Evan M. Reid

Cambridge, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 36 publications

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

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

Journal: medRxiv : the preprint server for health sciences

Published: April 03, 2026

Whole genome sequencing in cerebral palsy: a UK paediatric pilot study.

Whole genome sequencing in cerebral palsy: a UK paediatric pilot study.

Journal: The Lancet regional health. Europe

Published: March 07, 2026

Protrudin acts at ER-endosome contacts to promote KIF5-mediated endosomal tubule fission.

Protrudin acts at ER-endosome contacts to promote KIF5-mediated endosomal tubule fission.

Journal: Neurobiology of disease

Published: November 12, 2025

An International ASXL3 Natural History Study: Deep Phenotypic Analyses Including Detailed Reports of a Milder Phenotype, Novel Associations, and Clinical Recommendations.

An International ASXL3 Natural History Study: Deep Phenotypic Analyses Including Detailed Reports of a Milder Phenotype, Novel Associations, and Clinical Recommendations.

Journal: American journal of medical genetics. Part A

Published: April 28, 2025

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

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

Journal: medRxiv : the preprint server for health sciences

Published: May 15, 2024

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

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

Journal: Neurobiology of disease

Published: April 05, 2024

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

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

Journal: Genome research

Published: March 28, 2024

First Measurement of the Nuclear-Recoil Ionization Yield in Silicon at 100 eV.

First Measurement of the Nuclear-Recoil Ionization Yield in Silicon at 100 eV.

Journal: Physical review letters

Published: March 21, 2023

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.

Journal: American journal of human genetics

Published: March 13, 2023

Ataxia and spastic paraplegia in mitochondrial disease.

Ataxia and spastic paraplegia in mitochondrial disease.

Journal: Handbook of clinical neurology

Published: February 22, 2023

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

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

Journal: Molecular biology of the cell

Published: August 17, 2022

Expanding the phenotype of ASXL3-related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3.

Expanding the phenotype of ASXL3-related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3.

Journal: American journal of medical genetics. Part A

Published: February 15, 2021

Showing 1-12 of 36

Last Updated: 09/26/2026