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Whole exome sequencing in 17 consanguineous Iranian pedigrees expands the mutational spectrum of inherited retinal dystrophies.
Rehman AU, Sepahi N, Bedoni N, Ravesh Z, Salmaninejad A, Cancellieri F, Peter VG, Quinodoz M, Mojarrad M, Pasdar A, Asad AG, Ghalamkari S, Piran M, Piran M, Superti-Furga A, Rivolta C. Rehman AU, et al. Among authors: ravesh z. Sci Rep. 2021 Sep 29;11(1):19332. doi: 10.1038/s41598-021-98677-3. Sci Rep. 2021. PMID: 34588515 Free PMC article.
Novel C8orf37 mutations cause retinitis pigmentosa in consanguineous families of Pakistani origin.
Ravesh Z, El Asrag ME, Weisschuh N, McKibbin M, Reuter P, Watson CM, Baumann B, Poulter JA, Sajid S, Panagiotou ES, O'Sullivan J, Abdelhamed Z, Bonin M, Soltanifar M, Black GC, Amin-ud Din M, Toomes C, Ansar M, Inglehearn CF, Wissinger B, Ali M. Ravesh Z, et al. Mol Vis. 2015 Mar 7;21:236-43. eCollection 2015. Mol Vis. 2015. PMID: 25802487 Free PMC article.
The landscape of submicroscopic structural variants at the OPN1LW/OPN1MW gene cluster on Xq28 underlying blue cone monochromacy.
Wissinger B, Baumann B, Buena-Atienza E, Ravesh Z, Cideciyan AV, Stingl K, Audo I, Meunier I, Bocquet B, Traboulsi EI, Hardcastle AJ, Gardner JC, Michaelides M, Branham KE, Rosenberg T, Andreasson S, Dollfus H, Birch D, Vincent AL, Martorell L, Català Mora J, Kellner U, Rüther K, Lorenz B, Preising MN, Manfredini E, Zarate YA, Vijzelaar R, Zrenner E, Jacobson SG, Kohl S. Wissinger B, et al. Among authors: ravesh z. Proc Natl Acad Sci U S A. 2022 Jul 5;119(27):e2115538119. doi: 10.1073/pnas.2115538119. Epub 2022 Jun 27. Proc Natl Acad Sci U S A. 2022. PMID: 35759666 Free PMC article.
14 results