Concepedia

Conrad Smith

CS

Statistics

Publications

11

Citations

642

H-Index

11

Active since

2008

Affiliations

University of Oxford(Current)

University College London

Churchill Hospital

National Hospital for Neurology and Neurosurgery

Oxford University Hospitals NHS Trust

Conrad Smith is an author at University of Oxford specializing in genetics, molecular genetics, and mitochondrial disorders.

ORCID

Publications per year

2008–2023

11

Publications

11

The clinical, histochemical, and molecular spectrum of <i>PEO1</i> (Twinkle)-linked adPEO

Carl Fratter, Gráinne S. Gorman, Joanna D. Stewart et al. · Neurology · 2010 · 96 citations

, , +17

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

Eleni Mavraki, Robyn Labrum, Kate Sergeant et al. · European Journal of Human Genetics · 2022 · 82 citations · Full text

, , +17

Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics

Robert D. S. Pitceathly, Conrad Smith, Carl Fratter et al. · Brain · 2012 · 80 citations · Full text

, , +17

Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 gene

Johanna Uusimaa, Julie Evans, Conrad Smith et al. · European Journal of Human Genetics · 2013 · 72 citations · Full text

, , +16

Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases

Alistair T. Pagnamenta, Edoardo Giacopuzzi, John Taylor et al. · Genome Medicine · 2023 · 72 citations · Full text

, , +17

1–5 of 11