Cathy E. Woodward
Queen Square
London, ENG, United Kingdom
London, ENG, United Kingdom
Last Updated: 09/26/2026
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Found 28 publications
Identification of Nuclear Genetic Loci Linked to Clinical Features of the m.3243A>G Mitochondrial DNA Variant.
Journal: Neurology. Genetics
Published: November 10, 2025
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.
Journal: Brain : a journal of neurology
Published: August 22, 2023
Bringing lived experience into research: good practices for public involvement in research.
Journal: Perspectives in public health
Published: July 14, 2022
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.
Journal: Nature communications
Published: March 14, 2022
Mitochondrial Strokes: Diagnostic Challenges and Chameleons.
Journal: Genes
Published: September 12, 2021
Iterative Reanalysis of Hypertrophic Cardiomyopathy Exome Data Reveals Causative Pathogenic Mitochondrial DNA Variants.
Journal: Circulation. Genomic and precision medicine
Published: May 10, 2021
Diagnosing Mitochondrial Disorders Remains Challenging in the Omics Era.
Journal: Neurology. Genetics
Published: February 12, 2021
Mitochondrial DNA Analysis from Exome Sequencing Data Improves Diagnostic Yield in Neurological Diseases.
Journal: Annals of neurology
Published: November 06, 2020
Primary mitochondrial diseases increase susceptibility to bipolar affective disorder.
Journal: Journal of neurology, neurosurgery, and psychiatry
Published: April 25, 2020
Multisystem mitochondrial disease caused by a rare m.10038G>A mitochondrial tRNAGly (MT-TG) variant.
Multisystem mitochondrial disease caused by a rare m.10038G>A mitochondrial tRNAGly (MT-TG) variant.
Journal: Neurology. Genetics
Published: July 07, 2019
Last Updated: 09/26/2026