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
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
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
Exemestane plus everolimus and palbociclib in metastatic breast cancer: clinical response and genomic/transcriptomic determinants of resistance in a phase I/II trial.
Gómez Tejeda Zañudo J et al.
Nature Communications, 2024
mTOR hyperactivity and RICTOR amplification as targets for personalized treatments in malignancies.
Sztankovics D et al.
Pathology Oncology Research : Por, 2024
Genomic landscape and tumor mutational features of resected preinvasive to invasive lung adenocarcinoma.
Lin Y et al.
Frontiers in Oncology, 2024
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
TSC/MTOR mutated renal cell carcinoma with leiomyomatous stroma is a distinct entity: a comprehensive study of 12 cases.
Tjota MY et al.
Human Pathology, 2023
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
In silico comprehensive analysis of coding and non-coding SNPs in human mTOR protein.
Yasmin T
Plos One, 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 characterization of 536 patient-derived xenograft models prioritizes candidatesfor targeted treatment.
Sun H et al.
Nature Communications, 2021
Investigation of PALB2 Mutation and Correlation With Immunotherapy Biomarker in Chinese Non-Small Cell Lung Cancer Patients.
Zhang J et al.
Frontiers in Oncology, 2021
Somatic Evolution in Non-neoplastic IBD-Affected Colon.
Olafsson S et al.
Cell, 2020
Eosinophilic Renal Cell Tumors With a TSC and MTOR Gene Mutations Are Morphologically and Immunohistochemically Heterogenous: Clinicopathologic and Molecular Study.
Tjota M et al.
The American Journal of Surgical Pathology, 2020
Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.
Dong X et al.
Communications Biology, 2020
The Immunogenic Potential of Recurrent Cancer Drug Resistance Mutations: An In Silico Study.
Punta M et al.
Frontiers in Immunology, 2020
The Role of Dynamic ctDNA Monitoring During Combination Therapies of BRAF V600E-Mutated Metastatic Colorectal Cancer: A Case Report.
Wang Z et al.
Oncotargets and Therapy, 2020
Megalencephaly syndromes associated with mutations of core components of the PI3K-AKT-MTOR pathway: PIK3CA, PIK3R2, AKT3, and MTOR.
Dobyns WB et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2019
Brain Somatic Mutations in Epileptic Disorders.
Koh HY et al.
Molecules and Cells, 2018
Somatic Mutations Activating the mTOR Pathway in Dorsal Telencephalic Progenitors Cause a Continuum of Cortical Dysplasias.
D'Gama AM et al.
Cell Reports, 2017
Mechanisms of mTORC1 activation by RHEB and inhibition by PRAS40.
Yang H et al.
Nature, 2017
3D clusters of somatic mutations in cancer reveal numerous rare mutations as functional targets.
Gao J et al.
Genome Medicine, 2017
Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism.
Mirzaa GM et al.
Jama Neurology, 2016
Transforming somatic mutations of mammalian target of rapamycin kinase in human cancer.
Yamaguchi H et al.
Cancer Science, 2015
Cross-cancer profiling of molecular alterations within the human autophagy interaction network.
Lebovitz CB et al.
Autophagy, 2015
Activating mTOR mutations in a patient with an extraordinary response on a phase I trial of everolimus and pazopanib.
Wagle N et al.
Cancer Discovery, 2014
A diverse array of cancer-associated MTOR mutations are hyperactivating and can predict rapamycin sensitivity.
Grabiner BC et al.
Cancer Discovery, 2014
Combined DNA Analysis from Stool and Blood Samples Improves Tumor Tracking and Assessment of Clonal Heterogeneity in Localized Rectal Cancer Patients.
Parigger T et al.
Technology in Cancer Research & Treatment, 0