Concepedia

John W. Yarham

JW

Statistics

Publications

12

Citations

1.3K

H-Index

12

Active since

2011

Affiliations

Wellcome Centre for Mitochondrial Research(Current)

Newcastle University

Technical University of Munich

Helmholtz Zentrum München

Royal Victoria Infirmary

John W. Yarham is an author at Wellcome Centre for Mitochondrial Research specializing in mitochondrial genetics, genetics, and mitochondrial disorders.

ORCID

Publications per year

2011–2016

12

Publications

12

Use of Whole-Exome Sequencing to Determine the Genetic Basis of Multiple Mitochondrial Respiratory Chain Complex Deficiencies

Robert W. Taylor, Angela Pyle, Helen Griffin et al. · JAMA · 2014 · 365 citations · Full text

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A comparative analysis approach to determining the pathogenicity of mitochondrial tRNA mutations

John W. Yarham, Mazhor Aldosary, Emma L. Blakely et al. · Human Mutation · 2011 · 181 citations

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Mutations in FBXL4 Cause Mitochondrial Encephalopathy and a Disorder of Mitochondrial DNA Maintenance

Penelope E. Bonnen, John W. Yarham, Arnaud Besse et al. · The American Journal of Human Genetics · 2013 · 179 citations · Full text

, , +17

Defective i6A37 Modification of Mitochondrial and Cytosolic tRNAs Results from Pathogenic Mutations in TRIT1 and Its Substrate tRNA

John W. Yarham, Tek N. Lamichhane, Angela Pyle et al. · PLoS Genetics · 2014 · 135 citations · Full text

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<i>LRPPRC</i>mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population

Monika Oláhová, Steven Hardy, Julie Hall et al. · Brain · 2015 · 107 citations · Full text

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