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Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis.
Martin HC, Kim GE, Pagnamenta AT, Murakami Y, Carvill GL, Meyer E, Copley RR, Rimmer A, Barcia G, Fleming MR, Kronengold J, Brown MR, Hudspith KA, Broxholme J, Kanapin A, Cazier JB, Kinoshita T, Nabbout R; WGS500 Consortium; Bentley D, McVean G, Heavin S, Zaiwalla Z, McShane T, Mefford HC, Shears D, Stewart H, Kurian MA, Scheffer IE, Blair E, Donnelly P, Kaczmarek LK, Taylor JC. Martin HC, et al. Among authors: mcshane t. Hum Mol Genet. 2014 Jun 15;23(12):3200-11. doi: 10.1093/hmg/ddu030. Epub 2014 Jan 25. Hum Mol Genet. 2014. PMID: 24463883 Free PMC article.
Milder phenotypes of glucose transporter type 1 deficiency syndrome.
Anand G, Padeniya A, Hanrahan D, Scheffer H, Zaiwalla Z, Cox D, Mann N, Hewertson J, Price S, Nemeth A, Arsov T, Scheffer I, Jayawant S, Pike M, McShane T. Anand G, et al. Among authors: mcshane t. Dev Med Child Neurol. 2011 Jul;53(7):664-8. doi: 10.1111/j.1469-8749.2011.03949.x. Epub 2011 Mar 24. Dev Med Child Neurol. 2011. PMID: 21649651 Free article.
GNAO1 encephalopathy: Broadening the phenotype and evaluating treatment and outcome.
Danti FR, Galosi S, Romani M, Montomoli M, Carss KJ, Raymond FL, Parrini E, Bianchini C, McShane T, Dale RC, Mohammad SS, Shah U, Mahant N, Ng J, McTague A, Samanta R, Vadlamani G, Valente EM, Leuzzi V, Kurian MA, Guerrini R. Danti FR, et al. Among authors: mcshane t. Neurol Genet. 2017 Mar 21;3(2):e143. doi: 10.1212/NXG.0000000000000143. eCollection 2017 Apr. Neurol Genet. 2017. PMID: 28357411 Free PMC article.
Paediatric video-telemetry safety survey.
McAuley CF, Aylett S, Dunkley C, Zaiwalla Z, McShane T. McAuley CF, et al. Among authors: mcshane t. Arch Dis Child. 2012 Mar;97(3):298-9. doi: 10.1136/archdischild-2011-301293. Epub 2012 Jan 3. Arch Dis Child. 2012. PMID: 22215817 No abstract available.
Electroclinical outcome of children referred with suspected absence seizures.
Anand G, Padeniya A, Jain R, Hasan N, Jayawant S, Pike M, McShane T, Zaiwalla Z. Anand G, et al. Among authors: mcshane t. Arch Dis Child. 2011 Oct;96(10):987-8. doi: 10.1136/archdischild-2011-300531. Epub 2011 Sep 8. Arch Dis Child. 2011. PMID: 21908420 No abstract available.
Brain tumours in paediatrics: when should they be suspected?
Kariyawasam DS, McShane T. Kariyawasam DS, et al. Among authors: mcshane t. Arch Dis Child. 2015 Dec;100(12):1102-3. doi: 10.1136/archdischild-2015-308729. Epub 2015 Aug 21. Arch Dis Child. 2015. PMID: 26297698 No abstract available.
126 results