Daniel J. Weiner

Functional consequences of genetic risk for neuropsychiatric conditions at chr22q

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

Polygenic architecture of rare coding variation across 400,000 exomes

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.

Combining SNP-to-gene linking strategies to pinpoint disease genes and assess disease omnigenicity

The paper develops a combined SNP-to-gene linking strategy (cS2G) to improve the identification of disease-causing genes and assess disease omnigenicity using GWAS data.

The female protective effect against autism spectrum disorder

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.

Partitioning gene-mediated disease heritability without eQTLs

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.

Paternal-age-related de novo mutations and risk for five disorders

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

Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders

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.