Pamela J. Shaw

This study shows that high sleep-pressure in Drosophila reprograms clock neurons to express the Pigment Dispersing Factor receptor, enhancing waking and mating success.

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.

Project MinE analyzes whole-genome sequencing data from ALS patients and controls to study genetic variation and its implications for disease susceptibility.

The paper introduces ExpansionHunter, a tool for detecting long repeat expansions from PCR-free WGS data, achieving high sensitivity and specificity in identifying pathogenic expansions.