ArticleHuman genetics2015
Using extended pedigrees to identify novel autism spectrum disorder (ASD) candidate genes.
Article in Human genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 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
12 citing papers in PubMed, 25 citations in OpenAlex.
- Amplifications of EVX2 and HOXD9-HOXD13 on 2q31 in mature cystic teratomas of the ovary identified by array comparative genomic hybridization may explain teratoma characteristics in chondrogenesis and osteogenesis.Journal of ovarian research · 2024Article
- Using induced pluripotent stem cells to investigate human neuronal phenotypes in 1q21.1 deletion and duplication syndrome.Molecular psychiatry · 2022Article
- Integrative Functional Genomic Analysis in Multiplex Autism Families from Kazakhstan.Disease markers · 2022Article
- A Role for Gene-Environment Interactions in Autism Spectrum Disorder Is Supported by Variants in Genes Regulating the Effects of Exposure to Xenobiotics.Frontiers in neuroscience · 2022Article
- Tracing Autism Traits in Large Multiplex Families to Identify Endophenotypes of the Broader Autism Phenotype.International journal of molecular sciences · 2020Article
- Mitochondria, Metabolism, and Redox Mechanisms in Psychiatric Disorders.Antioxidants & redox signaling · 2019Review
- Rare copy number variations affecting the synaptic gene DMXL2 in neurodevelopmental disorders.Journal of neurodevelopmental disorders · 2019Article
- A case-control genome-wide association study of ADHD discovers a novel association with the tenascin R (TNR) gene.Translational psychiatry · 2018Article
- A genome-wide linkage study of autism spectrum disorder and the broad autism phenotype in extended pedigrees.Journal of neurodevelopmental disorders · 2018Article
- Cancer- and behavior-related genes are targeted by selection in the Tasmanian devil (Sarcophilus harrisii).PloS one · 2018Article
- Gene-wide Association Study Reveals RNF122 Ubiquitin Ligase as a Novel Susceptibility Gene for Attention Deficit Hyperactivity Disorder.Scientific reports · 2017Article
- Merging data from genetic and epigenetic approaches to better understand autistic spectrum disorder.Epigenomics · 2016Article
Corrections and comments
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Authors and funding
24 authors at 9 institutions in 3 countries.
Funding
Abstract
Copy number variation has emerged as an important cause of phenotypic variation, particularly in relation to some complex disorders. Autism spectrum disorder (ASD) is one such disorder, in which evidence is emerging for an etiological role for some rare penetrant de novo and rare inherited copy number variants (CNVs). De novo variation, however, does not always explain the familial nature of ASD, leaving a gap in our knowledge concerning the heritable genetic causes of this disorder. Extended pedigrees, in which several members have ASD, provide an opportunity to investigate inherited genetic risk factors. In this current study, we recruited 19 extended ASD pedigrees, and, using the Illumina HumanOmni2.5 BeadChip, conducted genome-wide CNV interrogation. We found no definitive evidence of an etiological role for segregating CNVs in these pedigrees, and no evidence that linkage signals in these pedigrees are explained by segregating CNVs. However, a small number of putative de novo variants were transmitted from BAP parents to their ASD offspring, and evidence emerged for a rare duplication CNV at 11p13.3 harboring two putative 'developmental/neuropsychiatric' susceptibility gene(s), GSTP1 and NDUFV1.
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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.