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Next-generation Sequencing in the Diagnosis of Metabolic Disease Marked by Pediatric Cataract.
Gillespie RL, Urquhart J, Anderson B, Williams S, Waller S, Ashworth J, Biswas S, Jones S, Stewart F, Lloyd IC, Clayton-Smith J, Black GC. Gillespie RL, et al. Among authors: waller s. Ophthalmology. 2016 Jan;123(1):217-20. doi: 10.1016/j.ophtha.2015.06.035. Epub 2015 Jul 30. Ophthalmology. 2016. PMID: 26233629 Review. No abstract available.
The role of small in-frame insertions/deletions in inherited eye disorders and how structural modelling can help estimate their pathogenicity.
Sergouniotis PI, Barton SJ, Waller S, Perveen R, Ellingford JM, Campbell C, Hall G, Gillespie RL, Bhaskar SS, Ramsden SC, Black GC, Lovell SC. Sergouniotis PI, et al. Among authors: waller s. Orphanet J Rare Dis. 2016 Sep 14;11(1):125. doi: 10.1186/s13023-016-0505-0. Orphanet J Rare Dis. 2016. PMID: 27628848 Free PMC article.
Novel PEX11B Mutations Extend the Peroxisome Biogenesis Disorder 14B Phenotypic Spectrum and Underscore Congenital Cataract as an Early Feature.
Taylor RL, Handley MT, Waller S, Campbell C, Urquhart J, Meynert AM, Ellingford JM, Donnelly D, Wilcox G, Lloyd IC, Mundy H, FitzPatrick DR, Deshpande C, Clayton-Smith J, Black GC. Taylor RL, et al. Among authors: waller s. Invest Ophthalmol Vis Sci. 2017 Jan 1;58(1):594-603. doi: 10.1167/iovs.16-21026. Invest Ophthalmol Vis Sci. 2017. PMID: 28129423 Free PMC article.
Embryonal sarcoma of the liver in a girl with Cockayne syndrome.
Thorbinson C, Penn A, Nicola P, Hardcastle C, Waller S, Ramsden S, Coorens THH, Tang V, Cheesman E, Douzgou S, Meyer S. Thorbinson C, et al. Among authors: waller s. Clin Genet. 2022 Mar;101(3):375-376. doi: 10.1111/cge.14094. Epub 2021 Dec 8. Clin Genet. 2022. PMID: 34878179
The Role of Genetic Testing in Children Requiring Surgery for Ectopia Lentis.
Musleh M, Bull A, Linton E, Liu J, Waller S, Hardcastle C, Clayton-Smith J, Sharma V, Black GC, Biswas S, Ashworth JL, Sergouniotis PI. Musleh M, et al. Among authors: waller s. Genes (Basel). 2023 Mar 25;14(4):791. doi: 10.3390/genes14040791. Genes (Basel). 2023. PMID: 37107549 Free PMC article.
484 results