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Cost of exome sequencing in epileptic encephalopathy: is it 'worth it'?
Forman EB, Gorman KM, Conroy J, Arthur N, Grant C, Ennis S, Allen NM, Lynch SA, King MD. Forman EB, et al. Among authors: ennis s. Arch Dis Child. 2018 Mar;103(3):304. doi: 10.1136/archdischild-2017-313240. Epub 2017 Sep 22. Arch Dis Child. 2018. PMID: 28939639 No abstract available.
A novel locus for episodic ataxia:UBR4 the likely candidate.
Conroy J, McGettigan P, Murphy R, Webb D, Murphy SM, McCoy B, Albertyn C, McCreary D, McDonagh C, Walsh O, Lynch S, Ennis S. Conroy J, et al. Among authors: ennis s. Eur J Hum Genet. 2014 Apr;22(4):505-10. doi: 10.1038/ejhg.2013.173. Epub 2013 Aug 28. Eur J Hum Genet. 2014. PMID: 23982692 Free PMC article.
Catalogue of inherited disorders found among the Irish Traveller population.
Lynch SA, Crushell E, Lambert DM, Byrne N, Gorman K, King MD, Green A, O'Sullivan S, Browne F, Hughes J, Knerr I, Monavari AA, Cotter M, McConnell VPM, Kerr B, Jones SA, Keenan C, Murphy N, Cody D, Ennis S, Turner J, Irvine AD, Casey J. Lynch SA, et al. Among authors: ennis s. J Med Genet. 2018 Apr;55(4):233-239. doi: 10.1136/jmedgenet-2017-104974. Epub 2018 Jan 22. J Med Genet. 2018. PMID: 29358271
466 results