ReviewNature reviews. Genetics2012
De novo mutations in human genetic disease.
Review in Nature reviews. Genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 454 papers, 3 of them syntheses 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.
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
454 citing papers in PubMed, 3 syntheses or guidelines pooled it, 874 citations in OpenAlex.
- Meta-analysis of 46,000 germline de novo mutations linked to human inherited disease.Human genomics · 2024Pooled it
- Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traits.Genome medicine · 2022Pooled it
- Genetic diagnosis in first or second trimester pregnancy loss using exome sequencing: a systematic review of human essential genes.Journal of assisted reproduction and genetics · 2019Pooled it
- A De Novo heterozygous frameshift mutation identified in BCL11B causes neurodevelopmental disorder by whole exome sequencing.Molecular genetics & genomic medicine · 2019Trial
- Medical progress, relaxed natural selection, and adolescent obesity: implications for global health.Future science OA · 2026Article
- Precision Medicine in Epilepsy: Diagnostic Yield by Next-Generation Sequencing and Genotype-Phenotype Findings in a Romanian Cohort.International journal of molecular sciences · 2026Article
- Evaluating concordance of preimplantation genetic testing-whole-genome sequencing with genetic findings in live-born children.F&S reports · 2026Article
- Large-scale whole-genome sequencing reveals the landscape and health implications of de novo mutations.Nature medicine · 2026Article
- Expanded carrier screening in China: a focused narrative review and conceptual implementation framework.European journal of human genetics : EJHG · 2026Review
- The rate and spectrum of germline mutations in chicken from a commercial pedigree line.Genetics, selection, evolution : GSE · 2026Article
- EstimatingbioRxiv : the preprint server for biology · 2026Article
- Landscape of parental postzygotic mutations across >11,000 rare disease trios.American journal of human genetics · 2026Article
- AI-driven neoantigen identification: a comprehensive review from somatic variant calling to T cell recognition.Journal of translational medicine · 2026Review
- DeNovoSeer:a deep learning framework for pathogenicity prediction of De novo mutations.Briefings in bioinformatics · 2026Article
- Article
- Effect of methylation on genome mutability in cattle.Genetics, selection, evolution : GSE · 2026Article
- AVITI sequencing of a four-generation CEPH/Utah pedigree confirms low mutation rates at homopolymer loci despite their low sequence complexity.Genome biology · 2026Article
- The influence of genetic factors on education health and care plan obtainment for pupils with intellectual developmental disabilities.Scientific reports · 2026Article
- Tissue-specific differences of gene expression variance in mutation accumulation lines of mice.Heredity · 2026Article
- Pathological Insights into Neurodegenerative and Neurodevelopmental Disorders: Perspectives for the Development of Novel Treatment Approaches.CNS & neurological disorders drug targets · 2026Review
394 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
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
New mutations have long been known to cause genetic disease, but their true contribution to the disease burden can only now be determined using family-based whole-genome or whole-exome sequencing approaches. In this Review we discuss recent findings suggesting that de novo mutations play a prominent part in rare and common forms of neurodevelopmental diseases, including intellectual disability, autism and schizophrenia. De novo mutations provide a mechanism by which early-onset reproductively lethal diseases remain frequent in the population. These mutations, although individually rare, may capture a significant part of the heritability for complex genetic diseases that is not detectable by genome-wide association studies.
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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.