Clinical and Genetic Findings in a Cohort of Patients with PRPF31-Associated Retinal Dystrophy

Authors: BODENBENDER, JAN-PHILIPP, BETHGE, LEON, STINGL, KATARINA, MAZZOLA, PASCALE, HAACK, TOBIAS, BISKUP, SASKIA, WISSINGER, BERND, WEISSCHUH, NICOLE, KOHL, SUSANNE ^*, KÜHLEWEIN, LAURA ^*

Source: In American Journal of Ophthalmology November 2024 267:213-229

Splicing defects and CRISPR-Cas9 correction in isogenic homozygous photoreceptor precursors harboring clustered deep-intronic ABCA4 variants

Authors: De Angeli, Pietro, Flores-Tufiño, Arturo, Stingl, Katarina, Kühlewein, Laura, Roschi, Eleonora, Wissinger, Bernd, Kohl, Susanne

Source: In Molecular Therapy - Nucleic Acids 12 March 2024 35(1)

The landscape of submicroscopic structural variants at the OPN1LW/OPN1MW gene cluster on Xq28 underlying blue cone monochromacy

Authors: Wissinger, Bernd, Baumann, Britta, Buena-Atienza, Elena, Ravesh, Zeinab, Cideciyan, Artur V., Stingl, Katarina, Audo, Isabelle, Meunier, Isabelle, Bocquet, Beatrice, Traboulsi, Elias I., Hardcastle, Alison J., Gardner, Jessica C., Michaelides, Michel, Branham, Kari E., Rosenberg, Thomas, Andreasson, Sten, Dollfus, Hélène, Birch, David, Vincent, Andrea L., Martorell, Loreto, Mora, Jaume Català, Kellner, Ulrich, Rüther, Klaus, Lorenz, Birgit, Preising, Markus N., Manfredini, Emanuela, Zarate, Yuri A., Vijzelaar, Raymon, Zrenner, Eberhart, Jacobson, Samuel G., Kohl, Susanne

Source: Proceedings of the National Academy of Sciences of the United States of America, 2022 Jul 01. 119(27), 1-10.

Access URL: https://www.jstor.org/stable/27153050

Functional evaluation allows ACMG/AMP-based re-classification of CNGA3 variants associated with achromatopsia

Authors: Solaki, Maria, Wissinger, Bernd, Kohl, Susanne, Reuter, Peggy

Source: In Genetics in Medicine December 2023 25(12)

Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction

Authors: Reurink, Janine, Weisschuh, Nicole, Garanto, Alejandro, Dockery, Adrian, van den Born, L. Ingeborgh, Fajardy, Isabelle, Haer-Wigman, Lonneke, Kohl, Susanne, Wissinger, Bernd, Farrar, G. Jane, Ben-Yosef, Tamar, Pfiffner, Fatma Kivrak, Berger, Wolfgang, Weener, Marianna E., Dudakova, Lubica, Liskova, Petra, Sharon, Dror, Salameh, Manar, Offenheim, Ashley, Heon, Elise, Girotto, Giorgia, Gasparini, Paolo, Morgan, Anna, Bergen, Arthur A., ten Brink, Jacoline B., Klaver, Caroline C.W., Tranebjærg, Lisbeth, Rendtorff, Nanna D., Vermeer, Sascha, Smits, Jeroen J., Pennings, Ronald J.E., Aben, Marco, Oostrik, Jaap, Astuti, Galuh D.N., Corominas Galbany, Jordi, Kroes, Hester Y., Phan, Milan, van Zelst-Stams, Wendy A.G., Thiadens, Alberta A.H.J., Verheij, Joke B.G.M., van Schooneveld, Mary J., de Bruijn, Suzanne E., Li, Catherina H.Z., Hoyng, Carel B., Gilissen, Christian, Vissers, Lisenka E.L.M., Cremers, Frans P.M., Kremer, Hannie, van Wijk, Erwin, Roosing, Susanne

Source: In Human Genetics and Genomics Advances 13 April 2023 4(2)

Therapy with voretigene neparvovec. How to measure success?

Authors: Stingl, Krunoslav, Kempf, Melanie, Jung, Ronja, Kortüm, Friederike, Righetti, Giulia, Reith, Milda, Dimopoulos, Spyridon, Ott, Saskia, Kohl, Susanne, Stingl, Katarina

Source: In Progress in Retinal and Eye Research January 2023 92

Frequency-dependent retinal responsiveness to sinusoidal electrical stimulation in achromatopsia

Authors: Jung, Ronja, Kempf, Melanie, Pohl, Lisa, Kortüm, Friederike, Reith, Milda, Kelbsch, Carina, Kohl, Susanne, Wilhelm, Helmut, Wilhelm, Barbara, Stingl, Katarina, Stingl, Krunoslav

Source: In Experimental Eye Research January 2023 226

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

Authors: De Angeli, Pietro, Reuter, Peggy, Hauser, Stefan, Schöls, Ludger, Stingl, Katarina, Wissinger, Bernd, Kohl, Susanne

Source: Molecular therapy.Nucleic acids. 29:511-524

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100176634089.0x000001&indx=1&recIds=ETOCvdc_100176634089.0x000001

Genotypic and Phenotypic Spectrum of Foveal Hypoplasia

Authors: Kuht, Helen J., Maconachie, Gail D.E., Han, Jinu, Kessel, Line, van Genderen, Maria M., McLean, Rebecca J., Hisaund, Michael, Tu, Zhanhan, Hertle, Richard W., Gronskov, Karen, Bai, Dayong, Wei, Aihua, Li, Wei, Jiao, Yonghong, Smirnov, Vasily, Choi, Jae-Hwan, Tobin, Martin D., Sheth, Viral, Purohit, Ravi, Dawar, Basu, Girach, Ayesha, Strul, Sasha, May, Laura, Chen, Fred K., Heath Jeffery, Rachael C., Aamir, Abdullah, Sano, Ronaldo, Jin, Jing, Brooks, Brian P., Kohl, Susanne, Arveiler, Benoit, Montoliu, Lluis, Engle, Elizabeth C., Proudlock, Frank A., Nishad, Garima, Pani, Prateek, Varma, Girish, Gottlob, Irene, Thomas, Mervyn G.

Source: Ophthalmology. 129(6):708-718

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100163689862.0x000001&indx=1&recIds=ETOCvdc_100163689862.0x000001

Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia

Authors: Solaki, Maria, Baumann, Britta, Reuter, Peggy, Andreasson, Sten, Audo, Isabelle, Ayuso, Carmen, Balousha, Ghassan, Benedicenti, Francesco, Birch, David, Bitoun, Pierre, Blain, Delphine, Bocquet, Beatrice, Branham, Kari, Català‐Mora, Jaume, De Baere, Elfride, Dollfus, Helene, Falana, Mohammed, Giorda, Roberto, Golovleva, Irina, Gottlob, Irene, Heckenlively, John R., Jacobson, Samuel G., Jones, Kaylie, Jägle, Herbert, Janecke, Andreas R., Kellner, Ulrich, Liskova, Petra, Lorenz, Birgit, Martorell‐Sampol, Loreto, Messias, André, Meunier, Isabelle, Belga Ottoni Porto, Fernanda, Papageorgiou, Eleni, Plomp, Astrid S., Ravel, Thomy J. L., Reiff, Charlotte M., Renner, Agnes B., Rosenberg, Thomas, Rudolph, Günther, Salati, Roberto, Sener, E. Cumhur, Sieving, Paul A., Stanzial, Franco, Traboulsi, Elias I., Tsang, Stephen H., Varsanyi, Balázs, Weleber, Richard G., Zobor, Ditta, Stingl, Katarina, Wissinger, Bernd, Kohl, Susanne

Source: Human mutation. 43(7):832-858

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100153791617.0x000001&indx=1&recIds=ETOCvdc_100153791617.0x000001

Short term morphological rescue of the fovea after gene therapy with voretigene neparvovec

Authors: Kortüm, Friederike C., Kempf, Melanie, Jung, Ronja, Kohl, Susanne, Ott, Saskia, Kortuem, Constanze, Sting, Krunoslav, Stingl, Katarina

Source: Acta ophthalmologica. 100(3):e807-e812

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100146698964.0x000001&indx=1&recIds=ETOCvdc_100146698964.0x000001

Disease expression caused by different variants in the BEST1 gene: genotype and phenotype findings in bestrophinopathies

Authors: Nowomiejska, Katarzyna, Nasser, Fadi, Stingl, Katarina, Schimpf‐Linzenbold, Simone, Biskup, Saskia, Brzozowska, Agnieszka, Rejdak, Robert, Kohl, Susanne, Zrenner, Eberhart

Source: Acta ophthalmologica. 100(3):e847-e858

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100146698753.0x000001&indx=1&recIds=ETOCvdc_100146698753.0x000001

Structural changes to primary visual cortex in the congenital absence of cone input in achromatopsia

Authors: Molz, Barbara, Herbik, Anne, Baseler, Heidi A., de Best, Pieter B., Vernon, Richard W., Raz, Noa, Gouws, Andre D., Ahmadi, Khazar, Lowndes, Rebecca, McLean, Rebecca J., Gottlob, Irene, Kohl, Susanne, Choritz, Lars, Maguire, John, Kanowski, Martin, Käsmann-Kellner, Barbara, Wieland, Ilse, Banin, Eyal, Levin, Netta, Hoffmann, Michael B., Morland, Antony B.

Source: In NeuroImage: Clinical 2022 33

KCNV2-Associated Retinopathy: Detailed Retinal Phenotype and Structural Endpoints—KCNV2 Study Group Report 2

Authors: Georgiou, Michalis, Fujinami, Kaoru, Vincent, Ajoy, Nasser, Fadi, Khateb, Samer, Vargas, Mauricio E., Thiadens, Alberta A.H.J., de Carvalho, Emanuel R., Nguyen, Xuan-Thanh-An, De Guimarães, Thales Antônio Cabral, Robson, Anthony G., Mahroo, Omar A., Pontikos, Nikolas, Arno, Gavin, Fujinami-Yokokawa, Yu, Leo, Shaun Michael, Liu, Xiao, Tsunoda, Kazushige, Hayashi, Takaaki, Jimenez-Rolando, Belen, Martin-Merida, Maria Inmaculada, Avila-Fernandez, Almudena, Carreño, Ester, Garcia-Sandoval, Blanca, Ayuso, Carmen, Sharon, Dror, Kohl, Susanne, Huckfeldt, Rachel M., Boon, Camiel J.F., Banin, Eyal, Pennesi, Mark E., Wissinger, Bernd, Webster, Andrew R., Héon, Elise, Khan, Arif O., Zrenner, Eberhart, Michaelides, Michel

Source: In American Journal of Ophthalmology October 2021 230:1-11

Identification of Chemical and Pharmacological Chaperones for Correction of Trafficking-Deficient Mutant Cyclic Nucleotide–Gated A3 Channels

Authors: Täger, Joachim ¹, Wissinger, Bernd, Kohl, Susanne, Reuter, Peggy ^*

Source: In Molecular Pharmacology June 2021 99(6):460-468

KCNV2-Associated Retinopathy: Genetics, Electrophysiology, and Clinical Course—KCNV2 Study Group Report 1

Authors: Georgiou, Michalis, Robson, Anthony G., Fujinami, Kaoru, Leo, Shaun M., Vincent, Ajoy, Nasser, Fadi, Cabral De Guimarães, Thales Antônio, Khateb, Samer, Pontikos, Nikolas, Fujinami-Yokokawa, Yu, Liu, Xiao, Tsunoda, Kazushige, Hayashi, Takaaki, Vargas, Mauricio E., Thiadens, Alberta A.H.J., de Carvalho, Emanuel R., Nguyen, Xuan-Thanh-An, Arno, Gavin, Mahroo, Omar A., Martin-Merida, Maria Inmaculada, Jimenez-Rolando, Belen, Gordo, Gema, Carreño, Ester, Ayuso, Carmen, Sharon, Dror, Kohl, Susanne, Huckfeldt, Rachel M., Wissinger, Bernd, Boon, Camiel J.F., Banin, Eyal, Pennesi, Mark E., Khan, Arif O., Webster, Andrew R., Zrenner, Eberhart, Héon, Elise, Michaelides, Michel

Source: In American Journal of Ophthalmology May 2021 225:95-107

Visual and ocular findings in a family with X-linked cone dysfunction and protanopia

Authors: Holmquist, Dag, Epstein, David, Olsson, Monica, Wissinger, Bernd, Kohl, Susanne, Hengstler, Jürg, Tear-Fahnehjelm, Kristina

Source: Ophthalmic genetics. 42(5):570-576

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100129293423.0x000001&indx=1&recIds=ETOCvdc_100129293423.0x000001

CNGB1‐related rod‐cone dystrophy: A mutation review and update

Authors: Nassisi, Marco, Smirnov, Vasily M., Solis Hernandez, Cyntia, Mohand‐Saïd, Saddek, Condroyer, Christel, Antonio, Aline, Kühlewein, Laura, Kempf, Melanie, Kohl, Susanne, Wissinger, Bernd, Nasser, Fadi, Ragi, Sara D., Wang, Nan‐Kai, Sparrow, Janet R., Greenstein, Vivienne C., Michalakis, Stylianos, Mahroo, Omar A., Ba‐Abbad, Rola, Michaelides, Michel, Webster, Andrew R., Degli Esposti, Simona, Saffren, Brooke, Capasso, Jenina, Levin, Alex, Hauswirth, William W., Dhaenens, Claire‐Marie, Defoort‐Dhellemmes, Sabine, Tsang, Stephen H., Zrenner, Eberhart, Sahel, Jose‐Alain, Petersen‐Jones, Simon M., Zeitz, Christina, Audo, Isabelle

Source: Human mutation. 42(6):641-666

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100121065444.0x000001&indx=1&recIds=ETOCvdc_100121065444.0x000001

Clinical Protocols for the Evaluation of Rod Function

Authors: Stingl, Krunoslav, Stingl, Katarina, Nowomiejska, Katarzyna, Kuehlewein, Laura, Kohl, Susanne, Kempf, Melanie, Strasser, Torsten, Jung, Ronja, Wilhelm, Barbara, Peters, Tobias, Kelbsch, Carina, Bartz-Schmidt, Karl Ulrich, Langrova, Hana, Zrenner, Eberhart

Source: Ophthalmologica. 244(5):396-407

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100132815933.0x000001&indx=1&recIds=ETOCvdc_100132815933.0x000001

Räumliche und zeitliche Auflösung der Wiederherstellungsdynamik der Photorezeptoren nach Behandlung mit Voretigen Neparvovec

Authors: Stingl, Krunoslav, Kempf, Melanie, Bartz-Schmidt, Karl U., Dimopoulos, Spyridon, Reichel, Felix, Jung, Ronja, Kelbsch, Carina, Kohl, Susanne, Körtum, Friederike Charlotte, Nasser, Fadi, Peters, Tobias, Wilhelm, Barbara, Wissinger, Bernd, Wozar, Fabian, Zrenner, Eberhart, Fischer, M. Dominik, Stingl, Katarina

Source: Karger Kompass.Ophthalmologie. 7(3):154-163

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100129220807.0x000001&indx=1&recIds=ETOCvdc_100129220807.0x000001