Associated Papers
Utility of Next-Generation Sequencing in Renal Neoplasia, Including Tumors With Clear Cytoplasm and Rare Phenotypes (ELOC/MITF Alterations and Mismatch Repair Deficiency).
McCarthy M et al.
Mayo Clinic Proceedings, 2026
Prenatal Diagnosis of Malformations of Cortical Development: A Review of Genetic and Imaging Advances.
Hu J et al.
Biomedicines, 2026
Clinicopathological and molecular characterization of seven rare cases of renal cell carcinoma with hemangioblastoma-like features: Expanding the morphological spectrum of renal tumours with tuberous sclerosis complex/mammalian target of rapamycin mutations.
Tao X et al.
Histopathology, 2026
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
Quantitative cytoarchitectural phenotyping of deparaffinized human brain tissues.
Di Meo D et al.
Communications Biology, 2025
Genomic profiling in hepatocellular carcinoma: a real-world retrospective analysis.
Salani F et al.
Esmo Open, 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
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
Comprehensive Evaluation of a 1021-Gene Panel in FFPE and Liquid Biopsy for Analytical and Clinical Use.
Meintani A et al.
International Journal of Molecular Sciences, 2025
Complementary modes of resistance to EGFR TKI in lung adenocarcinoma through MAPK activation and cellular plasticity.
Zatzman M et al.
Biorxiv : the Preprint Server for Biology, 2025
Clonal hematopoiesis is associated with distinct rheumatoid arthritis phenotypes.
Hiitola E et al.
Science Advances, 2025
Cortical Dysplasia Beyond mTOR: Cellular Senescence Takes a Toll.
Zhan Y et al.
Neuroscience Bulletin, 2025
Single-cell genotyping and transcriptomic profiling of mosaic focal cortical dysplasia.
Baldassari S et al.
Nature Neuroscience, 2025
Genomic subtypes of non-muscle-invasive bladder cancer: guiding immunotherapy decision-making for patients exposed to aristolochic acid.
Peng Y et al.
Molecular Medicine (cambridge, Mass.), 2025
How to combine multiple tools for the genetic diagnosis work-up of pediatric B-cell acute lymphoblastic leukemia.
Hidalgo-Gómez G et al.
Annals of Hematology, 2025
Peripheral blood somatic mosaicism and clonal hematopoiesis across ancestry backgrounds.
Colin-Leitzinger C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Genomic Profiling of Cardiac Angiosarcoma Reveals Novel Targetable KDR Variants, Recurrent MED12 Mutations, and a High Burden of Germline POT1 Alterations.
Odintsov I et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2025
The molecular code of kidney cancer: A path of discovery for gene mutation and precision therapy.
Xie D et al.
Molecular Aspects of Medicine, 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
Somatic DNA Variants in Epilepsy Surgery Brain Samples from Patients with Lesional Epilepsy.
Schwarz JM et al.
International Journal of Molecular Sciences, 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
Multi-disciplinary team approach for pediatric hemimegalencephaly: Insights from a single institutional case series.
Edmonds B et al.
Epilepsia Open, 2024
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
Integrating Genetic Alterations and Histopathological Features for Enhanced Risk Stratification in Non-Muscle-Invasive Bladder Cancer.
Lillesand M et al.
Diagnostics (basel, Switzerland), 2024
Threshold of somatic mosaicism leading to brain dysfunction with focal epilepsy.
Kim J et al.
Brain : a Journal of Neurology, 2024
Poor Prognosis among Radiation-Associated Bladder Cancer Is Defined by Clinicogenomic Features.
Wijetunga NA et al.
Cancer Research Communications, 2024
Pathogenic MTOR somatic variant causing focal cortical dysplasia drives hyperexcitability via overactivation of neuronal GluN2C N-methyl-D-aspartate receptors.
Pineau L et al.
Epilepsia, 2024
TP53 and KMT2D mutations associated with worse prognosis in peripheral T-cell lymphomas.
Wang L et al.
Cancer Medicine, 2024
Integrative genomic analysis reveals cancer-associated mutations in patients with ophthalmic tumors.
Zhu F et al.
The Journal of International Medical Research, 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
Detection of somatic and germline pathogenic variants in adult cohort of drug-resistant focal epilepsies.
Ferri L et al.
Epilepsy & Behavior : E&b, 2024
Malformations of cortical development: Fetal imaging and genetics.
Wang LL et al.
Molecular Genetics & Genomic Medicine, 2024
The mTOR pathway genes MTOR, Rheb, Depdc5, Pten, and Tsc1 have convergent and divergent impacts on cortical neuron development and function.
Nguyen LH et al.
Elife, 2024
The mTOR pathway genes mTOR, Rheb, Depdc5, Pten, and Tsc1 have convergent and divergent impacts on cortical neuron development and function.
Nguyen LH et al.
Biorxiv : the Preprint Server for Biology, 2024
Midline non-ictal rhythmic waveforms as possible electroencephalographic biomarkers of Smith-Klingsmore syndrome in children.
Simonelli V et al.
Clinical Neurophysiology Practice, 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
STmut: a framework for visualizing somatic alterations in spatial transcriptomics data of cancer.
Chen L et al.
Genome Biology, 2023