A Higher Mutational Burden in Females Supports a “Female Protective Model” in Neurodevelopmental Disorders

2014/02/27 by Sébastien Jacquemont, Bradley P. Coe, Bradley P. Coe +11 · 27 citations
Biochemistry, Genetics and Molecular Biology · Neuroscience · #Genomic variations and chromosomal abnormalities #Autism Spectrum Disorder Research #Genetics and Neurodevelopmental Disorders

paper · pdf · doi:10.1016/j.ajhg.2014.02.001

Cited by

• The microbiota-gut-brain axis as a key regulator of neural function and the stress response: Implications for human and animal health1,2
• Advancing Risk Gene Discovery Across the Allele Frequency Spectrum
• A starring role for microglia in brain sex differences. [europepmc]
• Refining analyses of copy number variation identifies specific genes associated with developmental delay. [europepmc]
• Synaptic, transcriptional and chromatin genes disrupted in autism. [europepmc]
• Large-scale discovery of novel genetic causes of developmental disorders. [europepmc]
• Excess of rare, inherited truncating mutations in autism. [europepmc]
• Copy number variations and cognitive phenotypes in unselected populations. [europepmc]
• Early sex differences are not autism-specific: A Baby Siblings Research Consortium (BSRC) study. [europepmc]
• Sex and gender differences in autism spectrum disorder: summarizing evidence gaps and identifying emerging areas of priority. [europepmc]
• Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci. [europepmc]
• Estrogens Suppress a Behavioral Phenotype in Zebrafish Mutants of the Autism Risk Gene, CNTNAP2. [europepmc]
• Prevalence and architecture of de novo mutations in developmental disorders. [europepmc]
• An Overview of Autism Spectrum Disorder, Heterogeneity and Treatment Options. [europepmc]
• Genomic Patterns of De Novo Mutation in Simplex Autism. [europepmc]
• What About the Girls? Sex-Based Differences in Autistic Traits and Adaptive Skills. [europepmc]
• A Genetic Investigation of Sex Bias in the Prevalence of Attention-Deficit/Hyperactivity Disorder. [europepmc]
• Sex Differences in Autism Spectrum Disorder: a Review. [europepmc]
• Sex Differences in the Adult Human Brain: Evidence from 5216 UK Biobank Participants. [europepmc]
• Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants. [europepmc]
• Foetal oestrogens and autism. [europepmc]
• Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes. [europepmc]
• Genetic Causes and Modifiers of Autism Spectrum Disorder. [europepmc]
• Autism spectrum disorder and attention deficit hyperactivity disorder have a similar burden of rare protein-truncating variants. [europepmc]
• Genomics, convergent neuroscience and progress in understanding autism spectrum disorder. [europepmc]
• A phenotypic spectrum of autism is attributable to the combined effects of rare variants, polygenic risk and sex. [europepmc]
• Incomplete Penetrance and Variable Expressivity: From Clinical Studies to Population Cohorts. [europepmc]