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Expanding the phenotype of SLC12A6-associated sensorimotor neuropathy.
Bogdanova-Mihaylova P, McNamara P, Burton-Jones S, Murphy SM. Bogdanova-Mihaylova P, et al. Among authors: burton jones s. BMJ Case Rep. 2021 Oct 27;14(10):e244641. doi: 10.1136/bcr-2021-244641. BMJ Case Rep. 2021. PMID: 34706912 Free PMC article.
Deletion of P2 promoter of GJB1 gene a cause of Charcot-Marie-Tooth disease.
Kulshrestha R, Burton-Jones S, Antoniadi T, Rogers M, Jaunmuktane Z, Brandner S, Kiely N, Manuel R, Willis T. Kulshrestha R, et al. Among authors: burton jones s. Neuromuscul Disord. 2017 Aug;27(8):766-770. doi: 10.1016/j.nmd.2017.05.001. Epub 2017 May 4. Neuromuscul Disord. 2017. PMID: 28601552
Characterization of large deletions in the DHCR7 gene.
Lanthaler B, Hinderhofer K, Maas B, Haas D, Sawyer H, Burton-Jones S, Carter K, Suri M, Witsch-Baumgartner M. Lanthaler B, et al. Among authors: burton jones s. Clin Genet. 2015 Aug;88(2):149-54. doi: 10.1111/cge.12454. Epub 2014 Oct 21. Clin Genet. 2015. PMID: 25040602
Best practice guidelines on genetic diagnostics of facioscapulohumeral muscular dystrophy: Update of the 2012 guidelines.
Giardina E, Camaño P, Burton-Jones S, Ravenscroft G, Henning F, Magdinier F, van der Stoep N, van der Vliet PJ, Bernard R, Tomaselli PJ, Davis MR, Nishino I, Oflazer P, Race V, Vishnu VY, Williams V, Sobreira CFR, van der Maarel SM, Moore SA, Voermans NC, Lemmers RJLF. Giardina E, et al. Among authors: burton jones s. Clin Genet. 2024 Apr 29. doi: 10.1111/cge.14533. Online ahead of print. Clin Genet. 2024. PMID: 38685133 Review.
268th ENMC workshop - Genetic diagnosis, clinical classification, outcome measures, and biomarkers in Facioscapulohumeral Muscular Dystrophy (FSHD): Relevance for clinical trials.
Montagnese F, de Valle K, Lemmers RJLF, Mul K, Dumonceaux J, Voermans N; 268th ENMC workshop participants. Montagnese F, et al. Neuromuscul Disord. 2023 May;33(5):447-462. doi: 10.1016/j.nmd.2023.04.005. Epub 2023 Apr 8. Neuromuscul Disord. 2023. PMID: 37099914 No abstract available.
Congenital central hypoventilation syndrome with PHOX2B gene mutation.
Lingappa L, Panigrahi NK, Chirla DK, Burton-Jones S, Williams MM. Lingappa L, et al. Among authors: burton jones s. Indian J Pediatr. 2012 Nov;79(11):1526-8. doi: 10.1007/s12098-012-0789-6. Epub 2012 Jun 7. Indian J Pediatr. 2012. PMID: 22674249