Associated Papers
Expert Consensus on the Diagnosis and Management of Inherited Hyperbilirubinemia (2025).
Zheng S et al.
Journal of Clinical and Translational Hepatology, 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
Pharmacogenomic and Clinical Predictors of Deferasirox Response in Transfusion-Dependent Thalassemia Identified Using Whole-Genome Sequencing.
Yampayon K et al.
Clinical and Translational Science, 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
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
Application of clinical exome sequencing in sperm donor screening in China.
Huang J et al.
Journal of Assisted Reproduction and Genetics, 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
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
Genetic variation features of neonatal hyperbilirubinemia caused by inherited diseases.
You JY et al.
World Journal of Clinical Pediatrics, 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
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
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
Comprehensive genomic profiling and therapeutic implications for Taiwanese patients with treatment-naïve breast cancer.
Chen SH et al.
Cancer Medicine, 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
AutoGVP: a dockerized workflow integrating ClinVar and InterVar germline sequence variant classification.
Kim J et al.
Bioinformatics (oxford, England), 2024
Novel NARS2 variants in a patient with early-onset status epilepticus: case study and literature review.
Yang N et al.
Bmc Pediatrics, 2024
TSC2 nonsense mutation in angiomyolipoma with epithelial cysts: a case report and literature review.
Song H et al.
Frontiers in Oncology, 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
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
The application of whole-exome sequencing in the early diagnosis of rare genetic diseases in children: a study from Southeastern China.
Lai G et al.
Frontiers in Pediatrics, 2024
Case report: Acute liver failure during deferasirox therapy and the potential role of pharmacogenetics.
García-Fariña B et al.
Frontiers in Pharmacology, 2024
DMD mutations in pediatric patients with phenotypes of Duchenne/Becker muscular dystrophy.
Ge L et al.
Open Medicine (warsaw, Poland), 2024
Beyond Single Diagnosis: Exploring Multidiagnostic Realities in Pediatric Patients through Genome Sequencing.
Guo F et al.
Human Mutation, 2024
Do Gene Polymorphisms Play a Role in Newborn Hyperbilirubinemia?
Hakan N et al.
Balkan Journal of Medical Genetics : Bjmg, 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
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
Towards Evidence-Based Implementation of Pharmacogenomics in Southern Africa: Comorbidities and Polypharmacy Profiles across Diseases.
Soko ND et al.
Journal of Personalized Medicine, 2023
At-Risk Genomic Findings for Pediatric-Onset Disorders From Genome Sequencing vs Medically Actionable Gene Panel in Proactive Screening of Newborns and Children.
Balciuniene J et al.
Jama Network Open, 2023