Alexandra J. Scott

The paper develops and characterizes semi-immortalized Schwann cell lines from NF1-associated cutaneous neurofibromas to aid in studying and developing therapies for NF1.

The paper provides an integrated genomic analysis of NF1-associated peripheral nerve sheath tumors using RNAseq and WES data from 73 and 114 samples, respectively, accessible via the NF Data Portal.

The paper identifies structural variants as a major source of gene expression differences, showing they affect multiple genes and have broader expression effects than SNVs or indels.

This study identifies 31 genome-wide significant associations between structural variations and cardiometabolic traits in Finns, including two novel loci with strong phenotypic effects.

Integrating expression, allelic expression and splicing across tissues identifies rare variants with relevance to traits.

The paper develops S-PrediXcan to compute gene expression associations from GWAS summary data and applies it to 44 GTEx tissues and 100+ phenotypes, finding tissue-specific effects and colocalized associations.

The paper identifies rare variants contributing to extreme gene expression changes across tissues and introduces RIVER, a Bayesian method to prioritize functional variants.