ReviewJournal of neuroscience research2017
Unraveling the genetic architecture of copy number variants associated with schizophrenia and other neuropsychiatric disorders.
Review in Journal of neuroscience research, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 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
19 citing papers in PubMed, 43 citations in OpenAlex.
- A Paradigmatic Case of Genetic Overlap Between Neurodevelopment Disorders and Schizophrenia Aligning with the Neurodevelopmental Continuum Hypothesis.International journal of molecular sciences · 2025Article
- Developmental perspectives on the origins of psychotic disorders: The need for a transdiagnostic approach.Development and psychopathology · 2024Review
- Study of the genetic association between selected 3q29 region genes and schizophrenia and autism spectrum disorder in the Japanese population.Nagoya journal of medical science · 2024Article
- Rare CNVs and phenome-wide profiling highlight brain structural divergence and phenotypical convergence.Nature human behaviour · 2023Article
- Phenotype and genotype in a Taiwanese girl with Sotos Syndrome.BioMedicine · 2022Article
- Mitochondrial Proteostasis Requires Genes Encoded in a Neurodevelopmental Syndrome Locus.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2021Article
- Editorial overview: Rare CNV disorders and neuropsychiatric phenotypes: opportunities, challenges, solutions.Current opinion in genetics & development · 2021Article
- Chromosomal Microarray Analysis as First-Tier Genetic Test for Schizophrenia.Frontiers in genetics · 2021Article
- Translational medicine of the glutamate AMPA receptor.Proceedings of the Japan Academy. Series B, Physical and biological sciences · 2021Review
- A Link between Genetic Disorders and Cellular Impairment, Using Human Induced Pluripotent Stem Cells to Reveal the Functional Consequences of Copy Number Variations in the Central Nervous System-A Close Look at Chromosome 15.International journal of molecular sciences · 2020Review
- Molecular Variants in Human Trace Amine-Associated Receptors and Their Implications in Mental and Metabolic Disorders.Cellular and molecular neurobiology · 2020Review
- NCBP2 modulates neurodevelopmental defects of the 3q29 deletion in Drosophila and Xenopus laevis models.PLoS genetics · 2020Article
- Psychiatric-disorder-related behavioral phenotypes and cortical hyperactivity in a mouse model of 3q29 deletion syndrome.Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology · 2019Article
- Systems Analysis of the 22q11.2 Microdeletion Syndrome Converges on a Mitochondrial Interactome Necessary for Synapse Function and Behavior.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2019Article
- Endophenotypes in Schizophrenia: Digging Deeper to Identify Genetic Mechanisms.Journal of psychiatry and brain science · 2019Article
- Molecular Systems Biology of Neurodevelopmental Disorders, Rett Syndrome as an Archetype.Frontiers in integrative neuroscience · 2019Article
- A Schizophrenia-Linked KALRN Coding Variant Alters Neuron Morphology, Protein Function, and Transcript Stability.Biological psychiatry · 2018Article
- The association between gene variants and longitudinal structural brain changes in psychosis: a systematic review of longitudinal neuroimaging genetics studies.NPJ schizophrenia · 2017Review
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Corrections and comments
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
Abstract
Recent studies show that the complex genetic architecture of schizophrenia (SZ) is driven in part by polygenic components, or the cumulative effect of variants of small effect in many genes, as well as rare single-locus variants with large effect sizes. Here we discuss genetic aberrations known as copy number variants (CNVs), which fall in the latter category and are associated with a high risk for SZ and other neuropsychiatric disorders. We briefly review recurrent CNVs associated with SZ, and then highlight one CNV in particular, a recurrent 1.6-Mb deletion on chromosome 3q29, which is estimated to confer a 40-fold increased risk for SZ. Additionally, we describe the use of genetic mouse models, behavioral tools, and patient-derived induced pluripotent stem cells as a means to study CNVs in the hope of gaining mechanistic insight into their respective disorders. Taken together, the genomic data connecting CNVs with a multitude of human neuropsychiatric disease, our current technical ability to model such chromosomal anomalies in mouse, and the existence of precise behavioral measures of endophenotypes argue that the time is ripe for systematic dissection of the genetic mechanisms underlying such disease. © 2016 Wiley Periodicals, Inc.
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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.