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Diagnostic yield of panel-based genetic testing in syndromic inherited retinal disease.
Jiman OA, Taylor RL, Lenassi E, Smith JC, Douzgou S, Ellingford JM, Barton S, Hardcastle C, Fletcher T, Campbell C, Ashworth J, Biswas S, Ramsden SC; UK Inherited Retinal Disease Consortium; Manson FD, Black GC. Jiman OA, et al. Among authors: biswas s. Eur J Hum Genet. 2020 May;28(5):576-586. doi: 10.1038/s41431-019-0548-5. Epub 2019 Dec 13. Eur J Hum Genet. 2020. PMID: 31836858 Free PMC article.
Missense mutations in COL8A2, the gene encoding the alpha2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy.
Biswas S, Munier FL, Yardley J, Hart-Holden N, Perveen R, Cousin P, Sutphin JE, Noble B, Batterbury M, Kielty C, Hackett A, Bonshek R, Ridgway A, McLeod D, Sheffield VC, Stone EM, Schorderet DF, Black GC. Biswas S, et al. Hum Mol Genet. 2001 Oct 1;10(21):2415-23. doi: 10.1093/hmg/10.21.2415. Hum Mol Genet. 2001. PMID: 11689488
The ophthalmic findings in Cohen syndrome.
Chandler KE, Biswas S, Lloyd IC, Parry N, Clayton-Smith J, Black GC. Chandler KE, et al. Among authors: biswas s. Br J Ophthalmol. 2002 Dec;86(12):1395-8. doi: 10.1136/bjo.86.12.1395. Br J Ophthalmol. 2002. PMID: 12446373 Free PMC article.
The ocular features of the mucopolysaccharidoses.
Ashworth JL, Biswas S, Wraith E, Lloyd IC. Ashworth JL, et al. Among authors: biswas s. Eye (Lond). 2006 May;20(5):553-63. doi: 10.1038/sj.eye.6701921. Eye (Lond). 2006. PMID: 15905869
Mucopolysaccharidoses and the eye.
Ashworth JL, Biswas S, Wraith E, Lloyd IC. Ashworth JL, et al. Among authors: biswas s. Surv Ophthalmol. 2006 Jan-Feb;51(1):1-17. doi: 10.1016/j.survophthal.2005.11.007. Surv Ophthalmol. 2006. PMID: 16414358 Review.
Clinical review of periorbital capillary hemangioma of infancy.
Jalil A, Maino A, Bhojwani R, Vose M, Ashworth J, Lloyd IC, Biswas S. Jalil A, et al. Among authors: biswas s. J Pediatr Ophthalmol Strabismus. 2011 Jul-Aug;48(4):218-25. doi: 10.3928/01913913-20100719-04. Epub 2010 Jul 22. J Pediatr Ophthalmol Strabismus. 2011. PMID: 20669880 Review.
4,045 results