Author

Conrad Smith

Observed name: Smith, Conrad

Institution: Churchill Hospital

Observed institutions: Churchill Hospital, University of Oxford, Oxford Centre for Diabetes, Endocrinology and Metabolism, Oxford University Hospitals NHS Trust

OpenAlex ID: A5143769100

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

2023 · Alistair T. Pagnamenta, Carme Camps, et al. · Genome Medicine · 82

Survival and causes of death in primary mitochondrial diseases

2026 · Katherine R. Schon, Jeanette Aston, et al. · Genome Medicine

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

2014 · Johanna Uusimaa, Julie Evans, et al. · Newcastle University ePrints (Newcastle Univesity)

The c.48G > A variant in the mitochondrial DNA maintenance gene, RRM2B, causes adult-onset autosomal dominant PEO via aberrant splicing

2012 · Conrad Smith, J. Evans, et al. · Newcastle University ePrints (Newcastle Univesity)

Works count: 7

Citation count: 82

H-index: 1

I10-index: 1