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Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis.
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.
Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease.
Shanks ME, Downes SM, Copley RR, Lise S, Broxholme J, Hudspith KA, Kwasniewska A, Davies WI, Hankins MW, Packham ER, Clouston P, Seller A, Wilkie AO, Taylor JC, Ragoussis J, Németh AH.
Shanks ME, et al. Among authors: hudspith ka.
Eur J Hum Genet. 2013 Mar;21(3):274-80. doi: 10.1038/ejhg.2012.172. Epub 2012 Sep 12.
Eur J Hum Genet. 2013.
PMID: 22968130
Free PMC article.
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Targeted next generation sequencing and family survey enable correct genetic diagnosis in CRX associated macular dystrophy - a case report.
Al-Khuzaei S, Hudspith KAZ, Broadgate S, Shanks ME, Clouston P, Németh AH, Halford S, Downes SM.
Al-Khuzaei S, et al. Among authors: hudspith kaz.
BMC Ophthalmol. 2021 Apr 9;21(1):168. doi: 10.1186/s12886-021-01919-1.
BMC Ophthalmol. 2021.
PMID: 33836713
Free PMC article.
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De novo point mutations in patients diagnosed with ataxic cerebral palsy.
Parolin Schnekenberg R, Perkins EM, Miller JW, Davies WI, D'Adamo MC, Pessia M, Fawcett KA, Sims D, Gillard E, Hudspith K, Skehel P, Williams J, O'Regan M, Jayawant S, Jefferson R, Hughes S, Lustenberger A, Ragoussis J, Jackson M, Tucker SJ, Németh AH.
Parolin Schnekenberg R, et al. Among authors: hudspith k.
Brain. 2015 Jul;138(Pt 7):1817-32. doi: 10.1093/brain/awv117. Epub 2015 May 16.
Brain. 2015.
PMID: 25981959
Free PMC article.
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