SynthesisGenome medicine2017
Copy number variation meta-analysis reveals a novel duplication at 9p24 associated with multiple neurodevelopmental disorders.
Synthesis in Genome medicine, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 40 papers, 1 of them a synthesis that pooled it.
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Who cites it
40 citing papers in PubMed, 1 synthesis or guideline pooled it, 61 citations in OpenAlex.
- Genetic risk factors for autism-spectrum disorders: a systematic review based on systematic reviews and meta-analysis.Journal of neural transmission (Vienna, Austria : 1996) · 2021Pooled it
- Computational strategies for copy number variation detection, disease association, and beyond.Genome biology · 2026Review
- Common cause versus dynamic mutualism: Insights into ADHD's common comorbidities.JCPP advances · 2026Article
- Diagnostic Yield of Chromosomal Microarray Analysis in a Cohort of 300 Indian Patients.Indian journal of pediatrics · 2026Article
- Integrating genetic regulation and schizophrenia-specific splicing quantitative expression with GWAS prioritizes novel risk genes for schizophrenia.Translational psychiatry · 2025Article
- Transcriptomic and epigenomic consequences of heterozygous loss-of-function mutations in AKAP11, a shared risk gene for bipolar disorder and schizophrenia.Molecular psychiatry · 2025Article
- Copy Number Variant Architecture of Child Psychopathology and Cognitive Development in the ABCD Study.The American journal of psychiatry · 2025Article
- Systematic benchmarking of tools for structural variation detection using short- and long-read sequencing data in pigs.iScience · 2025Article
- Insights from a methylome-wide association study of antidepressant exposure.Nature communications · 2025Article
- Copy number variations in the Brazilian High-Risk Cohort for Mental Conditions.Revista brasileira de psiquiatria (Sao Paulo, Brazil : 1999) · 2025Article
- Where does attention-deficit/hyperactivity disorder fit in the psychopathology hierarchy? A symptom-focused analysis.Journal of psychopathology and clinical science · 2024Article
- Genetic diversity and signatures of selection in Icelandic horses and Exmoor ponies.BMC genomics · 2024Article
- Mitochondrial DNA Haplogroup K Is Protective Against Autism Spectrum Disorder Risk in Populations of European Ancestry.Journal of the American Academy of Child and Adolescent Psychiatry · 2024Article
- A germline chimeric KANK1-DMRT1 transcript derived from a complex structural variant is associated with a congenital heart defect segregating across five generations.Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology · 2024Article
- A germline chimeric KANK1-DMRT1 transcript derived from a complex structural variant is associated with a congenital heart defect segregating across five generations.Research square · 2023Article
- Impact of Copy Number Variants and Polygenic Risk Scores on Psychopathology in the UK Biobank.Biological psychiatry · 2023Article
- Article
- Nexus between genome-wide copy number variations and autism spectrum disorder in Northeast Han Chinese population.BMC psychiatry · 2023Article
- A Potential Role for Neuroinflammation in ADHD.Advances in experimental medicine and biology · 2023Review
- An epigenetic association analysis of childhood trauma in psychosis reveals possible overlap with methylation changes associated with PTSD.Translational psychiatry · 2022Article
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Authors and funding
14 authors at 2 institutions in 2 countries.
Funding
Abstract
backgroundNeurodevelopmental and neuropsychiatric disorders represent a wide spectrum of heterogeneous yet inter-related disease conditions. The overlapping clinical presentations of these diseases suggest a shared genetic etiology. We aim to identify shared structural variants spanning the spectrum of five neuropsychiatric disorders.
methodsWe investigated copy number variations (CNVs) in five cohorts, including schizophrenia (SCZ), bipolar disease (BD), autism spectrum disorders (ASD), attention deficit hyperactivity disorder (ADHD), and depression, from 7849 cases and 10,799 controls. CNVs were called based on intensity data from genome-wide SNP arrays and CNV frequency was compared between cases and controls in each disease cohort separately. Meta-analysis was performed via a gene-based approach. Quantitative PCR (qPCR) was employed to validate novel significant loci.
resultsIn our meta-analysis, two genes containing CNVs with exonic overlap reached genome-wide significance threshold of meta P value < 9.4 × 10
conclusionsIn the first large scale meta-analysis of CNVs across multiple neurodevelopmental/psychiatric diseases, we uncovered novel significant associations of structural variants in the locus of DOCK8/KANK1 shared by five diseases, suggesting common etiology of these clinically distinct neurodevelopmental conditions.
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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.