Associated Papers
Genetic spectrum analysis of high-carrier-frequency monogenic disorders based on whole-exome sequencing in the Chinese general population.
Hao N et al.
Human Genomics, 2026
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
Deficiencies in germline DNA repair are associated with early-onset gastrointestinal cancers and inform precision prevention strategies.
Yang W et al.
Journal of Translational Medicine, 2025
Crigler-Najjar syndrome type 2 complicating cholecystitis in a patient with UGT1A1 gene double homozygous mutations.
Zhang J et al.
Frontiers of Medicine, 2025
Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.
Wang H et al.
Scientific Reports, 2025
An Unusual Presentation of Gilbert Syndrome.
Chilakala A et al.
Acg Case Reports Journal, 2025
An evaluation of the performance of the PAP-PCR method in detecting UGT1A1 gene polymorphisms.
Kong X et al.
Molecular Biology Reports, 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
Comprehensive analysis of NGS-based expanded carrier screening and follow-up in southern and southwestern China: results from 3024 Chinese individuals.
Huang Q et al.
Human Genomics, 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
Burden of rare genetic disorders in India: twenty-two years' experience of a tertiary centre.
Sheth J et al.
Orphanet Journal of Rare Diseases, 2024
[Carrier screening for 223 monogenic diseases in Chinese population: a multi-center study in 33 104 individuals].
Hou W et al.
Nan Fang Yi Ke Da Xue Xue Bao = Journal of Southern Medical University, 2024
Genetic evaluation in indeterminate acute liver failure: A post hoc analysis.
Wang C et al.
Arab Journal of Gastroenterology : the Official Publication of the Pan-arab Association of Gastroenterology, 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
[UGT1A1 gene mutation spectrum with indirect hyperbilirubinemia in children].
Shen Y et al.
Zhonghua Gan Zang Bing Za Zhi = Zhonghua Ganzangbing Zazhi = Chinese Journal of Hepatology, 2024
Evaluating a Novel Newborn Screening Methodology: Combined Genetic and Biochemical Screenings.
Yu B et al.
Archives of Medical Research, 2024
Type II Crigler-Najjar syndrome: a case report and literature review.
He T et al.
Frontiers in Medicine, 2024
Siblings of neonatal hyperbilirubinemia with UGT1A1 double missense variants.
Kubota Y et al.
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2024
A Case of Adult Hereditary Spherocytosis Concomitant with Gilbert Syndrome Caused by Mutations in SPTB and UGT1A1.
Gou Y et al.
Journal of Inflammation Research, 2024
Dehydrated hereditary stomatocytosis masquerading as primary haemochromatosis: a diagnostic challenge.
Jamwal M et al.
Pathology, 2023
Establishment of UGT1A1-knockout human iPS-derived hepatic organoids for UGT1A1-specific kinetics and toxicity evaluation.
Shintani T et al.
Molecular Therapy. Methods & Clinical Development, 2023
Effects of common genetic variants of human uridine diphosphate glucuronosyltransferase subfamilies on irinotecan glucuronidation.
Tagawa K et al.
Toxicology Mechanisms and Methods, 2023
Postoperative jaundice related to UGT1A1 and ABCB11 gene mutations: A case report and literature review.
Jiang JL et al.
World Journal of Clinical Cases, 2023
[A family study of the compound heterozygous mutation of the UGT1A1 gene causing Crigler-Najjar syndrome type II].
Luo L et al.
Zhonghua Gan Zang Bing Za Zhi = Zhonghua Ganzangbing Zazhi = Chinese Journal of Hepatology, 2023
Genomic profiles of renal cell carcinoma in a small Chinese cohort.
Tai S et al.
Frontiers in Oncology, 2023
Comprehensive genomic profiling reveals prognostic signatures and insights into the molecular landscape of colorectal cancer.
Yang J et al.
Frontiers in Oncology, 2023
Genetic variations underlying Gilbert syndrome and HBV infection outcomes: a cross-sectional study.
Yao B et al.
Frontiers in Genetics, 2023
Multi-omics analysis identifies osteosarcoma subtypes with distinct prognosis indicating stratified treatment.
Jiang Y et al.
Nature Communications, 2022
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
[UGT1A1 gene mutations in Chinese Dong neonates in Sanjiang, Guangxi].
Yao X et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 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
Real-life Progression of the Use of a Genetic Panel in to Diagnose Neonatal Cholestasis.
Ito S et al.
Jpgn Reports, 2022
Gilbert or Crigler-Najjar syndrome? Neonatal severe unconjugated hyperbilirubinemia with P364L UGT1A1 homozygosity.
Cozzi L et al.
Italian Journal of Pediatrics, 2022
Genetic alterations and their therapeutic implications in epithelial ovarian cancer.
Lapke N et al.
Bmc Cancer, 2021
UGT1A1-related Bilirubin Encephalopathy/Kernicterus in Adults.
Bai J et al.
Journal of Clinical and Translational Hepatology, 2021
Genetic aberrations in Chinese pancreatic cancer patients and their association with anatomic location and disease outcomes.
Lu J et al.
Cancer Medicine, 2021
Novel mutations in Uridyl-diphosphate-glucuronosyl-transferase 1A1 (UGT1A1) gene in Tunisian patients with unconjugated hyperbilirubinemia.
Trabelsi N et al.
European Journal of Medical Genetics, 2021
Clinical impact of genomic testing in patients with suspected monogenic kidney disease.
Jayasinghe K et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Integrated Analysis of Genomic and Immunological Features in Lung Adenocarcinoma With Micropapillary Component.
Zhang S et al.
Frontiers in Oncology, 2021
Gilbert syndrome with systemic lupus erythematosus presenting with persistent unconjugated hyperbilirubinemia: A case report.
Ye N et al.
Experimental and Therapeutic Medicine, 2020
Irinotecan toxicity during treatment of metastatic colorectal cancer: focus on pharmacogenomics and personalized medicine.
Paulík A et al.
Tumori, 2020
Monitoring treatment efficacy and resistance in breast cancer patients via circulating tumor DNA genomic profiling.
Chen Z et al.
Molecular Genetics & Genomic Medicine, 2020