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A novel synonymous KMT2B variant in a patient with dystonia causes aberrant splicing.
Grosz BR, Tisch S, Tchan MC, Fung VSC, Darveniza P, Fellner A, Kurian MA, McLean A, Tomlinson SE, Smyth R, Devery S, Wu KHC, Kennerson ML, Kumar KR. Grosz BR, et al. Among authors: devery s. Mol Genet Genomic Med. 2022 May;10(5):e1923. doi: 10.1002/mgg3.1923. Epub 2022 Mar 16. Mol Genet Genomic Med. 2022. PMID: 35293157 Free PMC article.
Investigation of current models of care for genetic heart disease in Australia: A national clinical audit.
Austin R, Quinn MCJ, Afoakwah C, Metke-Jimenez A, Leroux H, Atherton J, Brown JS, Wornham LJ, Macciocca I, de Silva MG, Thompson T, Martin EM, Hilton D, Devery S, Wu KHC, Jackson MR, Correnti G, Overkov A, Elbracht-Leong S, Ingles J, Scuffham P, Semsarian C, McGaughran J. Austin R, et al. Among authors: devery s. Int J Cardiol. 2021 May 1;330:128-134. doi: 10.1016/j.ijcard.2021.02.010. Epub 2021 Feb 11. Int J Cardiol. 2021. PMID: 33581180 Free article.
RFC1 expansions can mimic hereditary sensory neuropathy with cough and Sjögren syndrome.
Kumar KR, Cortese A, Tomlinson SE, Efthymiou S, Ellis M, Zhu D, Stoll M, Dominik N, Tisch S, Tchan M, Wu KHC, Devery S, Spring PJ, Hawke S, Cremer P, Ng K, Reilly MM, Nicholson GA, Houlden H, Kennerson M. Kumar KR, et al. Among authors: devery s. Brain. 2020 Oct 1;143(10):e82. doi: 10.1093/brain/awaa244. Brain. 2020. PMID: 32949124 Free PMC article. No abstract available.
Multisystem Progeroid Syndrome With Lipodystrophy, Cardiomyopathy, and Nephropathy Due to an LMNA p.R349W Variant.
Hussain I, Jin RR, Baum HBA, Greenfield JR, Devery S, Xing C, Hegele RA, Carranza-Leon BG, Linton MF, Vuitch F, Wu KHC, Precioso DR, Oshima J, Agarwal AK, Garg A. Hussain I, et al. Among authors: devery s. J Endocr Soc. 2020 Jul 27;4(10):bvaa104. doi: 10.1210/jendso/bvaa104. eCollection 2020 Oct 1. J Endocr Soc. 2020. PMID: 32939435 Free PMC article.
KBG syndrome presenting with brachydactyly type E.
Libianto R, Wu KH, Devery S, Eisman JA, Center JR. Libianto R, et al. Among authors: devery s. Bone. 2019 Jun;123:18-22. doi: 10.1016/j.bone.2019.03.012. Epub 2019 Mar 12. Bone. 2019. PMID: 30877071 Review.
23 results