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Biallelic Mutations in TBCD, Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy.
Flex E, Niceta M, Cecchetti S, Thiffault I, Au MG, Capuano A, Piermarini E, Ivanova AA, Francis JW, Chillemi G, Chandramouli B, Carpentieri G, Haaxma CA, Ciolfi A, Pizzi S, Douglas GV, Levine K, Sferra A, Dentici ML, Pfundt RR, Le Pichon JB, Farrow E, Baas F, Piemonte F, Dallapiccola B, Graham JM Jr, Saunders CJ, Bertini E, Kahn RA, Koolen DA, Tartaglia M. Flex E, et al. Among authors: francis jw. Am J Hum Genet. 2016 Oct 6;99(4):962-973. doi: 10.1016/j.ajhg.2016.08.003. Epub 2016 Sep 22. Am J Hum Genet. 2016. PMID: 27666370 Free PMC article.
Editorial: Adapted & (dis)ability sport.
Peters DM, Høigaard R, Francis JW. Peters DM, et al. Among authors: francis jw. Front Psychol. 2024 Nov 19;15:1515330. doi: 10.3389/fpsyg.2024.1515330. eCollection 2024. Front Psychol. 2024. PMID: 39629187 Free PMC article. No abstract available.
SMYD5 methylation of rpL40 links ribosomal output to gastric cancer.
Park J, Wu J, Szkop KJ, Jeong J, Jovanovic P, Husmann D, Flores NM, Francis JW, Chen YC, Benitez AM, Zahn E, Song S, Ajani JA, Wang L, Singh K, Larsson O, Garcia BA, Topisirovic I, Gozani O, Mazur PK. Park J, et al. Among authors: francis jw. Nature. 2024 Aug;632(8025):656-663. doi: 10.1038/s41586-024-07718-0. Epub 2024 Jul 24. Nature. 2024. PMID: 39048817
64 results