ArticleBiological psychiatry2008
Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder.
Article in Biological psychiatry, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 145 papers, 2 of them syntheses that pooled it.
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Who cites it
145 citing papers in PubMed, 2 syntheses or guidelines pooled it, 299 citations in OpenAlex.
- Glutamatergic candidate genes in autism spectrum disorder: an overview.Journal of neural transmission (Vienna, Austria : 1996) · 2014Pooled it
- Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities.Genetics in medicine : official journal of the American College of Medical Genetics · 2010Guideline
- Brain-Derived Neurotrophic Factor Trafficking via the Regulated Secretory Pathway: Mechanisms and Disease Implications.Molecular neurobiology · 2025Review
- Integrating genetic and transcriptomic data to identify genes underlying obesity risk loci.International journal of obesity (2005) · 2025Article
- Epigenetic Insights into Autism Spectrum Disorder: DNA Methylation Levels ofClinical psychopharmacology and neuroscience : the official scientific journal of the Korean College of Neuropsychopharmacology · 2024Article
- A cohort study of neurodevelopmental disorders and/or congenital anomalies using high resolution chromosomal microarrays in southern Brazil highlighting the significance of ASD.Scientific reports · 2024Article
- Regional and cellular organization of the autism-associated protein UBE3A/E6AP and its antisense transcript in the brain of the developing rhesus monkey.Frontiers in neuroanatomy · 2024Article
- The genetic landscape of autism spectrum disorder in the Middle Eastern population.Frontiers in genetics · 2024Article
- Genetic diagnostic yields of 354 Chinese ASD children with rare mutations by a pipeline of genomic tests.Frontiers in genetics · 2023Article
- Combining Z-Score and Maternal Copy Number Variation Analysis Increases the Positive Rate and Accuracy in Non-Invasive Prenatal Testing.Frontiers in genetics · 2022Article
- CAPS2 Deficiency Impairs the Release of the Social Peptide Oxytocin, as Well as Oxytocin-Associated Social Behavior.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2021Article
- Signaling Pathways and Sex Differential Processes in Autism Spectrum Disorder.Frontiers in psychiatry · 2021Review
- Modeling and Predicting Developmental Trajectories of Neuropsychiatric Dimensions Associated With Copy Number Variations.The international journal of neuropsychopharmacology · 2019Review
- Identifying Genomic Variations in Monozygotic Twins Discordant for Autism Spectrum Disorder Using Whole-Genome Sequencing.Molecular therapy. Nucleic acids · 2019Article
- The α5-Containing GABAJournal of molecular neuroscience : MN · 2019Review
- Sensory Abnormalities in Autism Spectrum Disorders: A Focus on the Tactile Domain, From Genetic Mouse Models to the Clinic.Frontiers in psychiatry · 2019Review
- Genomic Copy Number Variations in the Autism Clinic-Work in Progress.Frontiers in cellular neuroscience · 2019Review
- Gender Differences During Toddlerhood in Autism Spectrum Disorder: A Prospective Community-Based Longitudinal Follow-Up Study.Journal of autism and developmental disorders · 2018Article
- Chemogenetic Activation of Prefrontal Cortex Rescues Synaptic and Behavioral Deficits in a Mouse Model of 16p11.2 Deletion Syndrome.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2018Article
- Expression profiling of disease progression in canine model of Duchenne muscular dystrophy.PloS one · 2018Article
85 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
17 authors at 6 institutions in 1 country.
Funding
Abstract
backgroundOne genetic mechanism known to be associated with autism spectrum disorders (ASD) is chromosomal abnormalities. The identification of copy number variants (CNV), i.e., microdeletions and microduplications that are undetectable at the level of traditional cytogenetic analysis, allows the potential association of submicroscopic chromosomal imbalances and human disease.
methodsWe performed array comparative genomic hybridization (aCGH) utilizing a 19K whole genome tiling path bacterial artificial chromosome (BAC) microarray on 397 unrelated subjects with autism spectrum disorder. Common CNV were excluded using a control group comprised of 372 individuals from the National Institute of Mental Health (NIMH) Genetics Initiative Control samples. Confirmation studies were performed on all remaining CNV using fluorescence in situ hybridization (FISH), microsatellite analysis, and/or quantitative polymerase chain reaction (PCR) analysis.
resultsA total of 51 CNV were confirmed in 46 ASD subjects. Three maternal interstitial duplications of 15q11-q13 known to be associated with ASD were identified. The other 48 CNV ranged in size from 189 kilobase (kb) to 5.5 megabase (Mb) and contained from 0 to approximately 40 National Center for Biotechnology Information (NCBI) Reference Sequence (RefSeq) genes. Seven CNV were de novo and 44 were inherited.
conclusionsFifty-one autism-specific CNV were identified in 46 of 397 ASD patients using a 19K BAC microarray for an overall rate of 11.6%. These microdeletions and microduplications cause gene dosage imbalance in 272 genes, many of which could be considered as candidate genes for autism.
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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.