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Page 1
Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing.
Weisschuh N, Mayer AK, Strom TM, Kohl S, Glöckle N, Schubach M, Andreasson S, Bernd A, Birch DG, Hamel CP, Heckenlively JR, Jacobson SG, Kamme C, Kellner U, Kunstmann E, Maffei P, Reiff CM, Rohrschneider K, Rosenberg T, Rudolph G, Vámos R, Varsányi B, Weleber RG, Wissinger B. Weisschuh N, et al. Among authors: reiff cm. PLoS One. 2016 Jan 14;11(1):e0145951. doi: 10.1371/journal.pone.0145951. eCollection 2016. PLoS One. 2016. PMID: 26766544 Free PMC article.
Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia.
Solaki M, Baumann B, Reuter P, Andreasson S, Audo I, Ayuso C, Balousha G, Benedicenti F, Birch D, Bitoun P, Blain D, Bocquet B, Branham K, Català-Mora J, De Baere E, Dollfus H, Falana M, Giorda R, Golovleva I, Gottlob I, Heckenlively JR, Jacobson SG, Jones K, Jägle H, Janecke AR, Kellner U, Liskova P, Lorenz B, Martorell-Sampol L, Messias A, Meunier I, Belga Ottoni Porto F, Papageorgiou E, Plomp AS, de Ravel TJL, Reiff CM, Renner AB, Rosenberg T, Rudolph G, Salati R, Sener EC, Sieving PA, Stanzial F, Traboulsi EI, Tsang SH, Varsanyi B, Weleber RG, Zobor D, Stingl K, Wissinger B, Kohl S. Solaki M, et al. Among authors: reiff cm. Hum Mutat. 2022 Jul;43(7):832-858. doi: 10.1002/humu.24371. Epub 2022 Apr 14. Hum Mutat. 2022. PMID: 35332618 Review.
Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of CACNA1F-mediated inherited retinal disorders.
Zeitz C, Michiels C, Neuillé M, Friedburg C, Condroyer C, Boyard F, Antonio A, Bouzidi N, Milicevic D, Veaux R, Tourville A, Zoumba A, Seneina I, Foussard M, Andrieu C, N Preising M, Blanchard S, Saraiva JP, Mesrob L, Le Floch E, Jubin C, Meyer V, Blanché H, Boland A, Deleuze JF, Sharon D, Drumare I, Defoort-Dhellemmes S, De Baere E, Leroy BP, Zanlonghi X, Casteels I, de Ravel TJ, Balikova I, Koenekoop RK, Laffargue F, McLean R, Gottlob I, Bonneau D, Schorderet DF, L Munier F, McKibbin M, Prescott K, Pelletier V, Dollfus H, Perdomo-Trujillo Y, Faure C, Reiff C, Wissinger B, Meunier I, Kohl S, Banin E, Zrenner E, Jurklies B, Lorenz B, Sahel JA, Audo I. Zeitz C, et al. Hum Mutat. 2019 Jun;40(6):765-787. doi: 10.1002/humu.23735. Epub 2019 Mar 28. Hum Mutat. 2019. PMID: 30825406
Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA-protein interaction.
Williamson KA, Hall HN, Owen LJ, Livesey BJ, Hanson IM, Adams GGW, Bodek S, Calvas P, Castle B, Clarke M, Deng AT, Edery P, Fisher R, Gillessen-Kaesbach G, Heon E, Hurst J, Josifova D, Lorenz B, McKee S, Meire F, Moore AT, Parker M, Reiff CM, Self J, Tobias ES, Verheij JBGM, Willems M, Williams D, van Heyningen V, Marsh JA, FitzPatrick DR. Williamson KA, et al. Among authors: reiff cm. Genet Med. 2020 Mar;22(3):598-609. doi: 10.1038/s41436-019-0685-9. Epub 2019 Nov 8. Genet Med. 2020. PMID: 31700164 Free PMC article.
Translational Read-Through Therapy of RPGR Nonsense Mutations.
Vössing C, Owczarek-Lipska M, Nagel-Wolfrum K, Reiff C, Jüschke C, Neidhardt J. Vössing C, et al. Int J Mol Sci. 2020 Nov 10;21(22):8418. doi: 10.3390/ijms21228418. Int J Mol Sci. 2020. PMID: 33182541 Free PMC article.
Bestrophin 1 is indispensable for volume regulation in human retinal pigment epithelium cells.
Milenkovic A, Brandl C, Milenkovic VM, Jendryke T, Sirianant L, Wanitchakool P, Zimmermann S, Reiff CM, Horling F, Schrewe H, Schreiber R, Kunzelmann K, Wetzel CH, Weber BH. Milenkovic A, et al. Among authors: reiff cm. Proc Natl Acad Sci U S A. 2015 May 19;112(20):E2630-9. doi: 10.1073/pnas.1418840112. Epub 2015 May 4. Proc Natl Acad Sci U S A. 2015. PMID: 25941382 Free PMC article.
18 results