Associated Papers
MSH3 is a genetic modifier of somatic repeat instability in X-linked dystonia parkinsonism.
Mejia Maza A et al.
American Journal of Human Genetics, 2026
Structural pharmacogenomics of drug-associated SNPs in oral squamous cell carcinoma.
Sunil P et al.
Frontiers in Genetics, 2026
Germline Variants in the Immune Response-Related Genes: Possible Modifying Effect on Age-Dependent BRCA1 Penetrance in Breast Cancer Patient.
Kuligina ES et al.
Cancers, 2025
Somatic DICER1 pathogenic variants detected in a well-differentiated fetal lung adenocarcinoma diagnosed in a man with familial adenomatous polyposis.
Ahmed A et al.
Bjc Reports, 2025
Feasibility of long-read sequencing to identify molecular alterations in an Indonesian cohort of locally advanced to advanced nasopharyngeal cancer.
Handoko et al.
Scientific Reports, 2025
MSH3 is a genetic modifier of somatic repeat instability in X-linked dystonia parkinsonism.
Maza AM et al.
Biorxiv : the Preprint Server for Biology, 2025
Establishment and genomic profiling of cholangiocarcinoma cells with functional characterization.
Jaidee R et al.
Scientific Reports, 2025
Novel De Novo BRCA2 Variant in an Early-Onset Ovarian Cancer Reveals a Unique Tumor Evolution Pathway.
Miolo G et al.
International Journal of Molecular Sciences, 2025
Exome sequencing reveals a rare damaging variant in GRIN2C in familial late-onset Alzheimer's disease.
Rubino E et al.
Alzheimer's Research & Therapy, 2025
Translational and clinical comparison of whole genome and transcriptome to panel sequencing in precision oncology.
Kerle IA et al.
Npj Precision Oncology, 2025
Combining germline, tissue and liquid biopsy analysis by comprehensive genomic profiling to improve the yield of actionable variants in a real-world cancer cohort.
Vanni I et al.
Journal of Translational Medicine, 2024
Response prediction in patients with gastric and esophagogastric adenocarcinoma under neoadjuvant chemotherapy using targeted gene expression analysis and next-generation sequencing in pre-therapeutic biopsies.
Kleo K et al.
Journal of Cancer Research and Clinical Oncology, 2023
Genetic map of regional sulcal morphology in the human brain from UK biobank data.
Sun BB et al.
Nature Communications, 2022
The Genomic Landscape of Corticotroph Tumors: From Silent Adenomas to ACTH-Secreting Carcinomas.
Andonegui-Elguera S et al.
International Journal of Molecular Sciences, 2022
Mutations of MSH5 in nonobstructive azoospermia (NOA) and rescued via in vivo gene editing.
Chen M et al.
Signal Transduction and Targeted Therapy, 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
Identifying genetic modifiers of age-associated penetrance in X-linked dystonia-parkinsonism.
Laabs BH et al.
Nature Communications, 2021
A chemical genetic screen identifies Aurora kinases as a therapeutic target in EGFR T790M negative, gefitinib-resistant head and neck squamous cell carcinoma (HNSCC).
Low JL et al.
Ebiomedicine, 2021
DNA Mismatch Repair Gene Variants in Sporadic Solid Cancers.
Caja F et al.
International Journal of Molecular Sciences, 2020
Targeted deep-intronic sequencing in a cohort of unexplained cases of suspected Lynch syndrome.
Arnold AM et al.
European Journal of Human Genetics : Ejhg, 2020
Development of an MSI-positive colon tumor with aberrant DNA methylation in a PPAP patient.
Yamaguchi K et al.
Journal of Human Genetics, 2019
MSH3 modifies somatic instability and disease severity in Huntington's and myotonic dystrophy type 1.
Flower M et al.
Brain : a Journal of Neurology, 2019
appreci8: a pipeline for precise variant calling integrating 8 tools.
Sandmann S et al.
Bioinformatics (oxford, England), 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
Targeted exome sequencing reveals distinct pathogenic variants in Iranians with colorectal cancer.
Ashktorab H et al.
Oncotarget, 2017
Identification of cancer predisposition variants in apparently healthy individuals using a next-generation sequencing-based family genomics approach.
Karageorgos I et al.
Human Genomics, 2015
The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.
Tang X et al.
Nucleic Acids Research, 2014
DNA mismatch repair network gene polymorphism as a susceptibility factor for pancreatic cancer.
Dong X et al.
Molecular Carcinogenesis, 2012