Evan Reid

The paper uses blood-based RNA-Seq on 5,412 individuals with rare diseases to identify new candidate diagnoses and shows its utility in prioritizing genetic variants.

This study identifies cell-type-specific adaptations to mitochondrial stress in MTRFR mutations, showing cortical neurons activate survival programs while motor neurons undergo apoptosis.

This study identifies protrudin's role in promoting endosomal tubule fission and endosome-to-Golgi transport by interacting with ER-localised VAP proteins and KIF5.

The paper introduces a mass spectrometry sterolomic library to aid in diagnosing cholesterol-related inherited disorders by analyzing sterol profiles from 13 autosomal recessive disorders and predicting data for 8 more.

This study shows that atlastin-1 deficiency in human cortical neurons disrupts ER morphology, endosomal tubulation, and lysosomal proteolysis, linking ER dysfunction to HSP pathogenesis.

The paper uses HiFi long-read sequencing to identify genetic variants in undiagnosed rare disease families, finding novel diagnoses in 13% of cases and candidate variants in 4.3%.

This study uses genome sequencing to identify causal variants in families with neurodevelopmental disorders, finding 36% of affected individuals have causal variants and 26% have variants of uncertain significance.

The paper analyzes X-linked coding variation in developmental disorders, finding similar rates in males and females and estimating pathogenicity of inherited variants.

This study shows that Protrudin, when overexpressed, supports axon regeneration in the adult central nervous system by acting as a scaffold to organize endoplasmic reticulum, integrins, and Rab11 endosomes in the distal axon.