Systematic analysis of CNGA3 splice variants identifies different mechanisms of aberrant splicing

por Reuter, Peggy, Walter, Magdalena, Kohl, Susanne, Weisschuh, Nicole
Publicado 2023

Effective splicing restoration of a deep-intronic ABCA4 variant in cone photoreceptor precursor cells by CRISPR/SpCas9 approaches

por De Angeli, Pietro, Reuter, Peggy, Hauser, Stefan, Schöls, Ludger, Stingl, Katarina, Wissinger, Bernd, Kohl, Susanne
Publicado 2022

Development of a pharmacorphore model for pharmacological chaperones targeting mutant trafficking-deficient CNG channels

por Schärfe, Charlotta PI, Taeger, Joachim, Reuter, Peggy, Fischer, Nina M, Krüger, Jens, Wissinger, Bernd, Kohlbacher, Oliver
Publicado 2013

Paternal Uniparental Isodisomy of Chromosome 2 in a Patient with CNGA3-Associated Autosomal Recessive Achromatopsia

por Kohl, Susanne, Baumann, Britta, Dassie, Francesca, Mayer, Anja K., Solaki, Maria, Reuter, Peggy, Kühlewein, Laura, Wissinger, Bernd, Maffei, Pietro
Publicado 2021

A duplication on chromosome 16q12 affecting the IRXB gene cluster is associated with autosomal dominant cone dystrophy with early tritanopic color vision defect

por Kohl, Susanne, Llavona, Pablo, Sauer, Alexandra, Reuter, Peggy, Weisschuh, Nicole, Kempf, Melanie, Dehmelt, Florian Alexander, Arrenberg, Aristides B, Sliesoraityte, Ieva, Zrenner, Eberhart, van Schooneveld, Mary J, Rudolph, Günther, Kühlewein, Laura, Wissinger, Bernd
Publicado 2021

Novel C8orf37 mutations cause retinitis pigmentosa in consanguineous families of Pakistani origin

por Ravesh, Zeinab, El Asrag, Mohammed E., Weisschuh, Nicole, McKibbin, Martin, Reuter, Peggy, Watson, Christopher M., Baumann, Britta, Poulter, James A., Sajid, Sundus, Panagiotou, Evangelia S., O’Sullivan, James, Abdelhamed, Zakia, Bonin, Michael, Soltanifar, Mehdi, Black, Graeme C.M., Din, Muhammad Amin-ud, Toomes, Carmel, Ansar, Muhammad, Inglehearn, Chris F., Wissinger, Bernd, Ali, Manir
Publicado 2015