Associated Papers
A prospective, multicenter, comprehensive genomic profile signature study in patients with EGFR-mutant advanced non-small cell lung cancer at the first-line treatment failure of osimertinib.
Shi Y et al.
Signal Transduction and Targeted Therapy, 2025
Functional verification and allele-specific silencing of a novel AKT3 variant that causes megalencephaly, polymicrogyria and intractable epilepsy.
Miyamoto Y et al.
Journal of Human Genetics, 2025
Detection of brain somatic mutations from stereo-EEG electrodes in focal epilepsy: Current advances and future perspectives.
Checri R et al.
Revue Neurologique, 2025
The phenotypic and genetic spectrum of AKT3-related neurodevelopmental condition.
Wang X et al.
Scientific Reports, 2025
The genetic landscape and classification of infantile epileptic spasms syndrome requiring surgery due to suspected focal brain malformations.
Coleman M et al.
Brain Communications, 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
Analysis of 1386 epileptogenic brain lesions reveals association with DYRK1A and EGFR.
Boßelmann CM et al.
Nature Communications, 2024
Threshold of somatic mosaicism leading to brain dysfunction with focal epilepsy.
Kim J et al.
Brain : a Journal of Neurology, 2024
A spectrum of AKT3 activating mutations cause focal malformations of cortical development (FMCDs) in cortical organoids.
Xu Y et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2024
Epilepsy with faint capillary malformation or reticulated telangiectasia associated with mosaic AKT3 pathogenic variants.
De Bortoli M et al.
American Journal of Medical Genetics. Part A, 2024
Targeting pathological cells with senolytic drugs reduces seizures in neurodevelopmental mTOR-related epilepsy.
Ribierre T et al.
Nature Neuroscience, 2024
Ectopic HCN4 Provides a Target Biomarker for the Genetic Spectrum of mTORopathies.
Coleman M et al.
Neurology. Genetics, 2024
Prenatal Ultrasound Diagnosis of Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome with Persistent Hyperplastic Primary Vitreous: A Case Report.
Su XR et al.
Fetal Diagnosis and Therapy, 2024
The somatic p.T81dup variant in AKT3 gene underlies a mild cerebral phenotype and expands the spectrum including capillary malformation and lateralized overgrowth.
Luca M et al.
Genes, Chromosomes & Cancer, 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
Circulating tumor DNA landscape and prognostic impact of acquired resistance to targeted therapies in cancer patients: a national center for precision medicine (PRISM) study.
Bayle A et al.
Molecular Cancer, 2023
A biobank of pediatric patient-derived-xenograft models in cancer precision medicine trial MAPPYACTS for relapsed and refractory tumors.
Marques Da Costa ME et al.
Communications Biology, 2023
Standing in the canine precision medicine knowledge gap: Improving annotation of canine cancer genomic biomarkers through systematic comparative analysis of human cancer mutations in COSMIC.
Sakthikumar S et al.
Veterinary and Comparative Oncology, 2023
Dynamic ctDNA Mutational Complexity in Patients with Melanoma Receiving Immunotherapy.
Fitzgerald S et al.
Molecular Diagnosis & Therapy, 2023
Ultra-Low Level Somatic Mutations and Structural Variations in Focal Cortical Dysplasia Type II.
Kim JH et al.
Annals of Neurology, 2023
Mosaic pathogenic variants in AKT3 cause capillary malformation and undergrowth.
Bolli A et al.
American Journal of Medical Genetics. Part A, 2023
An integrated genetic analysis of epileptogenic brain malformed lesions.
Fujita A et al.
Acta Neuropathologica Communications, 2023
Detection of brain somatic mutations in focal cortical dysplasia during epilepsy presurgical workup.
Checri R et al.
Brain Communications, 2023
Druggable genomic landscapes of high-grade gliomas.
Ghanem P et al.
Frontiers in Medicine, 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
Somatic variants in diverse genes leads to a spectrum of focal cortical malformations.
Lai D et al.
Brain : a Journal of Neurology, 2022
Targeted Next-Generation Sequencing of Thymic Epithelial Tumours Revealed Pathogenic Variants in KIT, ERBB2, KRAS, and TP53 in 30% of Thymic Carcinomas.
Szpechcinski A et al.
Cancers, 2022
Cutaneous vascular anomalies associated with a mosaic variant of AKT3: Genetic analysis continues to refine the diagnosis, nomenclature, and classification of vascular anomalies.
Davies OMT et al.
Journal of the American Academy of Dermatology, 2022
Base editing sensor libraries for high-throughput engineering and functional analysis of cancer-associated single nucleotide variants.
Sánchez-Rivera FJ et al.
Nature Biotechnology, 2022
Systematic review and meta-analysis of genomic alterations in acral melanoma.
Broit N et al.
Pigment Cell & Melanoma Research, 2022
Profiling PI3K-AKT-MTOR variants in focal brain malformations reveals new insights for diagnostic care.
Pirozzi F 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
Cortical Dysplasia and the mTOR Pathway: How the Study of Human Brain Tissue Has Led to Insights into Epileptogenesis.
Lee WS et al.
International Journal of Molecular Sciences, 2022
The clinical significance of adenomatous polyposis coli (APC) and catenin Beta 1 (CTNNB1) genetic aberrations in patients with melanoma.
Karachaliou GS et al.
Bmc Cancer, 2022
Calibration-free NGS quantitation of mutations below 0.01% VAF.
Dai P et al.
Nature Communications, 2021
Oncogene Concatenated Enriched Amplicon Nanopore Sequencing for rapid, accurate, and affordable somatic mutation detection.
Thirunavukarasu D et al.
Genome Biology, 2021
Comprehensive characterization of 536 patient-derived xenograft models prioritizes candidatesfor targeted treatment.
Sun H et al.
Nature Communications, 2021
Precision Therapy for Epilepsy Related to Brain Malformations.
D'Gama AM et al.
Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics, 2021
Detection of Brain Somatic Mutations in Cerebrospinal Fluid from Refractory Epilepsy Patients.
Kim S et al.
Annals of Neurology, 2021
Toward a better definition of focal cortical dysplasia: An iterative histopathological and genetic agreement trial.
Blümcke I et al.
Epilepsia, 2021
Distinct mutational backgrounds and clonal architectures implicated prognostic discrepancies in small-cell carcinomas of the esophagus and lung.
Song Z et al.
Cell Death & Disease, 2021
The spatial phenotype of genotypically distinct meningiomas demonstrate potential implications of the embryology of the meninges.
Fountain DM et al.
Oncogene, 2021
Convergent and Divergent Mechanisms of Epileptogenesis in mTORopathies.
Nguyen LH et al.
Frontiers in Neuroanatomy, 2021