ArticleHuman molecular genetics2009
Linkage and linkage disequilibrium scan for autism loci in an extended pedigree from Finland.
Article in Human molecular genetics, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 1 of them a synthesis that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
15 citing papers in PubMed, 1 synthesis or guideline pooled it, 30 citations in OpenAlex.
- Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia.Molecular autism · 2017Pooled it
- Chronic Physical Pain in Children With and Without Autism Spectrum Disorder in the United States: Findings from the 2016 - 2021 National Survey of Children's Health.Journal of autism and developmental disorders · 2026Article
- Autism and Migraine: An Unexplored Association?Brain sciences · 2020Review
- Gain-of-function defects of astrocytic Kir4.1 channels in children with autism spectrum disorders and epilepsy.Scientific reports · 2016Article
- The role of glial-specific Kir4.1 in normal and pathological states of the CNS.Acta neuropathologica · 2016Review
- Identification of rare DNA sequence variants in high-risk autism families and their prevalence in a large case/control population.Molecular autism · 2014Article
- Rare-variant extensions of the transmission disequilibrium test: application to autism exome sequence data.American journal of human genetics · 2014Article
- A molecular genetic study of autism and related phenotypes in extended pedigrees.Journal of neurodevelopmental disorders · 2013Article
- Identification of Xq22.1-23 as a region linked with hereditary recurrent spontaneous abortion in a family.Iranian journal of reproductive medicine · 2013Article
- A Novel Stratification Method in Linkage Studies to Address Inter- and Intra-Family Heterogeneity in Autism.PloS one · 2013Article
- Major channels involved in neuropsychiatric disorders and therapeutic perspectives.Frontiers in genetics · 2013Article
- Identification of rare variants from exome sequence in a large pedigree with autism.Human heredity · 2012Article
- High frequency of known copy number abnormalities and maternal duplication 15q11-q13 in patients with combined schizophrenia and epilepsy.BMC medical genetics · 2011Article
- Why are autism spectrum conditions more prevalent in males?PLoS biology · 2011Review
- Mutation of Semaphorin-6A disrupts limbic and cortical connectivity and models neurodevelopmental psychopathology.PloS one · 2011Article
Corrections and comments
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Authors and funding
9 authors at 4 institutions in 3 countries.
Funding
Abstract
Population isolates, such as Finland, have proved beneficial in mapping rare causative genetic variants due to a limited number of founders resulting in reduced genetic heterogeneity and extensive linkage disequilibrium (LD). We have here used this special opportunity to identify rare alleles in autism by genealogically tracing 20 autism families into one extended pedigree with verified genealogical links reaching back to the 17th century. In this unique pedigree, we performed a dense microsatellite marker genome-wide scan of linkage and LD and followed initial findings with extensive fine-mapping. We identified a putative autism susceptibility locus at 19p13.3 and obtained further evidence for previously identified loci at 1q23 and 15q11-q13. Most promising candidate genes were TLE2 and TLE6 clustered at 19p13 and ATP1A2 at 1q23.
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Registered trials
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