Associated Papers
Primary cilia as architects of the neocortex: Roles in brain development, function, and microcephaly.
Thomsen OK et al.
Developmental Cell, 2025
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
Syndrome of the Month: An Update on Smith-Kingsmore Syndrome: Characterization of Developmental Milestones and a Review of the Literature.
Raski CR et al.
American Journal of Medical Genetics. Part A, 2025
Single-cell RNA profiling reveals an immunosuppressive microenvironment in EGFR double-mutant non-small cell lung cancer.
Yang J et al.
Translational Lung Cancer Research, 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
Lack of behavioural improvement with sirolimus in a patient with MTOR-related macrocephaly with pigmentary mosaicism: A new case report.
Bonniaud B et al.
European Journal of Medical Genetics, 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
Clinical and functional studies of MTOR variants in Smith-Kingsmore syndrome reveal deficits of circadian rhythm and sleep-wake behavior.
Liu AC et al.
Hgg Advances, 2024
Broadening the scope of multigene panel analysis for adult epilepsy patients.
Lee S et al.
Epilepsia Open, 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
Smith-Kingsmore syndrome with nystagmus as the initial symptom.
Cai M et al.
Acta Epileptologica, 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
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
Mutational profiling of Chinese patients with thyroid cancer.
Du Y et al.
Frontiers in Endocrinology, 2023
Primary Cilia Dysfunction in Neurodevelopmental Disorders beyond Ciliopathies.
Karalis V et al.
Journal of Developmental Biology, 2022
Clinical and genetic analysis of patients with segmental overgrowth features and somatic mammalian target of rapamycin (mTOR) pathway disruption: Possible novel clinical issues.
Romano F et al.
Birth Defects Research, 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
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
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
Delineating the Smith-Kingsmore syndrome phenotype: Investigation of 16 patients with the MTOR c.5395G > A p.(Glu1799Lys) missense variant.
Poole RL et al.
American Journal of Medical Genetics. Part A, 2021
Non-Cell Autonomous Epileptogenesis in Focal Cortical Dysplasia.
Koh HY et al.
Annals of Neurology, 2021
A new case of Smith-Kingsmore syndrome with somatic MTOR pathogenic variant expands the phenotypic spectrum to lateralized overgrowth.
Carli D et al.
Clinical Genetics, 2021
Genomic profile of advanced breast cancer in circulating tumour DNA.
Kingston B et al.
Nature Communications, 2021
Is Focal Cortical Dysplasia/Epilepsy Caused by Somatic MTOR Mutations Always a Unilateral Disorder?
Guerrini R et al.
Neurology. Genetics, 2021
Spectrum of histiocytic neoplasms associated with diverse haematological malignancies bearing the same oncogenic mutation.
Kemps PG et al.
The Journal of Pathology. Clinical Research, 2021
DNA Methylation, Deamination, and Translesion Synthesis Combine to Generate Footprint Mutations in Cancer Driver Genes in B-Cell Derived Lymphomas and Other Cancers.
Rogozin IB et al.
Frontiers in Genetics, 2021
Integrated Analysis of Genomic and Immunological Features in Lung Adenocarcinoma With Micropapillary Component.
Zhang S et al.
Frontiers in Oncology, 2021
Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.
Hescheler DA et al.
Frontiers in Endocrinology, 2021
Diagnostic Approach to Macrocephaly in Children.
Accogli A et al.
Frontiers in Pediatrics, 2021
mTOR: Role in cancer, metastasis and drug resistance.
Murugan AK
Seminars in Cancer Biology, 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
Interplay between primary cilia, ubiquitin-proteasome system and autophagy.
Boukhalfa A et al.
Biochimie, 2019