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Ewen W. Sommerville

Newcastle University

15

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304

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POLRMT mutations impair mitochondrial transcription causing neurological disease.

2021 Nature Communications
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Identification of a novel heterozygous guanosine monophosphate reductase ( GMPR ) variant in a patient with a late‐onset disorder of mitochondrial DNA maintenance

2019 Clinical Genetics
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The natural history of infantile mitochondrial DNA depletion syndrome due to RRM2B deficiency

2019 Genetics in Medicine
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Author response for "Identification of a novel heterozygous guanosine monophosphate reductase ( GMPR ) variant in a patient with a late‐onset disorder of mitochondrial DNA maintenance"

2019
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Topoisomerase 3α Is Required for Decatenation and Segregation of Human mtDNA.

2018 Molecular Cell
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Instability of the mitochondrial alanyl-tRNA synthetase underlies fatal infantile-onset cardiomyopathy

2018 Human Molecular Genetics
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Clinical Features, Molecular Heterogeneity, and Prognostic Implications in YARS2-Related Mitochondrial Myopathy

2017 JAMA Neurology
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De novo CTBP1 variant is associated with decreased mitochondrial respiratory chain activities

2017 Neurology Genetics
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Lethal Neonatal LTBL Associated with Biallelic EARS2 Variants: Case Report and Review of the Reported Neuroradiological Features

2016
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Mutations in GTPBP3 Cause a Mitochondrial Translation Defect Associated with Hypertrophic Cardiomyopathy, Lactic Acidosis, and Encephalopathy

2014 American Journal of Human Genetics
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Citations (93)