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Mutations in a BTB-Kelch protein, KLHL7, cause autosomal-dominant retinitis pigmentosa.
Friedman JS, Ray JW, Waseem N, Johnson K, Brooks MJ, Hugosson T, Breuer D, Branham KE, Krauth DS, Bowne SJ, Sullivan LS, Ponjavic V, Gränse L, Khanna R, Trager EH, Gieser LM, Hughbanks-Wheaton D, Cojocaru RI, Ghiasvand NM, Chakarova CF, Abrahamson M, Göring HH, Webster AR, Birch DG, Abecasis GR, Fann Y, Bhattacharya SS, Daiger SP, Heckenlively JR, Andréasson S, Swaroop A. Friedman JS, et al. Among authors: ghiasvand nm. Am J Hum Genet. 2009 Jun;84(6):792-800. doi: 10.1016/j.ajhg.2009.05.007. Am J Hum Genet. 2009. PMID: 19520207 Free PMC article.
Age-related macular degeneration: a high-resolution genome scan for susceptibility loci in a population enriched for late-stage disease.
Abecasis GR, Yashar BM, Zhao Y, Ghiasvand NM, Zareparsi S, Branham KE, Reddick AC, Trager EH, Yoshida S, Bahling J, Filippova E, Elner S, Johnson MW, Vine AK, Sieving PA, Jacobson SG, Richards JE, Swaroop A. Abecasis GR, et al. Among authors: ghiasvand nm. Am J Hum Genet. 2004 Mar;74(3):482-94. doi: 10.1086/382786. Epub 2004 Feb 16. Am J Hum Genet. 2004. PMID: 14968411 Free PMC article.
The genetic basis of early-onset hereditary ataxia in Iran: results of a national registry of a heterogeneous population.
Mahdieh N, Heidari M, Rezaei Z, Tavasoli AR, Hosseinpour S, Rasulinejad M, Dehnavi AZ, Ghahvechi Akbari M, Badv RS, Vafaei E, Mohebbi A, Mohammadi P, Hosseiny SMM, Azizimalamiri R, Nikkhah A, Pourbakhtyaran E, Rohani M, Khanbanha N, Nikbakht S, Movahedinia M, Karimi P, Ghabeli H, Hosseini SA, Rashidi FS, Garshasbi M, Kashani MR, Ghiasvand NM, Zuchner S, Synofzik M, Ashrafi MR. Mahdieh N, et al. Among authors: ghiasvand nm. Hum Genomics. 2024 Apr 3;18(1):35. doi: 10.1186/s40246-024-00598-5. Hum Genomics. 2024. PMID: 38570878 Free PMC article.