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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: clouston p. 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.
Novel non-contiguous exon duplication in choroideremia.
Edwards TL, Williams J, Patrício MI, Simunovic MP, Shanks M, Clouston P, MacLaren RE. Edwards TL, et al. Among authors: clouston p. Clin Genet. 2018 Jan;93(1):144-148. doi: 10.1111/cge.13021. Epub 2017 Apr 19. Clin Genet. 2018. PMID: 28369842
Atypical choroideremia presenting with early-onset macular atrophy.
Kontos G, Kwan J, Xue K, Patrício MI, Clouston P, Packham E, MacLaren RE, Downes SM. Kontos G, et al. Among authors: clouston p. Acta Ophthalmol. 2019 Sep;97(6):633-636. doi: 10.1111/aos.14025. Epub 2019 Jan 28. Acta Ophthalmol. 2019. PMID: 30690895 Free article.
Clinical and Molecular Characterization of PROM1-Related Retinal Degeneration.
Cehajic-Kapetanovic J, Birtel J, McClements ME, Shanks ME, Clouston P, Downes SM, Charbel Issa P, MacLaren RE. Cehajic-Kapetanovic J, et al. Among authors: clouston p. JAMA Netw Open. 2019 Jun 5;2(6):e195752. doi: 10.1001/jamanetworkopen.2019.5752. JAMA Netw Open. 2019. PMID: 31199449 Free PMC article.
75 results