Associated Papers
Ancestry-dependent patterns of somatic mosaicism and clonal hematopoiesis mutations in over 125,000 individuals reveal distinct cancer associations.
Colin-Leitzinger C et al.
Human Genomics, 2025
Deep tissue sequencing improves genetic diagnostic yield in focal cortical dysplasia.
Galea B et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Distinct characteristics of lymphoid and myeloid clonal hematopoiesis in World Trade Center first responders.
Esai Selvan M et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Cell-type-informed genotyping of mosaic focal epilepsies reveals cell-autonomous and non-cell-autonomous disease-associated transcriptional programs.
Bizzotto S et al.
Proceedings of the National Academy of Sciences of the United States of America, 2025
Prognostic significance of circulating tumor DNA alterations in advanced renal cell carcinoma from SCRUM-Japan MONSTAR-SCREEN: a nationwide genomic profiling project.
Kato T et al.
British Journal of Cancer, 2025
Clinical Sequence Revealed the Prevalence and Biological Significance of Somatic Pathogenic Variants in Thoracic Cancer: Implications for Germline Status.
Fukushima T et al.
Clinical Lung Cancer, 2025
Circulating tumor DNA profiling for non-invasive genomic analysis in Indian lung cancer patients: A real-world experience.
Jha P et al.
The Journal of Liquid Biopsy, 2025
Clonal hematopoiesis is associated with distinct rheumatoid arthritis phenotypes.
Hiitola E et al.
Science Advances, 2025
Peripheral blood somatic mosaicism and clonal hematopoiesis across ancestry backgrounds.
Colin-Leitzinger C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
mTOR Variants Activation Discovers PI3K-like Cryptic Pocket, Expanding Allosteric, Mutant-Selective Inhibitor Designs.
Liu Y et al.
Journal of Chemical Information and Modeling, 2025
VarMeter2: An enhanced structure-based method for predicting pathogenic missense variants through Mahalanobis distance.
Ohno S et al.
Computational and Structural Biotechnology Journal, 2025
Genetic validation of a TSC2 immunohistochemistry assay in TSC/mTOR-pathway altered renal tumors.
Akbari A et al.
Human Pathology, 2024
mTOR variants activation discovers PI3K-like cryptic pocket, expanding allosteric, mutant-selective inhibitor designs.
Liu Y et al.
Biorxiv : the Preprint Server for Biology, 2024
Targeting pathological cells with senolytic drugs reduces seizures in neurodevelopmental mTOR-related epilepsy.
Ribierre T et al.
Nature Neuroscience, 2024
The clinical, imaging, pathological and genetic landscape of bottom-of-sulcus dysplasia.
Macdonald-Laurs E et al.
Brain : a Journal of Neurology, 2024
Concordance of MTOR Pathway Mutations and the Diagnosis of Renal Low-Grade Oncocytic Tumor (LOT).
Siegmund SE et al.
International Journal of Surgical Pathology, 2024
Ectopic HCN4 Provides a Target Biomarker for the Genetic Spectrum of mTORopathies.
Coleman M et al.
Neurology. Genetics, 2024
RNA-seq-based miRNA signature as an independent predictor of relapse in pediatric B-cell acute lymphoblastic leukemia.
Kubota H et al.
Blood Advances, 2024
mTOR Pathway Somatic Pathogenic Variants in Focal Malformations of Cortical Development: Novel Variants, Topographic Mapping, and Clinical Outcomes.
Krochmalnek E et al.
Neurology. Genetics, 2023
mTOR eosinophilic renal cell carcinoma: a distinctive tumor characterized by mTOR mutation, loss of chromosome 1, cathepsin-K expression, and response to target therapy.
Caliò A et al.
Virchows Archiv : an International Journal of Pathology, 2023
Genetic testing in children enrolled in epilepsy surgery program. A real-life study.
Straka B et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2023
Evaluation of an institutional series of low-grade oncocytic tumor (LOT) of the kidney and review of the mutational landscape of LOT.
Ricci C et al.
Virchows Archiv : an International Journal of Pathology, 2023
Protocol optimization of a targeted sequencing panel for genomic profiling of bronchoalveolar lavage fluid in lung cancer.
Sather CL et al.
Cancer Medicine, 2023
Ultra-Low Level Somatic Mutations and Structural Variations in Focal Cortical Dysplasia Type II.
Kim JH et al.
Annals of Neurology, 2023
An integrated genetic analysis of epileptogenic brain malformed lesions.
Fujita A et al.
Acta Neuropathologica Communications, 2023
The clinico-pathological characterisation of focal cortical dysplasia type IIb genetically defined by MTOR mosaicism.
Wang Y et al.
Neuropathology and Applied Neurobiology, 2023
Droplet digital PCR as a first-tier molecular diagnostic tool for focal cortical dysplasia type II.
Lee WS et al.
Brain : a Journal of Neurology, 2022
TSC/MTOR -associated Eosinophilic Renal Tumors Exhibit a Heterogeneous Clinicopathologic Spectrum : A Targeted Next-generation Sequencing and Gene Expression Profiling Study.
Xia QY et al.
The American Journal of Surgical Pathology, 2022
Genetic Testing for Malformations of Cortical Development: A Clinical Diagnostic Study.
Straka B et al.
Neurology. Genetics, 2022
Activating mTOR Mutations Are Detrimental in Nutrient-Poor Conditions.
Bielska AA et al.
Cancer Research, 2022
Clinical value of next-generation sequencing in guiding decisions regarding endocrine therapy for advanced HR-positive/HER-2-negative breast cancer.
Lyu D et al.
Chinese Journal of Cancer Research = Chung-kuo Yen Cheng Yen Chiu, 2022
Somatic variants in diverse genes leads to a spectrum of focal cortical malformations.
Lai D et al.
Brain : a Journal of Neurology, 2022
CfDNA Measurement as a Diagnostic Tool for the Detection of Brain Somatic Mutations in Refractory Epilepsy.
Mayo S et al.
International Journal of Molecular Sciences, 2022
Clinically actionable cancer somatic variants (CACSV): a tumor interpreted dataset for analytical workflows.
Sobahy TM et al.
Bmc Medical Genomics, 2022
Eosinophilic vacuolated tumor (EVT) of kidney demonstrates sporadic TSC/MTOR mutations: next-generation sequencing multi-institutional study of 19 cases.
Farcaş M et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2022
Phase 2 Study of Dabrafenib Plus Trametinib in Patients With BRAF V600E-Mutant Metastatic NSCLC: Updated 5-Year Survival Rates and Genomic Analysis.
Planchard D et al.
Journal of Thoracic Oncology : Official Publication of the International Association for the Study of Lung Cancer, 2022
Clinical significance of genetic variation in hypertrophic cardiomyopathy: comparison of computational tools to prioritize missense variants.
Barbosa P et al.
Frontiers in Cardiovascular Medicine, 2022
Comprehensive genomic profiling of colorectal cancer patients reveals differences in mutational landscapes among clinical and pathological subgroups.
Li P et al.
Frontiers in Oncology, 2022
Rearrangement-mediated cis-regulatory alterations in advanced patient tumors reveal interactions with therapy.
Zhang Y et al.
Cell Reports, 2021
Calibration-free NGS quantitation of mutations below 0.01% VAF.
Dai P et al.
Nature Communications, 2021
Complementary Role of Circulating Tumor DNA Assessment and Tissue Genomic Profiling in Metastatic Renal Cell Carcinoma.
Zengin ZB et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2021
Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities.
Carmignac V et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Histiocytic and Dendritic Cell Sarcomas of Hematopoietic Origin Share Targetable Genomic Alterations Distinct from Follicular Dendritic Cell Sarcoma.
Massoth LR et al.
The Oncologist, 2021
Toward a better definition of focal cortical dysplasia: An iterative histopathological and genetic agreement trial.
Blümcke I et al.
Epilepsia, 2021