ArticleNature genetics2019
Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity.
Article in Nature genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 201 papers, 1 of them a synthesis that pooled it.
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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Who cites it
201 citing papers in PubMed, 1 synthesis or guideline pooled it, 365 citations in OpenAlex.
- Rare coding variation provides insight into the genetic architecture and phenotypic context of autism.Nature genetics · 2022Pooled it
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- Comprehensive evaluation of structural variation detection for germline and somatic analysis with long-read sequencing data.Briefings in bioinformatics · 2026Article
- Diagnostic Yield of Whole Exome Sequencing in Autism Spectrum Disorder Patients at a Tertiary Center in Saudi Arabia.Journal of autism and developmental disorders · 2026Article
- Genomic landscape of rare variants in a Chinese autism cohort and discovery of novel risk genes.Molecular psychiatry · 2026Article
- Development and Validation of a Cross-Dimensional Screening Protocol for Remote Phenotyping Applied to Individuals With 3q29 Deletion Syndrome.Journal of intellectual disability research : JIDR · 2026Article
- Maternal Cardiovascular Health During Pregnancy and Offspring Developmental Delay.JAMA network open · 2026Article
- Personalized Treatment in Rare Genetic Syndromes: A Case-Report in Witteveen-Kolk Syndrome (SIN3A).Molecular syndromology · 2026Article
- RNArchitects: how hnRNPs shape neuronal landscapes.Brain : a journal of neurology · 2026Review
- MeCP2 gene dosage-dependent neurodevelopmentally restricted defects arise by aberrant activation of cell fate-determining bivalent genes.Nature communications · 2026Article
- Linking rare variants to cell-type function in profound autism with brain transcriptomics and foundation models.Cell genomics · 2026Review
- Shared and distinct phenotypic profiles among neurodevelopmental disorder genes.medRxiv : the preprint server for health sciences · 2026Article
- Article
- Multi-omics Differential Inference for Functional Interpretation (MoDIFI): A Statistical Framework to Prioritize Cell Lines for Neurodevelopmental Variants.bioRxiv : the preprint server for biology · 2026Article
- Using the linear references from the pangenome to discover missing autism variants.Nature communications · 2026Article
- Longitudinal Characterization of GiantResearch (Washington, D.C.) · 2026Article
- Deciphering gene redundancy in prokaryotic genomes provides evolutionary insights for pathogenicity and its roles in clinical infections.Nature communications · 2025Article
- A fused deep learning approach to transform drug repositioning.Communications chemistry · 2025Article
- Large-scale discovery of neural enhancers for cis-regulation therapies.bioRxiv : the preprint server for biology · 2025Article
141 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
11 authors at 6 institutions in 1 country.
Funding
Abstract
We combined de novo mutation (DNM) data from 10,927 individuals with developmental delay and autism to identify 253 candidate neurodevelopmental disease genes with an excess of missense and/or likely gene-disruptive (LGD) mutations. Of these genes, 124 reach exome-wide significance (P < 5 × 10
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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.