Concepedia

Carl Fratter

CF

45

Publications

2.7K

Citations

35

H-Index

2005

Active since

Affiliations

University of Oxford(Current)

Oxford University Hospitals NHS Trust

University College London

Churchill Hospital

National Hospital for Neurology and Neurosurgery

Carl Fratter is an author at University of Oxford specializing in medicine, genetics, and mitochondrial function.

ORCID

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Publications per year

2005–2024

45

Publications

45

Identification of 70 calcium-sensing receptor mutations in hyper- and hypo-calcaemic patients: evidence for clustering of extracellular domain mutations at calcium-binding sites

Fadil Hannan, M. Andrew Nesbit, C. Zhang et al. · Human Molecular Genetics · 2012 · 183 citations

Rare NaV1.7 variants associated with painful diabetic peripheral neuropathy

Iulia Blesneac, Andreas C. Themistocleous, Carl Fratter et al. · Pain · 2017 · 135 citations · Full text

Paediatric single mitochondrial DNA deletion disorders: an overlapping spectrum of disease

Alexander Broomfield, Mary G. Sweeney, Cathy E. Woodward et al. · Journal of Inherited Metabolic Disease · 2014 · 132 citations · Full text

Parafibromin mutations in hereditary hyperparathyroidism syndromes and parathyroid tumours

Karin Bradley, Branca Cavaco, Michael R. Bowl et al. · Clinical Endocrinology · 2006 · 110 citations

Accurate Detection and Quantitation of Heteroplasmic Mitochondrial Point Mutations by Pyrosequencing

Helen White, V.J. Durston, A Seller et al. · Genetic Testing · 2005 · 104 citations

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