Associated Papers
Decoding Genetic Disease Through the Skin: Lessons From the UDN.
Sivadas A et al.
International Journal of Dermatology, 2026
Comparative Analysis of a Dual DNA-RNA Panel and a DNA-Only Panel for Sarcoma: Real-World Data From a Nationwide Genomic Database.
Nakata E et al.
Cancer Science, 2026
Molecular analysis of the evolutionary history of endometrial and ovarian carcinoma in Lynch syndrome.
Kauppinen AK et al.
International Journal of Cancer, 2025
Clinical exome sequencing efficacy and phenotypic expansions involving non-isolated congenital anomalies of kidney and urinary tract (CAKUT+).
Rivera-Munoz EA et al.
European Journal of Human Genetics : Ejhg, 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
Neurobehavioral Signatures in Overgrowth Intellectual Disability Syndromes: Dissecting Genotype-Phenotype Relationships in the PI3K-AKT-MTOR Pathway.
Besterman AD et al.
Medrxiv : the Preprint Server for Health Sciences, 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
Exploring the Genetic and Clinical Landscape of Dedifferentiated Endometrioid Carcinoma.
Haraga H et al.
International Journal of Molecular 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
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
Integrating Genetic Alterations and Histopathological Features for Enhanced Risk Stratification in Non-Muscle-Invasive Bladder Cancer.
Lillesand M et al.
Diagnostics (basel, Switzerland), 2024
Characterizing the Mutational Landscape of Diffuse Large B-Cell Lymphoma in a Prospective Cohort of Mexican Patients.
Candelaria M et al.
International Journal of Molecular Sciences, 2024
Protein interaction network analysis of mTOR signaling reveals modular organization.
Wehle DT et al.
The Journal of Biological Chemistry, 2023
Protein interaction network analysis of mTOR signaling reveals modular organization.
Wehle DT et al.
Biorxiv : the Preprint Server for Biology, 2023
Developmental and epileptic encephalopathies: from genetic heterogeneity to phenotypic continuum.
Guerrini R et al.
Physiological Reviews, 2023
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
Brain Tissue Low-Level Mosaicism for MTOR Mutation Causes Smith-Kingsmore Phenotype with Recurrent Hypoglycemia-A Novel Phenotype and a Further Proof for Testing of an Affected Tissue.
Szczałuba K et al.
Diagnostics (basel, Switzerland), 2021
Novel neonatal presentation of megalencephaly-polymicrogyria-pigmentary mosaicism syndrome (MPPM) related to MTOR mutation: Report of a case.
Taylor DL et al.
Pediatric Dermatology, 2021
Is Focal Cortical Dysplasia/Epilepsy Caused by Somatic MTOR Mutations Always a Unilateral Disorder?
Guerrini R et al.
Neurology. Genetics, 2021
Ultradeep targeted sequencing of circulating tumor DNA in plasma of early and advanced breast cancer.
Chin YM et al.
Cancer Science, 2021
CD8+ cell somatic mutations in multiple sclerosis patients and controls-Enrichment of mutations in STAT3 and other genes implicated in hematological malignancies.
Valori M et al.
Plos One, 2021
Diagnostic Approach to Macrocephaly in Children.
Accogli A et al.
Frontiers in Pediatrics, 2021
Next-generation sequencing analysis of endometrial screening liquid-based cytology specimens: a comparative study to tissue specimens.
Akahane T et al.
Bmc Medical Genomics, 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
A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing.
Cao Y et al.
Genome Medicine, 2019
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
Investigating adults with early-onset epilepsy and intellectual or physical disability.
Nashef L et al.
Practical Neurology, 2019
Recurrent mosaic MTOR c.5930C > T (p.Thr1977Ile) variant causing megalencephaly, asymmetric polymicrogyria, and cutaneous pigmentary mosaicism: Case report and review of the literature.
Handoko M et al.
American Journal of Medical Genetics. Part A, 2019
Somatic overgrowth disorders of the PI3K/AKT/mTOR pathway & therapeutic strategies.
Keppler-Noreuil KM et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2016
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