Associated Papers
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
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
Single-Nucleotide Polymorphisms Associated with Mercury Levels and Neurological Symptoms: An Overview.
Perini JA et al.
Toxics, 2024
PSEN1 His214Asn Mutation in a Korean Patient with Familial EOAD and the Importance of Histidine-Tryptophan Interactions in TM-4 Stability.
Bagyinszky E et al.
International Journal of Molecular Sciences, 2023
Patient with PSEN1 Glu318Gly and Other Possible Disease Risk Mutations, Diagnosed with Early Onset Alzheimer's Disease.
Yang Y et al.
International Journal of Molecular Sciences, 2023
Role of TET1-mediated epigenetic modulation in Alzheimer's disease.
Armstrong MJ et al.
Neurobiology of Disease, 2023
Isolation and characterization of two newly established thymoma PDXs from two relapses of the same patient: a new tool to investigate thymic malignancies.
Mendogni P et al.
Journal of Experimental & Clinical Cancer Research : Cr, 2022
PSEN2 Thr421Met Mutation in a Patient with Early Onset Alzheimer's Disease.
Yang Y et al.
International Journal of Molecular Sciences, 2022
Sensitization of Patient-Derived Colorectal Cancer Organoids to Photon and Proton Radiation by Targeting DNA Damage Response Mechanisms.
Pape K et al.
Cancers, 2022
Characterization of somatic mutations and pathway alterations during hepatocellular carcinoma vascular invasion using next-generation sequencing.
Li Q et al.
Journal of Gastrointestinal Oncology, 2022
Cancer genomic profiling identified dihydropyrimidine dehydrogenase deficiency in bladder cancer promotes sensitivity to gemcitabine.
Tsukahara S et al.
Scientific Reports, 2022
First case report of a NUP98-PMX1 rearrangement in de novo acute myeloid leukemia and literature review.
Fu W et al.
Bmc Medical Genomics, 2021
Patient-derived organoids and orthotopic xenografts of primary and recurrent gliomas represent relevant patient avatars for precision oncology.
Golebiewska A et al.
Acta Neuropathologica, 2020
Discovery of 318 new risk loci for type 2 diabetes and related vascular outcomes among 1.4 million participants in a multi-ancestry meta-analysis.
Vujkovic M et al.
Nature Genetics, 2020
SDHC epi-mutation testing in gastrointestinal stromal tumours and related tumours in clinical practice.
Casey RT et al.
Scientific Reports, 2019
appreci8: a pipeline for precise variant calling integrating 8 tools.
Sandmann S et al.
Bioinformatics (oxford, England), 2018
Whole exome sequencing in three families segregating a pediatric case of sarcoidosis.
Calender A et al.
Bmc Medical Genomics, 2018
Molecular analysis of aggressive renal cell carcinoma with unclassified histology reveals distinct subsets.
Chen YB et al.
Nature Communications, 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
Sporadic hemangioblastomas are characterized by cryptic VHL inactivation.
Shankar GM et al.
Acta Neuropathologica Communications, 2014