Systemic complement activation levels in Stargardt disease von Dhooge, Patty P. A., Runhart, Esmee H., Li, Catherina H. Z., Angelino, Corrie M. de Kat, Hoyng, Carel B., van der Molen, Renate G., den Hollander, Anneke

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Usher syndrome type IV: clinically and molecularly confirmed by novel ARSG variants von Velde, Hedwig M., Reurink, Janine, Held, Sebastian, Li, Catherina H. Z., Yzer, Suzanne, Oostrik, Jaap, Weeda, Jack, Haer-Wigman, Lonneke, Yntema, Helger G., Roosing, Susanne, Pauleikhoff, Laurenz, Lange, Clemens, Whelan, Laura, Dockery, Adrian, Zhu, Julia, Keegan, David J., Farrar, G. Jane, Kremer, Hannie, Lanting, Cornelis P., Damme, Markus, Pennings, Ronald J. E.

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Scrutinizing pathogenicity of the USH2A c.2276 G > T; p.(Cys759Phe) variant von Reurink, Janine, de Vrieze, Erik, Li, Catherina H. Z., van Berkel, Emma, Broekman, Sanne, Aben, Marco, Peters, Theo, Oostrik, Jaap, Neveling, Kornelia, Venselaar, Hanka, Ramos, Mariana Guimarães, Gilissen, Christian, Astuti, Galuh D. N., Galbany, Jordi Corominas, van Lith-Verhoeven, Janneke J. C., Ockeloen, Charlotte W., Haer-Wigman, Lonneke, Hoyng, Carel B., Cremers, Frans P. M., Kremer, Hannie, Roosing, Susanne, van Wijk, Erwin

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Is arterial stiffness in the carotid artery associated with choroidal thinning in patients with pseudoxanthoma elasticum or controls? von Risseeuw, Sara, Bartstra, Jonas, Ossewaarde – van Norel, Jeannette, Geurts, Lennart J., Li, Catherina H.Z., Imhof, Saskia M., Spiering, Wilko, Jong, Pim A., Leeuwen, Redmer

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Preclinical Development of Antisense Oligonucleotides to Rescue Aberrant Splicing Caused by an Ultrarare ABCA4 Variant in a Child with Early-Onset Stargardt Disease von Suárez-Herrera, Nuria, Li, Catherina H Z, Leijsten, Nico, Karjosukarso, Dyah W, Corradi, Zelia, Bukkems, Femke, Duijkers, Lonneke, Cremers, Frans P M, Hoyng, Carel B, Garanto, Alejandro, Collin, Rob W J

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Identification of a Complex Allele in IMPG2 as a Cause of Adult-Onset Vitelliform Macular Dystrophy von Vázquez-Domínguez, Irene, Li, Catherina H Z, Fadaie, Zeinab, Haer-Wigman, Lonneke, Cremers, Frans P M, Garanto, Alejandro, Hoyng, Carel B, Roosing, Susanne

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Study of Late-Onset Stargardt Type 1 Disease: Characteristics, Genetics, and Progression von Li, Catherina H Z, Pas, Jeroen A A H, Corradi, Zelia, Hitti-Malin, Rebekkah J, Hoogstede, Anne, Runhart, Esmee H, Dhooge, Patty P A, Collin, Rob W J, Cremers, Frans P M, Hoyng, Carel B

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The Phenotypic Spectrum of Patients with PHARC Syndrome Due to Variants in ABHD12: An Ophthalmic Perspective von Xuan-Thanh-An Nguyen, Almushattat, Hind, Strubbe, Ine, Georgiou, Michalis, Li, Catherina H. Z., van Schooneveld, Mary J., Joniau, Inge, De Baere, Elfride, Florijn, Ralph J., Bergen, Arthur A., Hoyng, Carel B., Michaelides, Michel, Leroy, Bart P., Boon, Camiel J. F.

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Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes von Hitti-Malin, Rebekkah J, Panneman, Daan M, Corradi, Zelia, Boonen, Erica G M, Astuti, Galuh, Dhaenens, Claire-Marie, Stöhr, Heidi, Weber, Bernhard H F, Sharon, Dror, Banin, Eyal, Karali, Marianthi, Banfi, Sandro, Ben-Yosef, Tamar, Glavač, Damjan, Farrar, G Jane, Ayuso, Carmen, Liskova, Petra, Dudakova, Lubica, Vajter, Marie, Ołdak, Monika, Szaflik, Jacek P, Matynia, Anna, Gorin, Michael B, Kämpjärvi, Kati, Bauwens, Miriam, De Baere, Elfride, Hoyng, Carel B, Li, Catherina H Z, Klaver, Caroline C W, Inglehearn, Chris F, Fujinami, Kaoru, Rivolta, Carlo, Allikmets, Rando, Zernant, Jana, Lee, Winston, Podhajcer, Osvaldo L, Fakin, Ana, Sajovic, Jana, AlTalbishi, Alaa, Valeina, Sandra, Taurina, Gita, Vincent, Andrea L, Roberts, Lisa, Ramesar, Raj, Sartor, Giovanna, Luppi, Elena, Downes, Susan M, van den Born, L Ingeborgh, McLaren, Terri L, De Roach, John N, Lamey, Tina M, Thompson, Jennifer A, Chen, Fred K, Tracewska, Anna M, Kamakari, Smaragda, Sallum, Juliana Maria Ferraz, Bolz, Hanno J, Kayserili, Hülya, Roosing, Susanne, Cremers, Frans P M

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Biallelic variants in coenzyme Q10 biosynthesis pathway genes cause a retinitis pigmentosa phenotype von Jurkute, Neringa, Cancellieri, Francesca, Pohl, Lisa, Li, Catherina H. Z., Heaton, Robert A., Reurink, Janine, Bellingham, James, Quinodoz, Mathieu, Yioti, Georgia, Stefaniotou, Maria, Weener, Marianna, Zuleger, Theresia, Haack, Tobias B., Stingl, Katarina, Hoyng, Carel B., Mahroo, Omar A., Hargreaves, Iain, Raymond, F. Lucy, Michaelides, Michel, Rivolta, Carlo, Kohl, Susanne, Roosing, Susanne, Webster, Andrew R., Arno, Gavin

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

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Is arterial stiffness in the carotid artery associated with choroidal thinning in patients with pseudoxanthoma elasticum or controls? von Risseeuw, Sara, Bartstra, Jonas, Ossewaarde-van Norel, Jeannette, Geurts, Lennart J, Li, Catherina H Z, Imhof, Saskia M, Spiering, Wilko, de Jong, Pim A, van Leeuwen, Redmer

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Preclinical Development of Antisense Oligonucleotides to Rescue Aberrant Splicing Caused by an Ultrarare IABCA4/I Variant in a Child with Early-Onset Stargardt Disease von Suárez-Herrera, Nuria, Li, Catherina H. Z, Leijsten, Nico, Karjosukarso, Dyah W, Corradi, Zelia, Bukkems, Femke, Duijkers, Lonneke, Cremers, Frans P. M, Hoyng, Carel B, Garanto, Alejandro, Collin, Rob W. J

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The phenotypic spectrum of patients with PHARC syndrome due to variants in ABHD12 : an ophthalmic perspective von Nguyen, Xuan-Thanh-An, Almushattat, Hind, Strubbe, Ine, Georgiou, Michalis, Li, Catherina H. Z, van Schooneveld, Mary J, Joniau, Inge, De Baere, Elfride, Florijn, Ralph J, Bergen, Arthur A, Hoyng, Carel B, Michaelides, Michel, Leroy, Bart, Boon, Camiel J. F

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Towards uncovering the role of incomplete penetrance in maculopathies through sequencing of 105 disease-associated genes von Hitti-Malin, Rebekkah J, Panneman, Daan M, Corradi, Zelia, Boonen, Erica G. M, Astuti, Galuh, Dhaenens, Claire-Marie, Stoehr, Heidi, Weber, Bernhard H. F, Sharon, Dror, Banin, Eyal, Karali, Marianthi, Banfi, Sandro, Ben-Yosef, Tamar, Glavac, Damjan, Farrar, G. Jane, Ayuso, Carmen, Liskova, Petra, Dudakova, Lubica, Vajter, Marie, Oldak, Monika, Szaflik, Jacek P, Matynia, Anna, Gorin, Michael B, Kaempjaervi, Kati, Bauwens, Miriam, De Baere, Elfride, Hoyng, Carel B, Li, Catherina H. Z, Klaver, Caroline C. W, Inglehearn, Chris F, Fujinami, Kaoru, Rivolta, Carlo, Allikmets, Rando, Zernant, Jana, Lee, Winston, Podhajcer, Osvaldo L, Fakin, Ana, Sajovic, Jana, Altalbishi, Alaa, Valeina, Sandra, Taurina, Gita, Vincent, Andrea L, Roberts, Lisa, Ramesar, Raj, Sartor, Giovanna, Luppi, Elena, Downes, Susan M, van den Born, L. Ingeborgh, Mclaren, Terri L, De Roach, John N, Lamey, Tina M, Thompson, Jennifer A, Chen, Fred K, Tracewska, Anna M, Kamakari, Smaragda, Sallum, Juliana Maria Ferraz, Bolz, Hanno J, Kayserili, Huelya, Roosing, Susanne, Cremers, Frans P. M

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Biallelic variants in coenzyme Q10 biosynthesis pathway genes cause a retinitis pigmentosa phenotype von Jurkute, Neringa, Cancellieri, Francesca, Pohl, Lisa, Li, Catherina HZ, Heaton, Robert A, Reurink, Janine, Bellingham, James, Quinodoz, Mathieu, Yioti, Georgia, Stefaniotou, Maria, Weener, Marianna, Zuleger, Theresia, Haack, Tobias B, Stingl, Katarina, Genomics England Research Consortium, Hoyng, Carel B, Mahroo, Omar A, Hargreaves, Iain, Raymond, F Lucy, Michaelides, Michel, Rivolta, Carlo, Kohl, Susanne, Roosing, Susanne, Webster, Andrew R, Arno, Gavin

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Biallelic variants in coenzyme Q10 biosynthesis pathway genes cause a retinitis pigmentosa phenotype von Jurkute, Neringa, Cancellieri, Francesca, Pohl, Lisa, Li, Catherina HZ, Heaton, Robert A, Reurink, Janine, Bellingham, James, Quinodoz, Mathieu, Yioti, Georgia, Stefaniotou, Maria, Weener, Marianna, Zuleger, Theresia, Haack, Tobias B, Stingl, Katarina, Genomics England Research Consortium, Hoyng, Carel B, Mahroo, Omar A, Hargreaves, Iain, Raymond, F Lucy, Michaelides, Michel, Rivolta, Carlo, Kohl, Susanne, Roosing, Susanne, Webster, Andrew R, Arno, Gavin

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Biallelic variants in coenzyme Q10 biosynthesis pathway genes cause a retinitis pigmentosa phenotype von Jurkute, Neringa, Cancellieri, Francesca, Pohl, Lisa, Li, Catherina HZ, Heaton, Robert A, Reurink, Janine, Bellingham, James, Quinodoz, Mathieu, Yioti, Georgia, Stefaniotou, Maria, Weener, Marianna, Zuleger, Theresia, Haack, Tobias B, Stingl, Katarina, Genomics England Research Consortium, Hoyng, Carel B, Mahroo, Omar A, Hargreaves, Iain, Raymond, F Lucy, Michaelides, Michel, Rivolta, Carlo, Kohl, Susanne, Roosing, Susanne, Webster, Andrew R, Arno, Gavin

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