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Diverse clinical phenotypes associated with a nonsense mutation in FAM161A.
Rose AM, Sergouniotis P, Alfano G, Muspratt-Tucker N, Barton S, Moore AT, Black G, Bhattacharya SS, Webster AR. Rose AM, et al. Among authors: alfano g. Eye (Lond). 2015 Sep;29(9):1226-32. doi: 10.1038/eye.2015.93. Epub 2015 Jun 26. Eye (Lond). 2015. PMID: 26113502 Free PMC article.
Expression of PRPF31 and TFPT: regulation in health and retinal disease.
Rose AM, Shah AZ, Waseem NH, Chakarova CF, Alfano G, Coussa RG, Ajlan R, Koenekoop RK, Bhattacharya SS. Rose AM, et al. Among authors: alfano g. Hum Mol Genet. 2012 Sep 15;21(18):4126-37. doi: 10.1093/hmg/dds242. Epub 2012 Jun 20. Hum Mol Genet. 2012. PMID: 22723017
Genetic association and stress mediated down-regulation in trabecular meshwork implicates MPP7 as a novel candidate gene in primary open angle glaucoma.
Vishal M, Sharma A, Kaurani L, Alfano G, Mookherjee S, Narta K, Agrawal J, Bhattacharya I, Roychoudhury S, Ray J, Waseem NH, Bhattacharya SS, Basu A, Sen A, Ray K, Mukhopadhyay A. Vishal M, et al. Among authors: alfano g. BMC Med Genomics. 2016 Mar 22;9:15. doi: 10.1186/s12920-016-0177-6. BMC Med Genomics. 2016. PMID: 27001270 Free PMC article.
Mutations in SPATA13/ASEF2 cause primary angle closure glaucoma.
Waseem NH, Low S, Shah AZ, Avisetti D, Ostergaard P, Simpson M, Niemiec KA, Martin-Martin B, Aldehlawi H, Usman S, Lee PS, Khawaja AP, Ruddle JB, Shah A, Sackey E, Day A, Jiang Y, Swinfield G, Viswanathan A, Alfano G, Chakarova C, Cordell HJ, Garway-Heath DF, Khaw PT, Bhattacharya SS, Waseem A, Foster PJ. Waseem NH, et al. Among authors: alfano g. PLoS Genet. 2020 Apr 27;16(4):e1008721. doi: 10.1371/journal.pgen.1008721. eCollection 2020 Apr. PLoS Genet. 2020. PMID: 32339198 Free PMC article.
218 results