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2012 1
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An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA50/ATX-FGF14.
Rafehi H, Read J, Szmulewicz DJ, Davies KC, Snell P, Fearnley LG, Scott L, Thomsen M, Gillies G, Pope K, Bennett MF, Munro JE, Ngo KJ, Chen L, Wallis MJ, Butler EG, Kumar KR, Wu KH, Tomlinson SE, Tisch S, Malhotra A, Lee-Archer M, Dolzhenko E, Eberle MA, Roberts LJ, Fogel BL, Brüggemann N, Lohmann K, Delatycki MB, Bahlo M, Lockhart PJ. Rafehi H, et al. Among authors: fearnley lg. Am J Hum Genet. 2023 Jan 5;110(1):105-119. doi: 10.1016/j.ajhg.2022.11.015. Epub 2022 Dec 8. Am J Hum Genet. 2023. PMID: 36493768 Free PMC article.
Short tandem repeat expansions in sporadic amyotrophic lateral sclerosis and frontotemporal dementia.
Henden L, Fearnley LG, Grima N, McCann EP, Dobson-Stone C, Fitzpatrick L, Friend K, Hobson L, Chan Moi Fat S, Rowe DB, D'Silva S, Kwok JB, Halliday GM, Kiernan MC, Mazumder S, Timmins HC, Zoing M, Pamphlett R, Adams L, Bahlo M, Blair IP, Williams KL. Henden L, et al. Among authors: fearnley lg. Sci Adv. 2023 May 5;9(18):eade2044. doi: 10.1126/sciadv.ade2044. Epub 2023 May 5. Sci Adv. 2023. PMID: 37146135 Free PMC article.
An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA27B/ATX-FGF14.
Rafehi H, Read J, Szmulewicz DJ, Davies KC, Snell P, Fearnley LG, Scott L, Thomsen M, Gillies G, Pope K, Bennett MF, Munro JE, Ngo KJ, Chen L, Wallis MJ, Butler EG, Kumar KR, Wu KH, Tomlinson SE, Tisch S, Malhotra A, Lee-Archer M, Dolzhenko E, Eberle MA, Roberts LJ, Fogel BL, Brüggemann N, Lohmann K, Delatycki MB, Bahlo M, Lockhart PJ. Rafehi H, et al. Among authors: fearnley lg. Am J Hum Genet. 2023 Jun 1;110(6):1018. doi: 10.1016/j.ajhg.2023.05.005. Am J Hum Genet. 2023. PMID: 37267898 Free PMC article. No abstract available.
Synthetic Epigenetic Reprogramming of Mesenchymal to Epithelial States Using the CRISPR/dCas9 Platform in Triple Negative Breast Cancer.
Waryah C, Cursons J, Foroutan M, Pflueger C, Wang E, Molania R, Woodward E, Sorolla A, Wallis C, Moses C, Glas I, Magalhães L, Thompson EW, Fearnley LG, Chaffer CL, Davis M, Papenfuss AT, Redfern A, Lister R, Esteller M, Blancafort P. Waryah C, et al. Among authors: fearnley lg. Adv Sci (Weinh). 2023 Aug;10(22):e2301802. doi: 10.1002/advs.202301802. Epub 2023 May 22. Adv Sci (Weinh). 2023. PMID: 37217832 Free PMC article.
Multi-level remodelling of chromatin underlying activation of human T cells.
Bediaga NG, Coughlan HD, Johanson TM, Garnham AL, Naselli G, Schröder J, Fearnley LG, Bandala-Sanchez E, Allan RS, Smyth GK, Harrison LC. Bediaga NG, et al. Among authors: fearnley lg. Sci Rep. 2021 Jan 12;11(1):528. doi: 10.1038/s41598-020-80165-9. Sci Rep. 2021. PMID: 33436846 Free PMC article.
A founder event causing a dominant childhood epilepsy survives 800 years through weak selective pressure.
Grinton BE, Robertson E, Fearnley LG, Scheffer IE, Marson AG, O'Brien TJ, Pickrell WO, Rees MI, Sisodiya SM, Balding DJ, Bennett MF, Bahlo M, Berkovic SF, Oliver KL. Grinton BE, et al. Among authors: fearnley lg. Am J Hum Genet. 2022 Nov 3;109(11):2080-2087. doi: 10.1016/j.ajhg.2022.10.004. Epub 2022 Oct 25. Am J Hum Genet. 2022. PMID: 36288729 Free PMC article.
16 results