Associated Papers
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
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
Translational and clinical comparison of whole genome and transcriptome to panel sequencing in precision oncology.
Kerle IA et al.
Npj Precision Oncology, 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
Patient tissue-derived FGFR4-variant and wild-type colorectal cancer organoid development and anticancer drug sensitivity testing.
Lin H et al.
Heliyon, 2024
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
Genomic alterations in ovarian endometriosis and subsequently diagnosed ovarian carcinoma.
Linder A et al.
Human Reproduction (oxford, England), 2024
De novo myelodysplastic syndrome in a Rothmund-Thomson Syndrome patient with novel pathogenic RECQL4 variants.
Jiang C et al.
Blood Science (baltimore, Md.), 2023
Sensitization of Patient-Derived Colorectal Cancer Organoids to Photon and Proton Radiation by Targeting DNA Damage Response Mechanisms.
Pape K et al.
Cancers, 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
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
Deleterious Mutations in DNA Repair Gene FANCC Exist in BRCA1/2-Negative Chinese Familial Breast and/or Ovarian Cancer Patients.
Pan ZW et al.
Frontiers in Oncology, 2019
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
Novel compound heterozygous MYO7A mutations in Moroccan families with autosomal recessive non-syndromic hearing loss.
Bakhchane A et al.
Plos One, 2017
Molecular Guided Therapy Provides Sustained Clinical Response in Refractory Choroid Plexus Carcinoma.
Cornelius A et al.
Frontiers in Pharmacology, 2017
Rothmund-Thomson Syndrome: novel pathogenic mutations and frequencies of variants in the RECQL4 and USB1 (C16orf57) gene.
Suter AA et al.
Molecular Genetics & Genomic Medicine, 2016
Identification of HPV integration and gene mutation in HeLa cell line by integrated analysis of RNA-Seq and MS/MS data.
Sun H et al.
Journal of Proteome Research, 2015
Oncogenic mutation profiling in new lung cancer and mesothelioma cell lines.
Lam DC et al.
Oncotargets and Therapy, 2015
Sporadic hemangioblastomas are characterized by cryptic VHL inactivation.
Shankar GM et al.
Acta Neuropathologica Communications, 2014
Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.
Bodian DL et al.
Plos One, 2014
The mutation spectrum in RECQL4 diseases.
Siitonen HA et al.
European Journal of Human Genetics : Ejhg, 2009