ReviewPediatric clinics of North America2015
Genomic variants and variations in malformations of cortical development.
Review in Pediatric clinics of North America, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
What it found
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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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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
21 citing papers in PubMed, 45 citations in OpenAlex.
- FTO-mediated mActa pharmaceutica Sinica. B · 2026Article
- Shared Disease Mechanisms in Neurodevelopmental Disorders: A Cellular and Molecular Biology Perspective.Brain sciences · 2025Review
- Early developmental origins of cortical disorders modeled in human neural stem cells.Nature communications · 2025Article
- Identification of Novel Mosaic Variants in Focal Epilepsy-Associated Patients' Brain Lesions.Genes · 2025Article
- Dandy-Walker Malformation in a Girl withMolecular syndromology · 2023Article
- Correlating Neuroimaging and CNVs Data: 7 Years of Cytogenomic Microarray Analysis on Patients Affected by Neurodevelopmental Disorders.Journal of pediatric genetics · 2021Article
- Roots of the Malformations of Cortical Development in the Cell Biology of Neural Progenitor Cells.Frontiers in neuroscience · 2021Review
- Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development.Neuron · 2020Article
- Constitutive activity of a G protein-coupled receptor, DRD1, contributes to human cerebral organoid formation.Stem cells (Dayton, Ohio) · 2020Article
- Kinesin-1-mediated axonal transport of CB1 receptors is required for cannabinoid-dependent axonal growth and guidance.Development (Cambridge, England) · 2020Article
- Ion Channel Functions in Early Brain Development.Trends in neurosciences · 2020Review
- More Than Mortar: Glia as Architects of Nervous System Development and Disease.Frontiers in cell and developmental biology · 2020Review
- A New Way to Treat Brain Tumors: Targeting Proteins Coded by Microcephaly Genes?: Brain tumors and microcephaly arise from opposing derangements regulating progenitor growth. Drivers of microcephaly could be attractive brain tumor targets.BioEssays : news and reviews in molecular, cellular and developmental biology · 2018Review
- Nervous System Malformations.Continuum (Minneapolis, Minn.) · 2018Review
- Article
- oRGs and mitotic somal translocation - a role in development and disease.Current opinion in neurobiology · 2017Review
- Germline and somatic mutations in cortical malformations: Molecular defects in Argentinean patients with neuronal migration disorders.PloS one · 2017Article
- Mutations in CRADD Result in Reduced Caspase-2-Mediated Neuronal Apoptosis and Cause Megalencephaly with a Rare Lissencephaly Variant.American journal of human genetics · 2016Article
- Loss of MUNC13-1 function causes microcephaly, cortical hyperexcitability, and fatal myasthenia.Neurology. Genetics · 2016Article
- Novel genetic tools facilitate the study of cortical neuron migration.Mammalian genome : official journal of the International Mammalian Genome Society · 2016Article
Corrections and comments
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Authors and funding
2 authors at 1 institution in 2 countries.
Funding
Abstract
Malformations of cortical development (MCDs) are a common cause of neurodevelopmental delay and epilepsy and are caused by disruptions in the normal development of the cerebral cortex. Several causative genes have been identified in patients with MCD. There is increasing evidence of role of de novo mutations, including those occurring post fertilization, in MCD. These somatic mutations may not be detectable by traditional methods of genetic testing performed on blood DNA. Identification of the genetic cause can help in guiding families in future pregnancies. Research has highlighted how elucidation of key molecular pathways can also allow for targeted therapeutic interventions.
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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.