Associated Papers
Enabling whole genome sequencing analysis from FFPE specimens in clinical oncology.
Domenico D et al.
Nature Communications, 2025
Genomic profiling in hepatocellular carcinoma: a real-world retrospective analysis.
Salani F et al.
Esmo Open, 2025
Germline Cancer Predisposition Results From the National Cancer Institute-Children's Oncology Group Pediatric MATCH Trial.
Scollon S et al.
Jco Precision Oncology, 2025
SMARCB1-related schwannomatosis and other SMARCB1-associated phenotypes: clinical spectrum and molecular pathogenesis.
Kehrer-Sawatzki H et al.
Familial Cancer, 2025
A neomorphic protein interface catalyzes covalent inhibition of RASG12D aspartic acid in tumors.
Weller C et al.
Science (new York, N.y.), 2025
Genomic landscape of paired primary and peritoneal metastatic lesions in gastric cancer highlights evolutionary dynamics and mutational drivers.
Li S et al.
Journal of Advanced Research, 2025
An Institutional Experience of Genomic Analysis and Methylation Profiling of Thoracic Spinal Meningiomas.
Mannam P et al.
World Neurosurgery, 2025
Performance Comparison of Droplet Digital PCR and Next-Generation Sequencing for Circulating Tumor DNA Detection in Non-Metastatic Rectal Cancer.
Szeto S et al.
Cancer Medicine, 2025
High-throughput screening of human genetic variants by pooled prime editing.
Herger M et al.
Cell Genomics, 2025
SMARCB1 missense mutants disrupt SWI/SNF complex stability and remodeling activity.
Cooper GW et al.
Research Square, 2025
MMR deficiency is frequent in colorectal carcinomas with diffuse SLFN11 immunostaining: clinicopathologic and molecular study of 31 cases identified among 3,300 tumors.
Kaczorowski M et al.
The Journal of Pathology. Clinical Research, 2025
Durable disease regression with copanlisib treatment in PI3K-mutated metastasizing ameloblastoma: A case report.
Lynch MM et al.
Rare Tumors, 2025
Decoding the molecular landscape: HER2 and PD-L1 in advanced gastric cancer.
Yao J et al.
Frontiers in Immunology, 2025
Microdissection of Distinct Morphological Regions Within Uveal Melanomas Identifies Novel Drug Targets.
Toumi E et al.
Cancers, 2024
A novel mutation in SMARCB1 associated with adult Coffin-Siris syndrome and meningioma.
Guo Z et al.
Acta Biochimica Et Biophysica Sinica, 2024
Molecular genetic analysis of colorectal carcinoma with an aggressive extraintestinal immunohistochemical phenotype.
Hrudka J et al.
Scientific Reports, 2024
The Landscape of Point Mutations in Human Protein Coding Genes Leading to Pregnancy Loss.
Maksiutenko EM et al.
International Journal of Molecular Sciences, 2023
Novel SOX10 indel mutations drive schwannomas through impaired transactivation of myelination gene programs.
Williams EA et al.
Neuro-oncology, 2023
Super-enhancer hijacking drives ectopic expression of hedgehog pathway ligands in meningiomas.
Youngblood MW et al.
Nature Communications, 2023
A Carboxy-terminal Smarcb1 Point Mutation Induces Hydrocephalus Formation and Affects AP-1 and Neuronal Signalling Pathways in Mice.
Brugmans AK et al.
Cellular and Molecular Neurobiology, 2023
Concordance between cancer gene alterations in tumor and circulating tumor DNA correlates with poor survival in a real-world precision-medicine population.
Rosenberg S et al.
Molecular Oncology, 2023
Landscape of mSWI/SNF chromatin remodeling complex perturbations in neurodevelopmental disorders.
Valencia AM et al.
Nature Genetics, 2023
SMARCB1 regulates the hypoxic stress response in sickle cell trait.
Soeung M et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
Assessment of the Mutation Profile of Tonsillar Squamous Cell Carcinomas Using Targeted Next-Generation Sequencing.
Park HY et al.
Biomedicines, 2023
Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death.
Byrne AB et al.
Nature Medicine, 2023
Atypical teratoid/rhabdoid tumour with CDK6 amplification in a child: a case report and literature review.
Li Z et al.
Frontiers in Pediatrics, 2023
Enhancing oral squamous cell carcinoma prediction: the prognostic power of the worst pattern of invasion and the limited impact of molecular resection margins.
Hurník P et al.
Frontiers in Oncology, 2023
Whole-Exome Sequencing Among Chinese Patients With Hereditary Diffuse Gastric Cancer.
Liu ZX et al.
Jama Network Open, 2022
Implementation of Public Funded Genome Sequencing in Evaluation of Fetal Structural Anomalies.
So PL et al.
Genes, 2022
Evidence for an association between Coffin-Siris syndrome and congenital diaphragmatic hernia.
Gofin Y et al.
American Journal of Medical Genetics. Part A, 2022
Comprehensive Approach to Genomic and Immune Profiling: Insights of a Real-World Experience in Gynecological Tumors.
Prieto-Potin I et al.
Diagnostics (basel, Switzerland), 2022
SMARCB1-Deficient Cancers: Novel Molecular Insights and Therapeutic Vulnerabilities.
Cooper GW et al.
Cancers, 2022
Feasibility of whole genome and transcriptome profiling in pediatric and young adult cancers.
Shukla N et al.
Nature Communications, 2022
Homologous recombination deficiency in diverse cancer types and its correlation with platinum chemotherapy efficiency in ovarian cancer.
Wen H et al.
Bmc Cancer, 2022
Genomic profiling of sporadic multiple meningiomas.
Erson-Omay EZ et al.
Bmc Medical Genomics, 2022
Evaluation of the Clinical Utility of Genomic Profiling to Inform Selection of Clinical Trial Therapy in Salivary Gland Cancer.
Rack S et al.
Cancers, 2022
Intraventricular Meningiomas: Clinical-Pathological and Genetic Features of a Monocentric Series.
Ammendola S et al.
Current Oncology (toronto, Ont.), 2022
Clinical utility of comprehensive genomic profiling in Japan: Result of PROFILE-F study.
Aoyagi Y et al.
Plos One, 2022
Genomic Features of Interstitial Deletions of Chromosome 9q in Acute Myeloid Leukemia.
Qi Z et al.
Cytogenetic and Genome Research, 2022
Clinicopathologic Characteristics of Grade 2/3 Meningiomas: A Perspective on the Role of Next-Generation Sequencing.
Kim J et al.
Frontiers in Oncology, 2022
Comprehensive germline and somatic genomic profiles of Chinese patients with biliary tract cancer.
Yu H et al.
Frontiers in Oncology, 2022
Primary cutaneous SMARCB1-deficient carcinoma.
Hui Y et al.
Journal of Cutaneous Pathology, 2021