SPTB P.Trp1150 gene variant and Gilbert syndrome: A case report and literature review.
Chi C et al.
Open Life Sciences, 2024
Carrier burden of over 300 diseases in Han Chinese identified by expanded carrier testing of 300 couples using assisted reproductive technology.
Chen SC et al.
Journal of Assisted Reproduction and Genetics, 2023
A Rare Case of Primary Sjogren's Syndrome Coexisting With Gilbert Syndrome.
Zhang L et al.
Cureus, 2023
Genetic analysis and prenatal diagnosis of short-rib thoracic dysplasia 3 with or without polydactyly caused by compound heterozygous variants of DYNC2H1 gene in four Chinese families.
Fang Y et al.
Frontiers in Genetics, 2023
Case report: A rare case of pyruvate kinase deficiency and Crigler-Najjar syndrome type II with a novel pathogenic variant of PKLR and UGT1A1 mutation.
Wu H et al.
Frontiers in Genetics, 2023
Genetic variations underlying Gilbert syndrome and HBV infection outcomes: a cross-sectional study.
Yao B et al.
Frontiers in Genetics, 2023
Bilirubin metabolism and UDP-glucuronosyltransferase 1A1 variants in Asians: Pathogenic implications and therapeutic response.
Huang MJ et al.
The Kaohsiung Journal of Medical Sciences, 2022
Identification of a novel heterozygous missense TP63 variant in a Chinese pedigree with split-hand/foot malformation.
Miao M et al.
Bmc Medical Genomics, 2022
Genetic testing of UGT1A1 in the diagnosis of Gilbert syndrome: The discovery of seven novel variants in the Chinese population.
Gu L et al.
Molecular Genetics & Genomic Medicine, 2022
Targeted-Capture Next-Generation Sequencing in Diagnosis Approach of Pediatric Cholestasis.
Almes M et al.
Diagnostics (basel, Switzerland), 2022
UGT1A1 genetic variants are associated with increases in bilirubin levels in rheumatoid arthritis patients treated with sarilumab.
Lin N et al.
The Pharmacogenomics Journal, 2022
Gilbert Syndrome and Genetic Findings in Children: A Tertiary-Center Experience from Turkey.
Çağan Appak Y et al.
Turkish Archives of Pediatrics, 2022
Common UGT1A6 Variant Alleles Determine Acetaminophen Pharmacokinetics in Man.
Cerezo-Arias MLO et al.
Journal of Personalized Medicine, 2022
Gilbert or Crigler-Najjar syndrome? Neonatal severe unconjugated hyperbilirubinemia with P364L UGT1A1 homozygosity.
Cozzi L et al.
Italian Journal of Pediatrics, 2022
Diclofenac-induced adverse drug reactions and hyperbilirubinemia caused by a variant gene.
Chen ES et al.
The Kaohsiung Journal of Medical Sciences, 2022
A novel pathogenesis concept of biliary atresia approached by combined molecular strategies.
Laochareonsuk W et al.
Plos One, 2022
UGT1A1 variants in Chinese Uighur and Han newborns and its correlation with neonatal hyperbilirubinemia.
Yang H et al.
Plos One, 2022
Genetic landscape of 125 pharmacogenes in Chinese from the Chinese Millionome Database.
Qi G et al.
Scientific Reports, 2021
UGT1A1 mutation association with increased bilirubin levels and severity of unconjugated hyperbilirubinemia in ABO incompatible newborns of China.
Yang H et al.
Bmc Pediatrics, 2021
Whole-exome sequencing in a patient with synchronous triple primary malignancies involving lung cancer: a case report.
Li D et al.
Precision Clinical Medicine, 2020
Gilbert syndrome with systemic lupus erythematosus presenting with persistent unconjugated hyperbilirubinemia: A case report.
Ye N et al.
Experimental and Therapeutic Medicine, 2020
Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades.
Xiang J et al.
Scientific Reports, 2020
Genomic testing in 1019 individuals from 349 Pakistani families results in high diagnostic yield and clinical utility.
Cheema H et al.
Npj Genomic Medicine, 2020
Effect of UDP-glucuronosyltransferase 1A1 activity on risk for developing Gilbert's syndrome.
Huang MJ et al.
The Kaohsiung Journal of Medical Sciences, 2019
Feeding difficulty is the dominant feature in 12 Chinese newborns with CHD7 pathogenic variants.
Chen X et al.
Bmc Medical Genetics, 2019
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
Profiling of UGT1A1*6, UGT1A1*60, UGT1A1*93, and UGT1A1*28 Polymorphisms in Indonesian Neonates With Hyperbilirubinemia Using Multiplex PCR Sequencing.
Amandito R et al.
Frontiers in Pediatrics, 2019