Associated Papers
Circulating cell-free DNA profiling reveals ancestry-dependent genetic variation in metastatic prostate cancer.
Maleknia S et al.
Molecular Biomedicine, 2026
Bridging pleiotropic mechanisms in leprosy type-1 reactions and neurodegenerative diseases.
Fava VM et al.
Scientific Reports, 2025
Clinical and genomic features of Lynch syndrome differ by tumor site and disease spectrum.
Li S et al.
Nature Communications, 2025
Whole-exome sequencing identifies EP300 variants associated with visceral leishmaniasis relapse.
Mukherjee R et al.
International Journal of Biological Macromolecules, 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
Proteogenomic Profiling of Treatment-Naïve Metastatic Malignant Melanoma.
Kuras M et al.
Cancers, 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-cell multi-gene identification of somatic mutations and gene rearrangements in cancer.
Grimes SM et al.
Nar Cancer, 2023
Simplified algorithm for genetic subtyping in diffuse large B-cell lymphoma.
Shen R et al.
Signal Transduction and Targeted Therapy, 2023
Application of circulating tumour DNA in terms of prognosis prediction in Chinese follicular lymphoma patients.
Zhao M et al.
Frontiers in Genetics, 2023
Responses to the Tepotinib in Gastric Cancers with MET Amplification or MET Exon 14 Skipping Mutations and High Expression of Both PD-L1 and CD44.
Sohn SH et al.
Cancers, 2022
Novel Loss-of-Function Mutations in NPR2 Cause Acromesomelic Dysplasia, Maroteaux Type.
Wu J et al.
Frontiers in Genetics, 2022
Dementia-related genetic variants in an Italian population of early-onset Alzheimer's disease.
Bartoletti-Stella A et al.
Frontiers in Aging Neuroscience, 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
CREBBP/EP300 mutations promoted tumor progression in diffuse large B-cell lymphoma through altering tumor-associated macrophage polarization via FBXW7-NOTCH-CCL2/CSF1 axis.
Huang YH et al.
Signal Transduction and Targeted Therapy, 2021
Identification of New Tumor-Related Gene Mutations in Chinese Gastrointestinal Stromal Tumors.
Feng Y et al.
Frontiers in Cell and Developmental Biology, 2021
Polymorphisms Within DNA Double-Strand Breaks Repair-Related Genes Contribute to Structural Chromosome Abnormality in Recurrent Pregnancy Loss.
Cheng Z et al.
Frontiers in Genetics, 2021
Inferring clonal composition from multiple tumor biopsies.
Manica M et al.
Npj Systems Biology and Applications, 2020
Durable benefit from immunotherapy and accompanied lupus erythematosus in pancreatic adenocarcinoma with DNA repair deficiency.
Pang X et al.
Journal for Immunotherapy of Cancer, 2020
Genetic Variants Detected Using Cell-Free DNA from Blood and Tumor Samples in Patients with Inflammatory Breast Cancer.
Winn JS et al.
International Journal of Molecular Sciences, 2020
Dissecting Mechanisms of Melanoma Resistance to BRAF and MEK Inhibitors Revealed Genetic and Non-Genetic Patient- and Drug-Specific Alterations and Remarkable Phenotypic Plasticity.
Hartman ML et al.
Cells, 2020
A novel in-frame mutation in CLN3 leads to Juvenile neuronal ceroid lipofuscinosis in a large Pakistani family.
Sher M et al.
The International Journal of Neuroscience, 2019
Axitinib overcomes multiple imatinib resistant cKIT mutations including the gatekeeper mutation T670I in gastrointestinal stromal tumors.
Liu F et al.
Therapeutic Advances in Medical Oncology, 2019
appreci8: a pipeline for precise variant calling integrating 8 tools.
Sandmann S et al.
Bioinformatics (oxford, England), 2018
Tumorigenicity-associated characteristics of human iPS cell lines.
Yasuda S et al.
Plos One, 2018
Common and Rare Genetic Risk Factors Converge in Protein Interaction Networks Underlying Schizophrenia.
Chang X et al.
Frontiers in Genetics, 2018
Tobacco habituated and non-habituated subjects exhibit different mutational spectrums in head and neck squamous cell carcinoma.
Rawal RM et al.
3 Biotech, 2015
Novel recurrently mutated genes and a prognostic mutation signature in colorectal cancer.
Yu J et al.
Gut, 2015
Biological insights from 108 schizophrenia-associated genetic loci.
Unknown Author
Nature, 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
Associations of genetic variants in the transcriptional coactivators EP300 and PCAF with hepatocellular carcinoma.
Akil A et al.
Cancer Epidemiology, 2012
Confirmation of EP300 gene mutations as a rare cause of Rubinstein-Taybi syndrome.
Zimmermann N et al.
European Journal of Human Genetics : Ejhg, 2007