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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1988 1
1992 1
1995 1
1996 1
1997 2
1999 2
2000 1
2002 2
2003 4
2005 1
2006 3
2009 1
2010 2
2011 2
2012 2
2013 3
2014 1
2015 2
2016 2
2017 1
2019 1
2020 1
2021 2
2022 2
2023 4
2024 0

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42 results

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Page 1
Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study.
Schon KR, Horvath R, Wei W, Calabrese C, Tucci A, Ibañez K, Ratnaike T, Pitceathly RDS, Bugiardini E, Quinlivan R, Hanna MG, Clement E, Ashton E, Sayer JA, Brennan P, Josifova D, Izatt L, Fratter C, Nesbitt V, Barrett T, McMullen DJ, Smith A, Deshpande C, Smithson SF, Festenstein R, Canham N, Caulfield M, Houlden H, Rahman S, Chinnery PF; Genomics England Research Consortium. Schon KR, et al. Among authors: festenstein r. BMJ. 2021 Nov 3;375:e066288. doi: 10.1136/bmj-2021-066288. BMJ. 2021. PMID: 34732400 Free PMC article. Clinical Trial.
Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study.
Ibañez K, Polke J, Hagelstrom RT, Dolzhenko E, Pasko D, Thomas ERA, Daugherty LC, Kasperaviciute D, Smith KR; WGS for Neurological Diseases Group; Deans ZC, Hill S, Fowler T, Scott RH, Hardy J, Chinnery PF, Houlden H, Rendon A, Caulfield MJ, Eberle MA, Taft RJ, Tucci A; Genomics England Research Consortium. Ibañez K, et al. Lancet Neurol. 2022 Mar;21(3):234-245. doi: 10.1016/S1474-4422(21)00462-2. Lancet Neurol. 2022. PMID: 35182509 Free PMC article.
Epigenetics and Triplet-Repeat Neurological Diseases.
Nageshwaran S, Festenstein R. Nageshwaran S, et al. Among authors: festenstein r. Front Neurol. 2015 Dec 21;6:262. doi: 10.3389/fneur.2015.00262. eCollection 2015. Front Neurol. 2015. PMID: 26733936 Free PMC article. Review.
Gene regulation and epigenetics in Friedreich's ataxia.
Yandim C, Natisvili T, Festenstein R. Yandim C, et al. Among authors: festenstein r. J Neurochem. 2013 Aug;126 Suppl 1:21-42. doi: 10.1111/jnc.12254. J Neurochem. 2013. PMID: 23859339 Free article. Review.
Mouse HP1γ regulates TRF1 expression and telomere stability.
Stylianakis E, Chan JPK, Law PP, Jiang Y, Khadayate S, Karimi MM, Festenstein R, Vannier JB. Stylianakis E, et al. Among authors: festenstein r. Life Sci. 2023 Oct 15;331:122030. doi: 10.1016/j.lfs.2023.122030. Epub 2023 Aug 18. Life Sci. 2023. PMID: 37598977 Free article.
42 results