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Author

Conrad Smith

Observed names: C. Smith, Catherine E Smith, Catherine E. Smith
Observed institutions: Churchill Hospital, University of Oxford, Salford Royal Hospital, EpiCypher (United States), Medical Genetics Center, Oxford University Hospitals NHS Trust, National Hospital for Neurology and Neurosurgery, University College London, Newcastle University
ORCID: 0009-0002-6853-5784
Observed ORCID: 0009-0002-6853-5784
OpenAlex ID: A5013957401
Genetic testing for mitochondrial disease: the United Kingdom best practice guidelines
2022 · Eleni Mavraki, Robyn Labrum, et al. · European Journal of Human Genetics · 97
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The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO
2010 · C. Fratter, G.S. Gorman, et al. · Neurology · 95
Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics
2012 · Robert D. S. Pitceathly, Conrad Smith, et al. · Brain · 83
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Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 gene
2013 · Johanna Uusimaa, Julie Evans, et al. · European Journal of Human Genetics · 72
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RRM2B mutations are frequent in familial PEO with multiple mtDNA deletions
2011 · C. Fratter, P. Raman, et al. · Neurology · 68
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Depletion of mitochondrial DNA in fibroblast cultures from patients with POLG1 mutations is a consequence of catalytic mutations
2008 · Neil Ashley, Anthony O'Rourke, et al. · Human Molecular Genetics · 64
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Prospective study of POLG mutations presenting in children with intractable epilepsy: Prevalence and clinical features
2013 · Johanna Uusimaa, Vasantha Gowda, et al. · Epilepsia · 48
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Clinicopathologic and molecular spectrum of RNASEH1 -related mitochondrial disease
2017 · Enrico Bugiardini, Olivia V. Poole, et al. · Neurology Genetics · 28
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The natural history of infantile mitochondrial DNA depletion syndrome due to RRM2B deficiency
2019 · Nandaki Keshavan, Jose Abdenur, et al. · Genetics in Medicine · 24
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Distal myopathy with cachexia: an unrecognised phenotype caused by dominantly-inherited mitochondrial polymerase γ mutations
2012 · Robert D S Pitceathly, Susan E Tomlinson, et al. · Journal of Neurology Neurosurgery & Psychiatry · 23
Nucleosome context regulates chromatin reader preference
2025 · Matthew R Marunde, Irina K Popova, et al. · Nucleic Acids Research · 9
Signaling induced biophysical disruption of repressed chromatin domains drives immune cell fate
2025 · Alexia Martínez de Paz, Christopher R. Chin, et al. · bioRxiv (Cold Spring Harbor Laboratory) · 1
Mitochondrial DNA depletion syndromes - a 5 year audit of molecular genetic diagnoses
2012 · Carl Fratter, C. Smith, et al. · Newcastle University ePrints (Newcastle Univesity)
Novel Dominant Polg Mutations Cause Distal Myopathy
2012 · R.D.S. Pitceathly, SE Tomlinson, et al. · UCL Discovery (University College London)
Mitochondrial DNA depletion syndromes - molecular diagnosis and future developments
2009 · Conrad Smith, Julie Evans, et al. · Journal of Medical Genetics
Works count: 15
Citation count: 612
H-index: 10
I10-index: 10
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