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Page 1
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. Among authors: reuter p. Mol Vis. 2015 Mar 7;21:236-43. eCollection 2015. Mol Vis. 2015. PMID: 25802487 Free PMC article.
Homozygous missense variant in the human CNGA3 channel causes cone-rod dystrophy.
Shaikh RS, Reuter P, Sisk RA, Kausar T, Shahzad M, Maqsood MI, Yousif A, Ali M, Riazuddin S, Wissinger B, Ahmed ZM. Shaikh RS, et al. Among authors: reuter p. Eur J Hum Genet. 2015 Apr;23(4):473-80. doi: 10.1038/ejhg.2014.136. Epub 2014 Jul 23. Eur J Hum Genet. 2015. PMID: 25052312 Free PMC article.
Accessory heterozygous mutations in cone photoreceptor CNGA3 exacerbate CNG channel-associated retinopathy.
Burkard M, Kohl S, Krätzig T, Tanimoto N, Brennenstuhl C, Bausch AE, Junger K, Reuter P, Sothilingam V, Beck SC, Huber G, Ding XQ, Mayer AK, Baumann B, Weisschuh N, Zobor D, Hahn GA, Kellner U, Venturelli S, Becirovic E, Charbel Issa P, Koenekoop RK, Rudolph G, Heckenlively J, Sieving P, Weleber RG, Hamel C, Zong X, Biel M, Lukowski R, Seeliger MW, Michalakis S, Wissinger B, Ruth P. Burkard M, et al. Among authors: reuter p. J Clin Invest. 2018 Dec 3;128(12):5663-5675. doi: 10.1172/JCI96098. Epub 2018 Nov 12. J Clin Invest. 2018. PMID: 30418171 Free PMC article.
A duplication on chromosome 16q12 affecting the IRXB gene cluster is associated with autosomal dominant cone dystrophy with early tritanopic color vision defect.
Kohl S, Llavona P, Sauer A, Reuter P, Weisschuh N, Kempf M, Dehmelt FA, Arrenberg AB, Sliesoraityte I, Zrenner E, van Schooneveld MJ, Rudolph G, Kühlewein L, Wissinger B. Kohl S, et al. Among authors: reuter p. Hum Mol Genet. 2021 Jun 17;30(13):1218-1229. doi: 10.1093/hmg/ddab117. Hum Mol Genet. 2021. PMID: 33891002 Free PMC article.
228 results