ReviewScience (New York, N.Y.)2013
Somatic mutation, genomic variation, and neurological disease.
Review in Science (New York, N.Y.), 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 309 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
The trial behind it
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
309 citing papers in PubMed, 1 synthesis or guideline pooled it, 603 citations in OpenAlex.
- New techniques to identify the tissue of origin for cancer of unknown primary in the era of precision medicine: progress and challenges.Briefings in bioinformatics · 2024Pooled it
- Second-hit mosaic mutation in mTORC1 repressor DEPDC5 causes focal cortical dysplasia-associated epilepsy.The Journal of clinical investigation · 2018Trial
- Article
- Somatic mutations link focal onset to widespread neurodegeneration in ALS and FTD.Nature genetics · 2026Article
- Clinical relevance of mosaic variants detected by exome sequencing.The Journal of allergy and clinical immunology · 2026Article
- Radiogenomics of congenital brain malformations: Linking embryology, genetics, and imaging.Neuroradiology · 2026Review
- Cytomegalovirus-encoded immediate early 1 protein perturbs neural progenitor proliferation via interfering with host PML-DISC1 interaction.The Journal of biological chemistry · 2026Article
- Acute Toxicity and Genotoxicity of cMoL, a Lectin From Moringa oleifera Seeds With Antifungal Activity Against Cryptococcus Strains.Journal of applied toxicology : JAT · 2026Article
- Altered genome induced immune response of iPSCs.Frontiers in immunology · 2026Article
- From natural theology to the extended synthesis: Historical milestones and conceptual expansions in evolutionary biology.Genetics and molecular biology · 2026Article
- The impact of deep learning and omics data in transforming precision therapy for brain cancer.Frontiers in bioinformatics · 2026Review
- Primary cilia as a molecular convergence hub linking neurodevelopment and autism spectrum disorder.Frontiers in cellular neuroscience · 2026Review
- Early death and neuronal abnormalities inbioRxiv : the preprint server for biology · 2025Article
- Somatic Mosaicism Patterns Define Clinical-Surgical Subtypes of Focal Cortical Dysplasia Through Cell-Type-Specific Expression.medRxiv : the preprint server for health sciences · 2025Article
- DISC1-PML protein interaction for congenital CMV infection-induced cortical neural progenitor deficit: perturbance of host signaling via viral IE1.bioRxiv : the preprint server for biology · 2025Article
- Probability and Neurodegeneration: Alzheimer's Disease and Huntington's Disease.Brain sciences · 2025Article
- An opportune time for targeted brain arteriovenous malformation therapy.Journal of neurosurgery · 2025Article
- Early developmental origins of cortical disorders modeled in human neural stem cells.Nature communications · 2025Article
- The Role of Somatic Mutation in Hereditary Hemorrhagic Telangiectasia Pathogenesis.Journal of clinical medicine · 2025Review
- Mosaic X-linked adrenoleukodystrophy in males identified by newborn screening and next-generation sequencing.NPJ genomic medicine · 2025Article
249 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 2 institutions in 1 country.
Funding
Abstract
Genetic mutations causing human disease are conventionally thought to be inherited through the germ line from one's parents and present in all somatic (body) cells, except for most cancer mutations, which arise somatically. Increasingly, somatic mutations are being identified in diseases other than cancer, including neurodevelopmental diseases. Somatic mutations can arise during the course of prenatal brain development and cause neurological disease-even when present at low levels of mosaicism, for example-resulting in brain malformations associated with epilepsy and intellectual disability. Novel, highly sensitive technologies will allow more accurate evaluation of somatic mutations in neurodevelopmental disorders and during normal brain development.
Indexed as
Identifiers
What OpenQuestion holds
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.