ArticleNature communications2019
Paternal-age-related de novo mutations and risk for five disorders.
Article in Nature communications, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 50 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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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
50 citing papers in PubMed, 1 synthesis or guideline pooled it, 94 citations in OpenAlex.
- Effect of paternal age on offspring birth defects: a systematic review and meta-analysis.Aging · 2020Pooled it
- Article
- Parental age and its influence on functional dependency and cognitive decline in older adults: a cohort analysis.Journal of health, population, and nutrition · 2026Article
- Conserved shifts in sperm small non-coding RNA profiles during mouse and human aging.The EMBO journal · 2026Article
- Broad autism phenotype and parental personality in parents of preschoolers with autism: associations with social and behavioral profile.Frontiers in child and adolescent psychiatry · 2026Article
- De novo variant analysis of childhood-onset obsessive-compulsive disorder in the French-Canadian population.Translational psychiatry · 2025Article
- Perinatal insult dimensions and developmental trajectories of psychotic-like experiences.Schizophrenia (Heidelberg, Germany) · 2025Article
- The DCIDE framework: systematic investigation of evolutionary hypotheses, exemplified with autism.Biological reviews of the Cambridge Philosophical Society · 2025Review
- Paternal age, de novo mutation, and age at onset among co-affected schizophrenia sib-pairs: whole-genome sequencing in multiplex families.Molecular psychiatry · 2025Article
- Identification of intragenic variants in pediatric patients with intellectual disability in Peru.BMC medical genomics · 2025Article
- Socio-medical factors associated with neurodevelopmental disorders on the Kenyan coast.PLOS global public health · 2025Article
- Epigenetic aging of semen is associated with inflammation.Epigenetics · 2024Article
- Perinatal Hypoxia and Immune System Activation in Schizophrenia Pathogenesis: Critical Considerations During COVID-19 Pandemic.Physiological research · 2024Review
- De novo variants underlying monogenic syndromes with intellectual disability in a neurodevelopmental cohort from India.European journal of human genetics : EJHG · 2024Article
- Sociodemographic Trends and Perinatal Outcomes in Fathers 50 Years and Older.JAMA network open · 2024Article
- Case Report of Suspected Gonadal Mosaicism inInternational journal of molecular sciences · 2024Article
- [Sperm Mosaic Variants and Their Influence on the Offspring].Sichuan da xue xue bao. Yi xue ban = Journal of Sichuan University. Medical science edition · 2024Review
- Frequency, morbidity and equity - the case for increased research on male fertility.Nature reviews. Urology · 2024Review
- Parental age effects and Rett syndrome.American journal of medical genetics. Part A · 2024Article
- Investigating the impact of paternal aging on murine sperm miRNA profiles and their potential link to autism spectrum disorder.Scientific reports · 2023Article
Corrections and comments
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Authors and funding
20 authors at 6 institutions in 5 countries.
Funding
Abstract
There are established associations between advanced paternal age and offspring risk for psychiatric and developmental disorders. These are commonly attributed to genetic mutations, especially de novo single nucleotide variants (dnSNVs), that accumulate with increasing paternal age. However, the actual magnitude of risk from such mutations in the male germline is unknown. Quantifying this risk would clarify the clinical significance of delayed paternity. Using parent-child trio whole-exome-sequencing data, we estimate the relationship between paternal-age-related dnSNVs and risk for five disorders: autism spectrum disorder (ASD), congenital heart disease, neurodevelopmental disorders with epilepsy, intellectual disability and schizophrenia (SCZ). Using Danish registry data, we investigate whether epidemiologic associations between each disorder and older fatherhood are consistent with the estimated role of dnSNVs. We find that paternal-age-related dnSNVs confer a small amount of risk for these disorders. For ASD and SCZ, epidemiologic associations with delayed paternity reflect factors that may not increase with age.
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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.