ArticleAmerican journal of human genetics2013
Intellectual disability is associated with increased runs of homozygosity in simplex autism.
Article in American journal of human genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 44 papers.
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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
44 citing papers in PubMed, 88 citations in OpenAlex.
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- Whole Genome Analysis in Consanguineous Families Reveals New Loci for Speech Sound Disorder (SSD).Genes · 2024Article
- Multilocus pathogenic variants contribute to intrafamilial clinical heterogeneity: a retrospective study of sibling pairs with neurodevelopmental disorders.BMC medical genomics · 2024Article
- Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants.American journal of human genetics · 2023Article
- The genetics of autism spectrum disorder in an East African familial cohort.Cell genomics · 2023Article
- Genome-wide analysis of runs of homozygosity in Pakistani controls with no history of speech or language-related developmental phenotypes.Annals of human biology · 2023Article
- KnockoffTrio: A knockoff framework for the identification of putative causal variants in genome-wide association studies with trio design.American journal of human genetics · 2022Article
- Evidence of transgenerational effects on autism spectrum disorder using multigenerational space-time cluster detection.International journal of health geographics · 2022Article
- Homozygous deletions implicate non-coding epigenetic marks in Autism spectrum disorder.Scientific reports · 2020Article
- Age dependent association of inbreeding with risk for schizophrenia in Egypt.Schizophrenia research · 2020Article
- The Co-existence of ADHD With Autism in Saudi Children: An Analysis Using Next-Generation DNA Sequencing.Frontiers in genetics · 2020Article
- Getting to the Cores of Autism.Cell · 2019Review
- Long contiguous stretches of homozygosity detected by chromosomal microarrays (CMA) in patients with neurodevelopmental disorders in the South of Brazil.BMC medical genomics · 2019Article
- Genome-Wide Homozygosity Mapping Reveals Genes Associated With Cognitive Ability in Children From Saudi Arabia.Frontiers in genetics · 2019Article
- Genomic analysis of family data reveals additional genetic effects on intelligence and personality.Molecular psychiatry · 2018Article
- The Oral health status of children with autism Spectrum disorder in KwaZulu-Nata, South Africa.BMC oral health · 2018Article
- Strong correlation of downregulated genes related to synaptic transmission and mitochondria in post-mortem autism cerebral cortex.Journal of neurodevelopmental disorders · 2018Article
- Haplotype Sharing Provides Insights into Fine-Scale Population History and Disease in Finland.American journal of human genetics · 2018Article
Corrections and comments
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Authors and funding
15 authors at 6 institutions in 1 country.
Funding
Abstract
Intellectual disability (ID), often attributed to autosomal-recessive mutations, occurs in 40% of autism spectrum disorders (ASDs). For this reason, we conducted a genome-wide analysis of runs of homozygosity (ROH) in simplex ASD-affected families consisting of a proband diagnosed with ASD and at least one unaffected sibling. In these families, probands with an IQ ≤ 70 show more ROH than their unaffected siblings, whereas probands with an IQ > 70 do not show this excess. Although ASD is far more common in males than in females, the proportion of females increases with decreasing IQ. Our data do support an association between ROH burden and autism diagnosis in girls; however, we are not able to show that this effect is independent of low IQ. We have also discovered several autism candidate genes on the basis of finding (1) a single gene that is within an ROH interval and that is recurrent in autism or (2) a gene that is within an autism ROH block and that harbors a homozygous, rare deleterious variant upon analysis of exome-sequencing data. In summary, our data suggest a distinct genetic architecture for participants with autism and co-occurring intellectual disability and that this architecture could involve a role for recessively inherited loci for this autism subgroup.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.