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Mutations in ARL2BP, encoding ADP-ribosylation-factor-like 2 binding protein, cause autosomal-recessive retinitis pigmentosa.
Davidson AE, Schwarz N, Zelinger L, Stern-Schneider G, Shoemark A, Spitzbarth B, Gross M, Laxer U, Sosna J, Sergouniotis PI, Waseem NH, Wilson R, Kahn RA, Plagnol V, Wolfrum U, Banin E, Hardcastle AJ, Cheetham ME, Sharon D, Webster AR. Davidson AE, et al. Among authors: waseem nh. Am J Hum Genet. 2013 Aug 8;93(2):321-9. doi: 10.1016/j.ajhg.2013.06.003. Epub 2013 Jul 11. Am J Hum Genet. 2013. PMID: 23849777 Free PMC article.
Biallelic mutations in the autophagy regulator DRAM2 cause retinal dystrophy with early macular involvement.
El-Asrag ME, Sergouniotis PI, McKibbin M, Plagnol V, Sheridan E, Waseem N, Abdelhamed Z, McKeefry D, Van Schil K, Poulter JA; UK Inherited Retinal Disease Consortium; Johnson CA, Carr IM, Leroy BP, De Baere E, Inglehearn CF, Webster AR, Toomes C, Ali M. El-Asrag ME, et al. Am J Hum Genet. 2015 Jun 4;96(6):948-54. doi: 10.1016/j.ajhg.2015.04.006. Epub 2015 May 14. Am J Hum Genet. 2015. PMID: 25983245 Free PMC article.
A homozygous mutation in the TUB gene associated with retinal dystrophy and obesity.
Borman AD, Pearce LR, Mackay DS, Nagel-Wolfrum K, Davidson AE, Henderson R, Garg S, Waseem NH, Webster AR, Plagnol V, Wolfrum U, Farooqi IS, Moore AT. Borman AD, et al. Among authors: waseem nh. Hum Mutat. 2014 Mar;35(3):289-93. doi: 10.1002/humu.22482. Epub 2013 Dec 20. Hum Mutat. 2014. PMID: 24375934 Free PMC article.
Mutations in TOPORS cause autosomal dominant retinitis pigmentosa with perivascular retinal pigment epithelium atrophy.
Chakarova CF, Papaioannou MG, Khanna H, Lopez I, Waseem N, Shah A, Theis T, Friedman J, Maubaret C, Bujakowska K, Veraitch B, Abd El-Aziz MM, Prescott de Q, Parapuram SK, Bickmore WA, Munro PM, Gal A, Hamel CP, Marigo V, Ponting CP, Wissinger B, Zrenner E, Matter K, Swaroop A, Koenekoop RK, Bhattacharya SS. Chakarova CF, et al. Am J Hum Genet. 2007 Nov;81(5):1098-103. doi: 10.1086/521953. Epub 2007 Sep 26. Am J Hum Genet. 2007. PMID: 17924349 Free PMC article.
67 results