ArticleAmerican journal of human genetics2003
Fine mapping of autistic disorder to chromosome 15q11-q13 by use of phenotypic subtypes.
Article in American journal of human genetics, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 139 papers, 2 of them syntheses that pooled it.
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Who cites it
139 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Biopsychological correlates of repetitive and restricted behaviors in autism spectrum disorders.Brain and behavior · 2021Pooled it
- Meta-analysis of GABRB3 Gene Polymorphisms and Susceptibility to Autism Spectrum Disorder.Journal of molecular neuroscience : MN · 2018Pooled it
- GABAergic Inhibition Gates Perceptual Awareness During Binocular Rivalry.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2019Trial
- Role of GABAMolecular biology reports · 2026Article
- The First 30 Days Postnatal of the GABA Receptor: A Comprehensive Overview.Molecular neurobiology · 2025Review
- Neurometabolic profiles of autism spectrum disorder patients with genetic variants in specific neurotransmission and synaptic genes.Scientific reports · 2025Article
- The association between infant EEG aperiodic exponent and the trajectory of restricted and repetitive behaviors for toddlers with and without autism.Journal of neurodevelopmental disorders · 2025Article
- Autistic Traits as Predictors of Increased Obsessive-Compulsive Disorder Severity: The Role of Inflexibility and Communication Impairment.Brain sciences · 2024Article
- Identification of Homogeneous Subgroups from Resting-State fMRI Data.Sensors (Basel, Switzerland) · 2023Article
- Intraneuronal accumulation of amyloid-β peptides as the pathomechanism linking autism and its co-morbidities: epilepsy and self-injurious behavior - the hypothesis.Frontiers in molecular neuroscience · 2023Article
- Subdomains of restricted and repetitive behaviors within autism: Exploratory structural equation modeling using the diagnostic interview for social and communication disorders.Autism research : official journal of the International Society for Autism Research · 2022Article
- Brief Report: Role of Parent-Reported Executive Functioning and Anxiety in Insistence on Sameness in Individuals with Germline PTEN Mutations.Journal of autism and developmental disorders · 2022Article
- Alterations of presynaptic proteins in autism spectrum disorder.Frontiers in molecular neuroscience · 2022Review
- Using the big data approach to clarify the structure of restricted and repetitive behaviors across the most commonly used autism spectrum disorder measures.Molecular autism · 2021Article
- Differences in subcortico-cortical interactions identified from connectome and microcircuit models in autism.Nature communications · 2021Article
- The Role of Ion Channel-Related Genes in Autism Spectrum Disorder: A Study Using Next-Generation Sequencing.Frontiers in genetics · 2021Article
- Autism spectrum disorder-like behavior caused by reduced excitatory synaptic transmission in pyramidal neurons of mouse prefrontal cortex.Nature communications · 2020Article
- Enhanced accumulation of N-terminally truncated Aβ with and without pyroglutamate-11 modification in parvalbumin-expressing GABAergic neurons in idiopathic and dup15q11.2-q13 autism.Acta neuropathologica communications · 2020Article
- Measurement of subcategories of repetitive behaviors in autistic adolescents and adults.Autism in adulthood · 2020Article
- Quantitative analysis of phenotypic elements augments traditional electroclinical classification of common familial epilepsies.Epilepsia · 2019Article
79 more citing papers are in PubMed but not listed here.
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15 authors.
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Abstract
Autistic disorder (AutD) is a complex genetic disease. Available evidence suggests that several genes contribute to the underlying genetic risk for the development of AutD. However, both etiologic heterogeneity and genetic heterogeneity confound the discovery of AutD-susceptibility genes. Chromosome 15q11-q13 has been identified as a strong candidate region on the basis of both the frequent occurrence of chromosomal abnormalities in that region and numerous suggestive linkage and association findings. Ordered-subset analysis (OSA) is a novel statistical method to identify a homogeneous subset of families that contribute to overall linkage at a given chromosomal location and thus to potentially help in the fine mapping and localization of the susceptibility gene within a chromosomal area. For the present analysis, a factor that represents insistence on sameness (IS)--derived from a principal-component factor analysis using data on 221 patients with AutD from the repetitive behaviors/stereotyped patterns domain in the Autism Diagnostic Interview-Revised--was used as a covariate in OSA. Analysis of families sharing high scores on the IS factor increased linkage evidence for the 15q11-q13 region, at the GABRB3 locus, from a LOD score of 1.45 to a LOD score of 4.71. These results narrow our region of interest on chromosome 15 to an area surrounding the gamma-aminobutyric acid-receptor subunit genes, in AutD, and support the hypothesis that the analysis of phenotypic homogeneous subtypes may be a powerful tool for the mapping of disease-susceptibility genes in complex traits.
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