Scott I. Adamson

LRP2 is a proteogenomics pipeline that integrates long-read RNA sequencing and mass spectrometry to detect novel protein isoforms and improve their translation inference.

This study investigates the effects of two common Atp1a3 mutations in mice, revealing distinct neurological phenotypes and potential therapeutic avenues for alternating hemiplegia of childhood.

The paper identifies splicing regulatory elements and their associated RNA binding proteins using ENCODE data and experimental assays, validating findings with CRISPR base editors and transcriptomic datasets.

This study shows that GTPBP1 resolves ribosome pausing caused by tRNA deficiency in the mouse brain, preventing neurodegeneration and highlighting the role of translational GTPases in neuronal homeostasis.

The paper develops a high-throughput method to assess how genetic variants affect pre-mRNA splicing efficiency across 110 alternative exons in humans.

SARNAclust identifies RNA motifs from immunoprecipitation data by combining structure/sequence analysis, revealing known and novel motifs including a new ILF3 motif similar to hnRNPC.