ReviewNature neuroscience2014
Prioritization of neurodevelopmental disease genes by discovery of new mutations.
Review in Nature neuroscience, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 89 papers.
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
89 citing papers in PubMed, 157 citations in OpenAlex.
- A founder population reveals genetic variation with major effect on serious mental illness.medRxiv : the preprint server for health sciences · 2026Article
- A transient sex-biased transcriptional program shapes early postnatal L2/3 neuron development.Biology of sex differences · 2026Article
- Before hormones: early sex-specific mechanisms shaping nervous system development, function, and postnatal disease susceptibility.Frontiers in behavioral neuroscience · 2026Review
- A Novel Ubiquitin Ligase Adaptor PTPRN Suppresses Seizure Susceptibility through Endocytosis of NaAdvanced science (Weinheim, Baden-Wurttemberg, Germany) · 2024Article
- Inversed Effects of Nav1.2 Deficiency at Medial Prefrontal Cortex and Ventral Tegmental Area for Prepulse Inhibition in Acoustic Startle Response.Molecular neurobiology · 2024Article
- A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.American journal of human genetics · 2024Article
- SVhawkeye: an ultra-fast software for user-friendly visualization of targeted structural fragments from BAM files.Frontiers in genetics · 2024Article
- Article
- Differential DNA Methylation from Autistic Children Enriches Evidence for Genes Associated with ASD and New Candidate Genes.Brain sciences · 2023Article
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- Cancer-driving mutations are enriched in genic regions intolerant to germline variation.Science advances · 2022Article
- Comparison of actionable events detected in cancer genomes by whole-genome sequencing, in silico whole-exome and mutation panels.ESMO open · 2022Article
- Deficiency of autism-related Scn2a gene in mice disrupts sleep patterns and circadian rhythms.Neurobiology of disease · 2022Article
- Article
- Severe deficiency of the voltage-gated sodium channel NaCell reports · 2021Article
- Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.Molecular neurobiology · 2021Article
- SETBP1 accumulation induces P53 inhibition and genotoxic stress in neural progenitors underlying neurodegeneration in Schinzel-Giedion syndrome.Nature communications · 2021Article
- Molecular causes of sex-specific deficits in rodent models of neurodevelopmental disorders.Journal of neuroscience research · 2021Review
- Developmental Characterization of Schizophrenia-Associated Gene Zswim6 in Mouse Forebrain.Frontiers in neuroanatomy · 2021Article
- De novo mutation of cancer-related genes associates with particular neurodevelopmental disorders.Journal of molecular medicine (Berlin, Germany) · 2020Article
29 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
3 authors at 2 institutions in 2 countries.
Funding
Abstract
Advances in genome sequencing technologies have begun to revolutionize neurogenetics, allowing the full spectrum of genetic variation to be better understood in relation to disease. Exome sequencing of hundreds to thousands of samples from patients with autism spectrum disorder, intellectual disability, epilepsy and schizophrenia provides strong evidence of the importance of de novo and gene-disruptive events. There are now several hundred new candidate genes and targeted resequencing technologies that allow screening of dozens of genes in tens of thousands of individuals with high specificity and sensitivity. The decision of which genes to pursue depends on many factors, including recurrence, previous evidence of overlap with pathogenic copy number variants, the position of the mutation in the protein, the mutational burden among healthy individuals and membership of the candidate gene in disease-implicated protein networks. We discuss these emerging criteria for gene prioritization and the potential impact on the field of neuroscience.
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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.