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A genetic and clinical study of individuals with nonsyndromic retinopathy consequent upon sequence variants in HGSNAT, the gene associated with Sanfilippo C mucopolysaccharidosis.
Schiff ER, Daich Varela M, Robson AG, Pierpoint K, Ba-Abbad R, Nutan S, Zein WM, Ullah E, Huryn LA, Tuupanen S, Mahroo OA, Michaelides M, Burke D, Harvey K, Arno G, Hufnagel RB, Webster AR. Schiff ER, et al. Am J Med Genet C Semin Med Genet. 2020 Sep;184(3):631-643. doi: 10.1002/ajmg.c.31822. Epub 2020 Aug 7. Am J Med Genet C Semin Med Genet. 2020. PMID: 32770643 Free PMC article.
Prph2 mutations as a cause of electronegative ERG.
Ba-Abbad R, Robson AG, Yap YC, Moore AT, Webster AR, Holder GE. Ba-Abbad R, et al. Retina. 2014 Jun;34(6):1235-43. doi: 10.1097/IAE.0000000000000052. Retina. 2014. PMID: 24608669
Mutations in CACNA2D4 Cause Distinctive Retinal Dysfunction in Humans.
Ba-Abbad R, Arno G, Carss K, Stirrups K, Penkett CJ, Moore AT, Michaelides M, Raymond FL, Webster AR, Holder GE. Ba-Abbad R, et al. Ophthalmology. 2016 Mar;123(3):668-71.e2. doi: 10.1016/j.ophtha.2015.09.045. Epub 2015 Nov 7. Ophthalmology. 2016. PMID: 26560832 No abstract available.
Clinical Features of a Retinopathy Associated With a Dominant Allele of the RGR Gene.
Ba-Abbad R, Leys M, Wang X, Chakarova C, Waseem N, Carss KJ, Raymond FL, Bujakowska KM, Pierce EA, Mahroo OA, Mohamed MD, Holder GE, Hummel M, Arno G, Webster AR. Ba-Abbad R, et al. Invest Ophthalmol Vis Sci. 2018 Oct 1;59(12):4812-4820. doi: 10.1167/iovs.18-25061. Invest Ophthalmol Vis Sci. 2018. PMID: 30347075 Free PMC article.
Isolated rod dysfunction associated with a novel genotype of CNGB1.
Ba-Abbad R, Holder GE, Robson AG, Neveu MM, Waseem N, Arno G, Webster AR. Ba-Abbad R, et al. Am J Ophthalmol Case Rep. 2019 Mar 19;14:83-86. doi: 10.1016/j.ajoc.2019.03.004. eCollection 2019 Jun. Am J Ophthalmol Case Rep. 2019. PMID: 30976726 Free PMC article.
33 results