Associated Papers
Expert Consensus on the Diagnosis and Management of Inherited Hyperbilirubinemia (2025).
Zheng S et al.
Journal of Clinical and Translational Hepatology, 2026
Clinical Implementation of Pharmacogenomics and Drug-Drug Interaction Screening in a German Academic Teaching Hospital and Outpatient Follow-Up.
Tremmel R et al.
Clinical Pharmacology and Therapeutics, 2026
Comparative genetic analysis of blood and semen samples in sperm donors from Hunan, China.
Huang C et al.
Annals of 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
Clinical Pharmacogenetics: Results After Implementation of Preemptive Tests in Daily Routine.
Díaz-Villamarín X et al.
Journal of Personalized Medicine, 2025
An evaluation of the performance of the PAP-PCR method in detecting UGT1A1 gene polymorphisms.
Kong X et al.
Molecular Biology Reports, 2025
A Case Report of Gilbert Syndrome Presenting With Acute Cholecystitis.
Yang SQ et al.
Clinical Case 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
Decoding the molecular landscape: HER2 and PD-L1 in advanced gastric cancer.
Yao J et al.
Frontiers in Immunology, 2025
Clinical Benefits and Utility of Pretherapeutic DPYD and UGT1A1 Testing in Gastrointestinal Cancer: A Secondary Analysis of the PREPARE Randomized Clinical Trial.
Roncato R et al.
Jama Network Open, 2024
Allele frequency of genetic variations related to the UGT1A1 gene-drug pair in a group of Iranian population.
Sarhangi N et al.
Journal of Diabetes and Metabolic Disorders, 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
APF2: an improved ensemble method for pharmacogenomic variant effect prediction.
Zhou Y et al.
The Pharmacogenomics Journal, 2024
Waardenburg syndrome type 2 with a de novo variant of the SOX10 gene: a case report.
Li Y et al.
Bmc Medical Genomics, 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
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
Effects of common genetic variants of human uridine diphosphate glucuronosyltransferase subfamilies on irinotecan glucuronidation.
Tagawa K et al.
Toxicology Mechanisms and Methods, 2023
PAnno: A pharmacogenomics annotation tool for clinical genomic testing.
Liu Y et al.
Frontiers in Pharmacology, 2023
Genetic variations underlying Gilbert syndrome and HBV infection outcomes: a cross-sectional study.
Yao B et al.
Frontiers in Genetics, 2023
Association of Inherited Genetic Factors With Drug-Induced Hepatic Damage Among Children With Acute Lymphoblastic Leukemia.
Yang W et al.
Jama Network Open, 2022
The UGT1A9*22 genotype identifies a high-risk group for irinotecan toxicity among gastric cancer patients.
Lee CK et al.
Genomics & Informatics, 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
A pilot study of assessing whole genome sequencing in newborn screening in unselected children in China.
Jian M et al.
Clinical and Translational Medicine, 2022
Predicting drug response and toxicity in metastatic colorectal cancer: the role of germline markers.
Bignucolo A et al.
Expert Review of Clinical Pharmacology, 2022
Real-life Progression of the Use of a Genetic Panel in to Diagnose Neonatal Cholestasis.
Ito S et al.
Jpgn Reports, 2022
Common UGT1A6 Variant Alleles Determine Acetaminophen Pharmacokinetics in Man.
Cerezo-Arias MLO et al.
Journal of Personalized Medicine, 2022
Clinical pharmacogenetic analysis in 5,001 individuals with diagnostic Exome Sequencing data.
Lanillos J et al.
Npj Genomic Medicine, 2022
Genetic Analysis of UGT1A1 Polymorphisms Using Preserved Dried Umbilical Cord for Assessing the Potential of Neonatal Jaundice as a Risk Factor for Autism Spectrum Disorder in Children.
Horinouchi T et al.
Journal of Autism and Developmental Disorders, 2022
Association of gallstone and polymorphisms of UGT1A1*27 and UGT1A1*28 in patients with hepatitis B virus-related liver failure.
Zhuo H et al.
Open Medicine (warsaw, Poland), 2022
Comprehensive analysis of important pharmacogenes in Koreans using the DMET™ platform.
Kim B et al.
Translational and Clinical Pharmacology, 2021
The importance of the UGT1A1 variants in the development of osteopenia and osteoporosis in postmenopausal women.
Bogacz A et al.
Scientific Reports, 2021
A next-generation sequencing-based strategy combining microsatellite instability and tumor mutation burden for comprehensive molecular diagnosis of advanced colorectal cancer.
Xiao J et al.
Bmc Cancer, 2021
Identification of Novel UGT1A1 Variants Including UGT1A1 454C>A through the Genotyping of Healthy Participants of the HPTN 077 Study.
Seneviratne HK et al.
Acs Pharmacology & Translational Science, 2021
Development and Analytical Validation of a 29 Gene Clinical Pharmacogenetic Genotyping Panel: Multi-Ethnic Allele and Copy Number Variant Detection.
Scott SA et al.
Clinical and Translational Science, 2021
Investigation of PALB2 Mutation and Correlation With Immunotherapy Biomarker in Chinese Non-Small Cell Lung Cancer Patients.
Zhang J et al.
Frontiers in Oncology, 2021
Genetic Factors and Delayed TSB Monitoring and Treatment as Risk Factors Associated with Severe Hyperbilirubinemia in Term Neonates Admitted for Phototherapy.
Boo NY et al.
Journal of Tropical Pediatrics, 2020
The relationship between hyperbilirubinemia and the promoter region and first exon of UGT1A1 gene polymorphisms in Vietnamese newborns.
Nguyen TT et al.
Pediatric Research, 2020
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
Added Value of Clinical Sequencing: WGS-Based Profiling of Pharmacogenes.
Caspar SM et al.
International Journal of Molecular Sciences, 2020