ArticleMolecular psychiatry2015
Increased female autosomal burden of rare copy number variants in human populations and in autism families.
Article in Molecular psychiatry, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 39 papers.
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
39 citing papers in PubMed, 56 citations in OpenAlex.
- Preservation of Higher-Order Cognition in Autistic Females: Evidence from Two Deeply-Phenotyped Cohorts in Hong Kong and the United States.Research square · 2026Article
- Gene × sex interactions on cognition in the Philadelphia neurodevelopmental cohort.Biology of sex differences · 2026Article
- The inactive X chromosome as a female protector in autism and beyond.Nature genetics · 2026Review
- The inactive X chromosome as a female protector in autism and beyond.Research square · 2025Article
- Importance of copy number variants in childhood apraxia of speech and other speech sound disorders.Communications biology · 2024Article
- Polygenic scores stratify neurodevelopmental copy number variant carrier cognitive outcomes in the UK Biobank.NPJ genomic medicine · 2024Article
- Sex-biasing influence of autism-associatedScience advances · 2024Article
- Effects of paternal and chronological age onAging · 2023Article
- Review
- 3q29 microduplication syndrome: New evidence for the refinement of the critical region.Molecular genetics & genomic medicine · 2023Article
- Rare copy number variants in males and females with childhood attention-deficit/hyperactivity disorder.Molecular psychiatry · 2023Article
- Autism Spectrum Disorder May Be Highly Prevalent in People with Functional Neurological Disorders.Journal of clinical medicine · 2022Article
- A phenotypic spectrum of autism is attributable to the combined effects of rare variants, polygenic risk and sex.Nature genetics · 2022Article
- The Diagnosis and Management of Autism Spectrum Disorder (ASD) in Adult Females in the Presence or Absence of an Intellectual Disability.International journal of environmental research and public health · 2022Review
- Chromosomal microarray analysis of 410 Han Chinese patients with autism spectrum disorder or unexplained intellectual disability and developmental delay.NPJ genomic medicine · 2022Article
- Understanding the Role of the Gut Microbiome in Brain Development and Its Association With Neurodevelopmental Psychiatric Disorders.Frontiers in cell and developmental biology · 2022Review
- Molecular omics resources should require sex annotation: a call for action.Nature methods · 2021Article
- A profile and review of findings from the Early Markers for Autism study: unique contributions from a population-based case-control study in California.Molecular autism · 2021Review
- Contribution of Congenital Heart Disorders Associated With Copy Number Variants in Mediating Risk for Brain Developmental Disorders: Evidence From 20-Year Retrospective Cohort Study.Frontiers in cardiovascular medicine · 2021Article
- Evaluation of Chromosome Microarray Analysis in a Large Cohort of Females with Autism Spectrum Disorders: A Single Center Italian Study.Journal of personalized medicine · 2020Article
Corrections and comments
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Authors and funding
8 authors at 3 institutions in 1 country.
Funding
Abstract
Autosomal genetic variation is presumed equivalent in males and females and makes a major contribution to disease risk. We set out to identify whether maternal copy number variants (CNVs) contribute to autism spectrum disorders (ASDs). Surprisingly, we observed a higher autosomal burden of large, rare CNVs in females in the population, reflected in, but not unique to, ASD families. Meta-analysis across control data sets confirms female excess in CNV number (P=2.1 × 10(-5)) and gene content (P=4.1 × 10(-3)). We additionally observed CNV enrichment in ASD mothers compared with control mothers (P=0.03). We speculate that tolerance for CNV burden contributes to decreased female fetal loss in the population and that ASD-specific maternal CNV burden may contribute to high sibling recurrence. These data emphasize the need for study of familial CNV risk factors in ASDs and the requirement of sex-matched comparisons.
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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.