Carl Fratter

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 · 190 citations

Medicine, Genetics, Molecular Genetics +17

Rare NaV1.7 variants associated with painful diabetic peripheral neuropathy

Iulia Blesneac, Andreas C. Themistocleous, Carl Fratter et al. · Pain · 2017 · 137 citations · Full text

Medicine, Molecular Genetics, Neurology +17

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 · 136 citations · Full text

Life Sciences, Genetics, Molecular Genetics +9

Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans

Wei Wei, Alistair T. Pagnamenta, Nicholas Gleadall et al. · Nature Communications · 2020 · 129 citations · Full text

Medicine, Genetics, Molecular Genetics +15

Parafibromin mutations in hereditary hyperparathyroidism syndromes and parathyroid tumours

Karin Bradley, Branca Cavaco, Michael R. Bowl et al. · Clinical Endocrinology · 2006 · 112 citations

Medicine, Genetics, Molecular Genetics +17