Associated Papers
Structural pharmacogenomics of drug-associated SNPs in oral squamous cell carcinoma.
Sunil P et al.
Frontiers in Genetics, 2026
Molecular Determinants of the Human Retinal Pigment Epithelium Cell Fate and Potential Pharmacogenomic Targets for Precision Medicine.
Zibetti C
International Journal of Molecular Sciences, 2025
Multicenter In-House Evaluation of an Amplicon-Based Next-Generation Sequencing Panel for Comprehensive Molecular Profiling.
Jantus-Lewintre E et al.
Molecular Diagnosis & Therapy, 2025
Epidermal second-hit mutation in MVK gene associated with linear porokeratosis.
Zhao A et al.
Genes & Diseases, 2025
Tumor DNA from tumor in situ fluid was used to track evolution of glioma under first-line treatment.
Yu J et al.
Frontiers in Oncology, 2025
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
Low-Penetrance Susceptibility Variants in Colorectal Cancer-Current Outlook in the Field.
Szuman M et al.
International Journal of Molecular Sciences, 2024
Novel NARS2 variants in a patient with early-onset status epilepticus: case study and literature review.
Yang N et al.
Bmc Pediatrics, 2024
Screening for Mutations in Hereditary Cancer Susceptibility Genes in a Region with High Endogamy in Brazil.
Oliveira P et al.
Global Medical Genetics, 2023
SNP Array Screening and Long Range PCR-Based Targeted Next Generation Sequencing for Autosomal Recessive Disease with Consanguinity: Insight from a Case of Xeroderma Pigmentosum Group C.
Nomura F et al.
Genes, 2023
A Significant Increasing Risk Association between Cigarette Smoking and XPA and XPC Genes Polymorphisms.
Almushawwah S et al.
Genes, 2023
Genetic susceptibility of bladder cancer in the Lebanese population.
Kourie HR et al.
Bmc Medical Genomics, 2022
Genomic characterization of lymphomas in patients with inborn errors of immunity.
Ye X et al.
Blood Advances, 2022
Cancer genomic profiling identified dihydropyrimidine dehydrogenase deficiency in bladder cancer promotes sensitivity to gemcitabine.
Tsukahara S et al.
Scientific Reports, 2022
Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review.
Chen W et al.
Frontiers in Neurology, 2022
Comprehensive Genomic and Transcriptomic Analysis of Three Synchronous Primary Tumours and a Recurrence from a Head and Neck Cancer Patient.
Bresadola L et al.
International Journal of Molecular Sciences, 2021
Targeted transcriptome analysis using synthetic long read sequencing uncovers isoform reprograming in the progression of colon cancer.
Liu S et al.
Communications Biology, 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
XPC as breast cancer susceptibility gene: evidence from genetic profiling, statistical inferences and protein structural analysis.
Malik SS et al.
Breast Cancer (tokyo, Japan), 2020
Effects of Xeroderma pigmentosum group C polymorphism on the likelihood of prostate cancer.
Yan Y et al.
Journal of Clinical Laboratory Analysis, 2020
A deep analysis using panel-based next-generation sequencing in an Ecuadorian pediatric patient with anaplastic astrocytoma: a case report.
García-Cárdenas JM et al.
Journal of Medical Case Reports, 2020
Mutational landscape and genetic signatures of cell-free DNA in tumour-induced osteomalacia.
Wu N et al.
Journal of Cellular and Molecular Medicine, 2020
Somatic mutations in the DNA repairome in prostate cancers in African Americans and Caucasians.
Yadav S et al.
Oncogene, 2020
Cumulative Evidence for Associations between Genetic Variants and Risk of Esophageal Cancer.
Li G et al.
Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2020
The Identification of Admixture Patterns Could Refine Pharmacogenetic Counseling: Analysis of a Population-Based Sample in Mexico.
Martínez-Magaña JJ et al.
Frontiers in Pharmacology, 2020
Workflow for the Implementation of Precision Genomics in Healthcare.
Mehandziska S et al.
Frontiers in Genetics, 2020
Whole-Exome Sequencing Uncovers Novel Causative Variants and Additional Findings in Three Patients Affected by Glycogen Storage Disease Type VI and Fanconi-Bickel Syndrome.
Eghbali M et al.
Frontiers in Genetics, 2020
Introducing the first whole genomes of nationals from the United Arab Emirates.
AlSafar HS et al.
Scientific Reports, 2019
Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report.
Zhang X et al.
Bmc Neurology, 2018
Validation of CZECANCA (CZEch CAncer paNel for Clinical Application) for targeted NGS-based analysis of hereditary cancer syndromes.
Soukupova J et al.
Plos One, 2018
Genetic predisposition to lung cancer: comprehensive literature integration, meta-analysis, and multiple evidence assessment of candidate-gene association studies.
Wang J et al.
Scientific Reports, 2017
Assessing the capability of massively parallel sequencing for opportunistic pharmacogenetic screening.
Ng D et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Nucleotide excision repair pathway gene polymorphisms are linked to breast cancer risk in a Chinese population.
He BS et al.
Oncotarget, 2016
A common founding clone with TP53 and PTEN mutations gives rise to a concurrent germ cell tumor and acute megakaryoblastic leukemia.
Lu C et al.
Cold Spring Harbor Molecular Case Studies, 2016
Tobacco habituated and non-habituated subjects exhibit different mutational spectrums in head and neck squamous cell carcinoma.
Rawal RM et al.
3 Biotech, 2015
CDH1 germ-line missense mutation identified by multigene sequencing in a family with no history of diffuse gastric cancer.
Lajus TB et al.
Gene, 2015
Polymorphisms in nucleotide excision repair genes and susceptibility to colorectal cancer in the Polish population.
Paszkowska-Szczur K et al.
Molecular Biology Reports, 2015
DNA repair gene polymorphisms in B cell non-Hodgkin's lymphoma.
Bahceci A et al.
Tumour Biology : the Journal of the International Society for Oncodevelopmental Biology and Medicine, 2015
Genetic variation in platinating agent and taxane pathway genes as predictors of outcome and toxicity in advanced non-small-cell lung cancer.
Lamba JK et al.
Pharmacogenomics, 2014
Polymorphisms in XPC provide prognostic information in acute myeloid leukemia.
Xu P et al.
International Journal of Hematology, 2012
Sequencing and analysis of a South Asian-Indian personal genome.
Gupta R et al.
Bmc Genomics, 2012
Single-nucleotide polymorphisms in DNA repair genes and association with breast cancer risk in the web study.
Roberts MR et al.
Carcinogenesis, 2011
A prevalent mutation with founder effect in xeroderma pigmentosum group C from north Africa.
Soufir N et al.
The Journal of Investigative Dermatology, 2010