Andrea Byrnes

Specificity and exon target space of splicing modifying compounds

This study investigates the specificity of splicing modulators by analyzing their interactions with RNA structures and demonstrates reprogramming of their specificity through genetic manipulation of the spliceosome.

Photoaffinity enabled transcriptome-wide identification of splice modulating small molecule-RNA binding events in native cells

The paper identifies RNA targets of splice modulating small molecules using photoaffinity labeling and validates binding sites with cellular SHAPE-MaP.

Ultra-rare constrained missense variants in the epilepsies: Shared and specific enrichment patterns in neuronal gene-sets

The paper analyzes ultra-rare variants in epilepsy patients to identify gene-set enrichment patterns and differential impacts in neuronal gene categories.

Human-specific enrichment of schizophrenia risk-genes in callosal neurons of the developing neocortex

The paper identifies human-specific enrichment of schizophrenia risk genes in callosal neurons of the developing neocortex using comparative transcriptomic analysis across species and developmental stages.

Enrichment of rare protein truncating variants in amyotrophic lateral sclerosis patients

The paper identifies an enrichment of rare protein-truncating variants in ALS patients, highlighting novel genes like DNAJC7 and known ALS genes such as SOD1, NEK1, and FUS.

Junction-skipping regulation in complex disease

The paper identifies genomic variants regulating junction-skipping using RNA-seq and GWAS data to understand their role in complex diseases.

Ultra-rare genetic variation in the epilepsies: a whole-exome sequencing study of 17,606 individuals

This study identifies ultra-rare genetic variants associated with different epilepsy types using whole-exome sequencing in 17,634 individuals.

Quantifying the impact of rare and ultra-rare coding variation across the phenotypic spectrum

The paper investigates the impact of rare protein truncating variants on 13 quantitative traits and 10 diseases using whole-exome sequencing data from 100,296 individuals, finding increased risk for several disorders and associations with other phenotypes.

Heritability enrichment of specifically expressed genes identifies disease-relevant tissues and cell types

The paper uses gene expression data and GWAS summary statistics to identify disease-relevant tissues and cell types by detecting heritability enrichments in gene-specific expression regions.

Heterogeneous Contribution of Microdeletions in the Development of Common Generalized and Focal epilepsies

This study examines the role of microdeletions in different epilepsy subtypes, finding enriched contributions in Genetic Generalized Epilepsy but not in Rolandic or Adult Focal Epilepsy.

Landscape of X chromosome inactivation across human tissues

This paper systematically surveys X chromosome inactivation across human tissues using transcriptomic and genomic data, finding that XCI is generally uniform but shows heterogeneity and identifies new escape genes with sex-biased expression.

Ultra-rare disruptive and damaging mutations influence educational attainment in the general population

This study finds that ultra-rare disruptive variants in highly constrained genes are associated with reduced educational attainment in the general population.