Evan Reid

Blood-based RNA-Seq of 5412 individuals with rare disease identifies new candidate diagnoses in the National Genomic Research Library

Unraveling undiagnosed rare disease cases by HiFi long-read genome sequencing

Rare Cholesterol Related Disorders – A Sterolomic Library for Diagnosis and Monitoring of Diseases

Unravelling undiagnosed rare disease cases by HiFi long-read genome sequencing

Unravelling undiagnosed rare disease cases by HiFi long-read genome sequencing

Protrudin acts at ER-endosome contacts to promote KIF5-mediated endosomal fission and endosome-to-Golgi transport

Atlastin-1 regulates endosomal tubulation and lysosomal proteolysis in human cortical neurons

Genome sequencing and comprehensive rare-variant analysis of 465 families with neurodevelopmental disorders.

Genome Sequencing and Comprehensive Rare Variant Analysis of 465 Families with Neurodevelopmental Disorders

AP-4 regulates neuronal lysosome composition, function, and transport via regulating export of critical lysosome receptor proteins at the trans-Golgi network

The contribution of X-linked coding variation to severe developmental disorders

Expanding the phenotype of <scp><i>ASXL3</i></scp>‐related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in <scp><i>ASXL3</i></scp>

Evidence that autosomal recessive spastic cerebral palsy-1 (CPSQ1) is caused by a missense variant in <i>HPDL</i>.

Evidence for 28 genetic disorders discovered by combining healthcare and research data

Protrudin functions from the endoplasmic reticulum to support axon regeneration in the adult CNS

De Novo VPS4A Mutations Cause Multisystem Disease with Abnormal Neurodevelopment.

Protrudin functions from the endoplasmic reticulum to support axon regeneration in the adult CNS.

Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment

ESCRT-III-associated proteins and spastin inhibit protrudin-dependent polarised membrane traffic.

Identification of UBAP1 mutations in juvenile hereditary spastic paraplegia in the 100,000 Genomes Project.

Hereditary spastic paraplegia: from diagnosis to emerging therapeutic approaches.

Spastin MIT Domain Disease-Associated Mutations Disrupt Lysosomal Function.

Defects in ER–endosome contacts impact lysosome function in hereditary spastic paraplegia

Large Intragenic Deletion in DSTYK Underlies Autosomal-Recessive Complicated Spastic Paraparesis, SPG23

Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12