Associated Papers
Deep tissue sequencing improves genetic diagnostic yield in focal cortical dysplasia.
Galea B et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
PIK3CB Inhibitor GSK2636771 in Cancers With PTEN Mutation/Deletion or Loss of PTEN Protein Expression: Results From the NCI-MATCH ECOG-ACRIN Trial (EAY131) Subprotocols N and P.
Janku F et al.
Jco Precision Oncology, 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
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
Impact and Reproducibility of In-House Targeted Next-Generation Sequencing Biomarker Testing in Non-Small-Cell Lung Cancer: An Italian Multi-Institutional Experience.
Rapa I et al.
The Journal of Molecular Diagnostics : Jmd, 2025
A comprehensive benchmark for multiple highly efficient base editors with broad targeting scope.
Wang X et al.
Biorxiv : the Preprint Server for Biology, 2025
Transcriptomic and morphologic vascular aberrations underlying FCDIIb etiology.
Fang C et al.
Nature Communications, 2025
DNA damage response and repair gene mutations predict clinical outcomes in biliary tract cancer.
Tan S et al.
Cancer, 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
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
Detection of somatic and germline pathogenic variants in adult cohort of drug-resistant focal epilepsies.
Ferri L et al.
Epilepsy & Behavior : E&b, 2024
Parathyroid cancer with MTOR gene mutation: Case report and review of the literature.
Stark J et al.
Annales D'endocrinologie, 2023
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
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
Parathyroid carcinoma: molecular therapeutic targets.
Marini F et al.
Endocrine, 2023
Clinical Implications of mTOR Expression in Papillary Thyroid Cancer-A Systematic Review.
Derwich A et al.
Cancers, 2023
mTORC1 upregulates B7-H3/CD276 to inhibit antitumor T cells and drive tumor immune evasion.
Liu HJ et al.
Nature Communications, 2023
An integrated genetic analysis of epileptogenic brain malformed lesions.
Fujita A et al.
Acta Neuropathologica Communications, 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
Genetic Testing for Malformations of Cortical Development: A Clinical Diagnostic Study.
Straka B et al.
Neurology. Genetics, 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
Genetics and Epigenetics of Parathyroid Carcinoma.
Marini F et al.
Frontiers in Endocrinology, 2022
Is Focal Cortical Dysplasia/Epilepsy Caused by Somatic MTOR Mutations Always a Unilateral Disorder?
Guerrini R et al.
Neurology. Genetics, 2021
Predictive Biomarkers for Immune Checkpoint Inhibitors in Metastatic Breast Cancer.
Sivapiragasam A et al.
Cancer Medicine, 2021
Convergent and Divergent Mechanisms of Epileptogenesis in mTORopathies.
Nguyen LH et al.
Frontiers in Neuroanatomy, 2021
Accurate Detection of Hot-Spot MTOR Somatic Mutations in Archival Surgical Specimens of Focal Cortical Dysplasia by Molecular Inversion Probes.
Dimartino P et al.
Molecular Diagnosis & Therapy, 2020
mTOR-mediated cancer drug resistance suppresses autophagy and generates a druggable metabolic vulnerability.
Gremke N et al.
Nature Communications, 2020
Somatic Evolution in Non-neoplastic IBD-Affected Colon.
Olafsson S et al.
Cell, 2020
Genomic and Epigenetic Advances in Focal Cortical Dysplasia Types I and II: A Scoping Review.
Jesus-Ribeiro J et al.
Frontiers in Neuroscience, 2020
Precise detection of low-level somatic mutation in resected epilepsy brain tissue.
Sim NS et al.
Acta Neuropathologica, 2019
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
Dissecting the genetic basis of focal cortical dysplasia: a large cohort study.
Baldassari S et al.
Acta Neuropathologica, 2019
Pathological mTOR mutations impact cortical development.
Tarkowski B et al.
Human Molecular Genetics, 2019
Rapamycin directly activates lysosomal mucolipin TRP channels independent of mTOR.
Zhang X et al.
Plos Biology, 2019
The role of somatic mutational events in the pathogenesis of epilepsy.
Iffland PH et al.
Current Opinion in Neurology, 2019
Current Coverage of the mTOR Pathway by Next-Generation Sequencing Oncology Panels.
Seeboeck R et al.
International Journal of Molecular Sciences, 2019
Analysis on GENIE reveals novel recurrent variants that affect molecular diagnosis of sizable number of cancer patients.
Koyama T et al.
Bmc Cancer, 2019
Brain Somatic Mutations in Epileptic Disorders.
Koh HY et al.
Molecules and Cells, 2018
Integrative omics analyses broaden treatment targets in human cancer.
Sengupta S et al.
Genome Medicine, 2018