Elise Robinson

The paper compares the phenotypic and genetic structures of psychiatric symptoms in autistic and non-autistic children, finding differences in factor structures and genetic associations.

The paper estimates the contribution of de novo coding mutations to autism using data from 38,680 trios, finding they explain 3.4% of autism variance.

The paper identifies 253 autism-associated genes using rare variation from 62,429 individuals and finds pleiotropy across physiological systems and developmental disorders.

The paper presents genetic and phenotypic data from 521 children with neurodevelopmental disorders in Kenya and South Africa, highlighting high genetic diagnosis rates linked to environmental risk factors.

This paper constructs phenome-derived polygenic scores and evaluates how they, along with social determinants of health, influence disease risk across different populations and diseases.

The paper identifies chr22q as a regulatory hub where genetic risk for neuropsychiatric conditions is associated with coordinated gene expression downregulation in brain tissue.

The paper introduces TRADE, a statistical framework to detect transcriptome-wide differential expression effects from noisy Perturb-seq data, showing that many true effects are not statistically significant but detectable in aggregate.

The paper identifies five genomic factors explaining most genetic variance across 14 psychiatric disorders and finds shared and disorder-specific genetic signals with distinct biological functions.

This paper conducts a genome-wide association meta-analysis of age at onset of walking, identifying 11 loci and showing genetic correlations with ADHD, BMI, intelligence, and brain structure.

The paper presents phenotype and genetic analysis of 206 children with neurodevelopmental disorders from Kenya and South Africa, identifying pathogenic variants in 17% of South African and 38% of Kenyan cases.

The paper quantifies the heritability explained by rare coding variants and compares it to common variants across 22 traits using 400,000 UK Biobank exomes, finding rare variants explain less phenotypic variance but are more concentrated in constrained genes.

This study shows that autism spectrum disorder risk is influenced by rare variants, polygenic risk, and sex, with sex-specific effects on genetic liability and behavioral traits.

This study identifies genetic correlates of phenotypic heterogeneity in autism by analyzing common and de novo variants across core features and co-occurring disabilities.

The paper investigates the female protective effect against autism spectrum disorder by analyzing genetic risk in siblings and parents of ASD cases, finding evidence of sex differences in inherited genetic risk.

The paper estimates the fraction of disease heritability mediated by genes linked to SNPs without using eQTLs, finding that the closest gene mediates 27% of heritability and some genes outside the top ten also contribute significantly.

The paper investigates genetic links between cognitive abilities and psychiatric disorders using GWAS on 335,227 individuals, finding 25 novel loci and variable genetic correlations across cognitive tasks and disorders.

The paper investigates genetic risk for psychosis spectrum symptoms in youth, finding a significant link with ADHD polygenic scores and age-specific effects.

The paper examines sex-differentiated genetic effects across neuropsychiatric and behavioral traits using GWAS summary statistics and finds small, polygenic sex differences with enriched neuron-related genes.

This study uses in vivo Perturb-Seq to analyze the effects of 35 autism risk genes on neuronal and glial cells in the developing brain.

The paper estimates the risk of five disorders from paternal-age-related de novo mutations using whole-exome-sequencing data and Danish registry data.

This study identifies five genome-wide significant loci and seven shared with other traits in a large ASD GWAS, highlighting polygenic heterogeneity and the value of large-scale GWAS in ASD.

The paper investigates polygenic associations between ADHD and literacy/language abilities, finding that genetic confounding with educational attainment masks ADHD-specific reading impairments.

Genome-wide association meta-analysis of 20,183 ADHD cases and 35,191 controls finds 12 significant loci; signal concentrates in conserved regions, constrained genes, and CNS regulatory elements.

The paper investigates the genetic burden of rare protein-truncating variants in ASD and ADHD, finding similar patterns of enrichment.

This study investigates genetic mechanisms underlying sex bias in ADHD prevalence using genome-wide data and finds no mean polygenic burden difference across sexes but increased risk in female siblings and comorbid conditions.

The paper develops a paralog conservation score to identify disease-associated genes and shows that disease variants are enriched at conserved sites across gene families.

The paper uses polygenic transmission disequilibrium to show common and rare variants act additively in autism risk, with polygenic risk over-transmitted to ASD cases but not unaffected siblings.

The paper shows that many de novo protein truncating variants in neurodevelopmental disorders are common in population cohorts and do not contribute to risk, using data from 9246 families and 60,706 adults.

The paper investigates the association between schizophrenia genetic risk and cognitive performance in healthy individuals, finding a link with current cognitive abilities but not with premorbid intelligence or education.

The paper estimates genetic correlations between 25 traits using GWAS summary statistics, identifying correlations like anorexia nervosa with schizophrenia and educational attainment with diseases.