Associated Papers
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
Identification of intragenic variants in pediatric patients with intellectual disability in Peru.
Abarca-Barriga HH et al.
Bmc Medical Genomics, 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
39792006 (PubMed )
Supplement: ci4c02022_si_002.xlsx › Sheet1
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
Trio-based exome sequencing reveals a high rate of the de novo variants in intellectual disability.
Brea-Fernández AJ et al.
European Journal of Human Genetics : Ejhg, 2022
Functional and structural analyses of novel Smith-Kingsmore Syndrome-Associated MTOR variants reveal potential new mechanisms and predictors of pathogenicity.
Besterman AD et al.
Plos Genetics, 2021
Feasibility and utility of a panel testing for 114 cancer-associated genes in a clinical setting: A hospital-based study.
Sunami K et al.
Cancer Science, 2019
30742731 (PubMed )
Supplement: CAS-110-1480-s003.xlsx › Table_S3
Longitudinal analysis of treatment-induced genomic alterations in gliomas.
Erson-Omay EZ et al.
Genome Medicine, 2017
28153049 (PubMed )
Supplement: 13073_2017_401_MOESM3_ESM.xlsx › AllMutations_Clonality
Mutation Profiling of Usual Ductal Hyperplasia of the Breast Reveals Activating Mutations Predominantly at Different Levels of the PI3K/AKT/mTOR Pathway.
Jahn SW et al.
The American Journal of Pathology, 2016
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