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
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
French-Speaking Network of Pharmacogenetics (RNPGx) Recommendations for Gene Panel Analysis Through Genotyping or Sequencing in Pharmacogenetics.
Picard N et al.
Fundamental & Clinical Pharmacology, 2026
Hepatic Porphyria Presenting with Persistent Abdominal Pain: A Case Report and Literature Review.
Yu Y et al.
Iranian Journal of Pathology, 2026
Assessment of the clinical significance of a UGT1A1 gene variant in affecting phototherapy response and long-term outcomes in neonatal hyperbilirubinemia.
Fu S et al.
The Journal of Maternal-fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians, 2025
A case of ADH5/ALDH2 deficiency combined with 3q29 microduplication syndrome.
Chenzhuo S et al.
Bmc Pediatrics, 2025
Germline mutations in B-cell non-Hodgkin lymphoma-associated hemophagocytic lymphohistiocytosis (LA-HLH) and patient outcomes.
Zhong X et al.
Seminars in Oncology, 2025
Adult genomic medicine: lessons from a multisite study of 2700 patients.
Bakur K et al.
Genome 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
Opportunities and Challenges of Population Pharmacogenomics.
Zhou Y et al.
Annals of Human Genetics, 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
Functional Characterization and In Silico Prediction Tools Improve the Pathogenicity Prediction of Novel Bile Acid Transporter Variants.
Peng Z et al.
Clinical Genetics, 2025
The C11orf24 Gene as a Useful Biomarker for Predicting Severe Neutropenia in Modified FOLFIRINOX for Pancreatic Cancer.
Kanesada G et al.
Cancer Science, 2025
Application of clinical exome sequencing in sperm donor screening in China.
Huang J et al.
Journal of Assisted Reproduction and Genetics, 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
Gilbert's syndrome: The good, the bad and the ugly.
De Silva AP et al.
World Journal of Hepatology, 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
The impact of genetic variability on Alzheimer's therapies: obstacles for pharmacogenetic progress.
Cacabelos R et al.
Expert Opinion on Drug Metabolism & Toxicology, 2025
Identification of novel variants in hereditary spherocytosis patients by whole-exome sequencing.
Qin L et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2025
Value of Pharmacogenetic Testing Assessed with Real-World Drug Utilization and Genotype Data.
Litonius K et al.
Clinical Pharmacology and Therapeutics, 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
Challenges in the pathological diagnosis of erythropoietic protoporphyria: a case report.
Yang T et al.
Frontiers in Medicine, 2025
Case Report: Recognition and management of SMARCA4-deficient renal cell carcinoma.
Wang W et al.
Frontiers in Oncology, 2025
Impacts of polymorphisms in drug-metabolizing enzyme and transporter genes on irinotecan toxicity and efficacy in Thai colorectal cancer patients.
Akarapredee N et al.
Plos One, 2025
Genetic variation features of neonatal hyperbilirubinemia caused by inherited diseases.
You JY et al.
World Journal of Clinical Pediatrics, 2024
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
Identification of a novel splice variant in SEC23B gene in a patient with concomitant presence of congenital dyserythropoietic anemia II and Gilbert's syndrome.
Jang W et al.
Hematology (amsterdam, Netherlands), 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
DPYD genotype-guided dose personalisation for fluoropyrimidine-based chemotherapy prescribing in solid organ cancer patients in Australia: GeneScreen 5-FU study protocol.
White C et al.
Bmc Cancer, 2024
UGT1A1 and BLVRA allele and genotype variants in neonatal patients with hyperbilirubinemia in southern China.
Liu X et al.
Scientific Reports, 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
Successful rapid improvement of acute respiratory distress syndrome induced by EGFR-mutated non-small cell lung cancer with almonertinib: a case report.
Sun C et al.
Bmc Pulmonary Medicine, 2024
Molecular biology of glucose-6-phosphate dehydrogenase and UDP-glucuronosyltransferase 1A1 in the development of neonatal unconjugated hyperbilirubinemia.
Hung YL et al.
Pediatrics and Neonatology, 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
Rapid detection of the irinotecan-related UGT1A1 & 5-fluorouracil related DPYD polymorphism by asymmetric polymerase chain reaction melting curve analysis.
Lian J et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2024
Study of sex-biased differences in genomic profiles in East Asian hepatocellular carcinoma.
Huang CY et al.
Discover Oncology, 2024
The Evaluation of the Genetic Variation Types of the Uridine Diphosphate Glucuronosyl Transferase 1A1 Gene by Next-Generation Sequencing and Their Effects on Bilirubin Levels in Obese Children.
Aslantas M et al.
Genetic Testing and Molecular Biomarkers, 2024
Genome-Wide Association Study of Atorvastatin Pharmacokinetics: Associations With SLCO1B1, UGT1A3, and LPP.
Mykkänen AJH et al.
Clinical Pharmacology and Therapeutics, 2024
Comprehensive genomic profiling and therapeutic implications for Taiwanese patients with treatment-naïve breast cancer.
Chen SH et al.
Cancer Medicine, 2024
Neonatal jaundice caused by compound mutations of SLC10A1 and a novel UGT1A1 gene.
Wang M et al.
Clinics and Research in Hepatology and Gastroenterology, 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
Next-generation sequencing based newborn screening and comparative analysis with MS/MS.
Shen G et al.
Bmc Pediatrics, 2024
AutoGVP: a dockerized workflow integrating ClinVar and InterVar germline sequence variant classification.
Kim J et al.
Bioinformatics (oxford, England), 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
Association of UGT1A1 gene variants, expression levels, and enzyme concentrations with 2,3,7,8-TCDD exposure in individuals exposed to Agent Orange/Dioxin.
Van Quang H et al.
Scientific Reports, 2024
Novel NARS2 variants in a patient with early-onset status epilepticus: case study and literature review.
Yang N et al.
Bmc Pediatrics, 2024