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Rius, R, Riley, LG, Guo, Y, Menezes, M, Compton, AG, Van Bergen, NJ, Gayevskiy, V, Cowley, MJ, Cummings, BB, Adams, L, et al.
Cryptic intronic NBAS variant reveals the genetic basis of recurrent liver failure in a child.
Molecular Genetics and Metabolism
126(1)
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77 -82
2019
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Lake, NJ, Webb, BD, Stroud, DA, Richman, TR, Ruzzenente, B, Compton, AG, Mountford, HS, Pulman, J, Zangarelli, C, Rio, M, et al.
Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome.
American Journal of Human Genetics
101(2)
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239 -254
2017
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Desai, R, Frazier, AE, Durigon, R, Patel, H, Jones, AW, Rosa, ID, Lake, NJ, Compton, AG, Mountford, HS, Tucker, EJ, et al.
ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism.
Brain
140(6)
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1595 -1610
2017
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Alston, CL, Compton, AG, Formosa, LE, Strecker, V, Oláhová, M, Haack, TB, Smet, J, Stouffs, K, Diakumis, P, Ciara, E, et al.
Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype.
American Journal of Human Genetics
99(1)
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217 -227
2016
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Mordaunt, DA, Jolley, A, Balasubramaniam, S, Thorburn, DR, Mountford, HS, Compton, AG, Nicholl, J, Manton, N, Clark, D, Bratkovic, D, et al.
Phenotypic variation of TTC19‐deficient mitochondrial complex III deficiency: A case report and literature review.
American Journal of Medical Genetics Part A
167(6)
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1330 -1336
2015
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