Robyn W. Labrum

Queen Square
London, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 24 publications

Genetic testing for Huntington's disease: Past, present and future. How could genetic data be used to improve clinical practice?

Genetic testing for Huntington's disease: Past, present and future. How could genetic data be used to improve clinical practice?

Journal: Journal of Huntington's disease

Published: December 23, 2025

Role of Repeat Tract Structure and the rs7158733 SNP in Spinocerebellar Ataxia 3.

Role of Repeat Tract Structure and the rs7158733 SNP in Spinocerebellar Ataxia 3.

Journal: International journal of molecular sciences

Published: August 12, 2025

Analysis of Short Tandem Repeat Expansions in a Cohort of 12,496 Exomes from Patients with Neurological Diseases Reveals Variable Genotyping Rate Dependent on Exome Capture Kits.

Analysis of Short Tandem Repeat Expansions in a Cohort of 12,496 Exomes from Patients with Neurological Diseases Reveals Variable Genotyping Rate Dependent on Exome Capture Kits.

Journal: Genes

Published: December 15, 2024

Parkinson's families project: a UK-wide study of early onset and familial Parkinson's disease.

Parkinson's families project: a UK-wide study of early onset and familial Parkinson's disease.

Journal: NPJ Parkinson's disease

Published: December 04, 2023

Enhanced mitochondrial genome analysis: bioinformatic and long-read sequencing advances and their diagnostic implications.

Enhanced mitochondrial genome analysis: bioinformatic and long-read sequencing advances and their diagnostic implications.

Journal: Expert review of molecular diagnostics

Published: August 29, 2023

Biallelic PTPMT1 variants disrupt cardiolipin metabolism and lead to a neurodevelopmental syndrome.

Biallelic PTPMT1 variants disrupt cardiolipin metabolism and lead to a neurodevelopmental syndrome.

Journal: Brain : a journal of neurology

Published: August 22, 2023

Leukoencephalopathy caused by a 17p13.3 microdeletion.

Leukoencephalopathy caused by a 17p13.3 microdeletion.

Journal: Journal of neurology, neurosurgery, and psychiatry

Published: June 20, 2023

Genetic testing for mitochondrial disease: the United Kingdom best practice guidelines.

Genetic testing for mitochondrial disease: the United Kingdom best practice guidelines.

Journal: European journal of human genetics : EJHG

Published: June 10, 2022

Specialist multidisciplinary input maximises rare disease diagnoses from whole genome sequencing.

Specialist multidisciplinary input maximises rare disease diagnoses from whole genome sequencing.

Journal: Nature communications

Published: March 14, 2022

Friedreich's Ataxia Frequency in a Large Cohort of Genetically Undetermined Ataxia Patients.

Friedreich's Ataxia Frequency in a Large Cohort of Genetically Undetermined Ataxia Patients.

Journal: Frontiers in neurology

Published: July 04, 2021

Interruptions of the FXN GAA Repeat Tract Delay the Age at Onset of Friedreich's Ataxia in a Location Dependent Manner.

Interruptions of the FXN GAA Repeat Tract Delay the Age at Onset of Friedreich's Ataxia in a Location Dependent Manner.

Journal: International journal of molecular sciences

Published: May 18, 2021

Mitochondrial DNA Analysis from Exome Sequencing Data Improves Diagnostic Yield in Neurological Diseases.

Mitochondrial DNA Analysis from Exome Sequencing Data Improves Diagnostic Yield in Neurological Diseases.

Journal: Annals of neurology

Published: November 06, 2020

Showing 1-12 of 24

Last Updated: 09/26/2026