Items where authors include "Fratter, C."

Article

Pagnamenta, A.T. orcid.org/0000-0001-7334-0602, Yu, J., Walker, S. et al. (65 more authors) (2024) The impact of inversions across 33,924 families with rare disease from a national genome sequencing project. The American Journal of Human Genetics, 111 (6). pp. 1140-1164. ISSN 0002-9297

Wood, E. orcid.org/0000-0001-7418-6037, Parker, M.D. orcid.org/0000-0003-2999-3870, Dunning, M.J. orcid.org/0000-0002-8853-9435 et al. (4 more authors) (2019) Clinical long-read sequencing of the human mitochondrial genome for mitochondrial disease diagnostics. bioRxiv. (Submitted)

Blesneac, I., Themistocleous, A.C., Fratter, C. et al. (8 more authors) (2018) Rare NaV1.7 variants associated with painful diabetic peripheral neuropathy. Pain, 159 (3). pp. 469-480. ISSN 0304-3959

Liao, C., Ashley, N., Diot, A. et al. (30 more authors) (2017) Dysregulated mitophagy and mitochondrial organization in optic atrophy due to OPA1 mutations. Neurology, 88 (2). pp. 131-142. ISSN 0028-3878

Dombi, E., Diot, A., Morten, K. et al. (16 more authors) (2016) The m.13051G>A mitochondrial DNA mutation results in variable neurology and activated mitophagy. Neurology, 86 (20). pp. 1921-1923. ISSN 0028-3878