Retinal gene therapy in patients with choroideremia: initial findings from a phase 1/2 clinical trial
MacLaren, Robert E, Prof, Groppe, Markus, PhD, Barnard, Alun R, PhD, Cottriall, Charles L, PhD, Tolmachova, Tanya, PhD, Seymour, Len, Prof, Clark, K Reed, PhD, During, Matthew J, Prof, Cremers, Frans P M, Prof, Black, Graeme C M, Prof, Lotery, Andrew J, Prof, Downes, Susan M, FRCOphth, Webster, Andrew R, Prof, Seabra, Miguel C, Prof
Published in The Lancet (British edition) (29.03.2014)
Published in The Lancet (British edition) (29.03.2014)
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Journal Article
Molecular and clinical analysis of 27 German patients with Leber congenital amaurosis
Weisschuh, Nicole, Feldhaus, Britta, Khan, Muhammad Imran, Cremers, Frans P M, Kohl, Susanne, Wissinger, Bernd, Zobor, Ditta
Published in PloS one (21.12.2018)
Published in PloS one (21.12.2018)
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Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy
Karali, Marianthi, Testa, Francesco, Di Iorio, Valentina, Torella, Annalaura, Zeuli, Roberta, Scarpato, Margherita, Romano, Francesca, Onore, Maria Elena, Pizzo, Mariateresa, Melillo, Paolo, Brunetti-Pierri, Raffaella, Passerini, Ilaria, Pelo, Elisabetta, Cremers, Frans P. M., Esposito, Gabriella, Nigro, Vincenzo, Simonelli, Francesca, Banfi, Sandro
Published in Scientific reports (02.12.2022)
Published in Scientific reports (02.12.2022)
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QR-1011 restores defective ABCA4 splicing caused by multiple severe ABCA4 variants underlying Stargardt disease
Kaltak, Melita, de Bruijn, Petra, van Leeuwen, Willemijn, Platenburg, Gerard, Cremers, Frans P. M., Collin, Rob W. J., Swildens, Jim
Published in Scientific reports (06.01.2024)
Published in Scientific reports (06.01.2024)
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Novel and Recurrent Copy Number Variants in ABCA4 -Associated Retinopathy
Corradi, Zelia, Dhaenens, Claire-Marie, Grunewald, Olivier, Kocabaş, Ipek Selen, Meunier, Isabelle, Banfi, Sandro, Karali, Marianthi, Cremers, Frans P M, Hitti-Malin, Rebekkah J
Published in International journal of molecular sciences (29.05.2024)
Published in International journal of molecular sciences (29.05.2024)
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Journal Article
Oral 9-cis retinoid for childhood blindness due to Leber congenital amaurosis caused by RPE65 or LRAT mutations: an open-label phase 1b trial
Koenekoop, Robert K, Prof, Sui, Ruifang, MD, Sallum, Juliana, MD, van den Born, L Ingeborgh, MD, Ajlan, Radwan, MBBCh, Khan, Ayesha, MD, den Hollander, Anneke I, PhD, Cremers, Frans P M, Prof, Mendola, Janine D, PhD, Bittner, Ava K, OD/PhD, Dagnelie, Gislin, PhD, Schuchard, Ronald A, PhD, Saperstein, David A, MD
Published in The Lancet (British edition) (25.10.2014)
Published in The Lancet (British edition) (25.10.2014)
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Journal Article
Stargardt disease-associated in-frame ABCA4 exon 17 skipping results in significant ABCA4 function
Kaltak, Melita, Blanco-Garavito, Rocio, Molday, Laurie L, Dhaenens, Claire-Marie, Souied, Eric E, Platenburg, Gerard, Swildens, Jim, Molday, Robert S, Cremers, Frans P. M
Published in Journal of translational medicine (16.08.2023)
Published in Journal of translational medicine (16.08.2023)
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Detailed analysis of an enriched deep intronic ABCA4 variant in Irish Stargardt disease patients
Whelan, Laura, Dockery, Adrian, Stephenson, Kirk A. J., Zhu, Julia, Kopčić, Ella, Post, Iris J. M., Khan, Mubeen, Corradi, Zelia, Wynne, Niamh, O’ Byrne, James J., Duignan, Emma, Silvestri, Giuliana, Roosing, Susanne, Cremers, Frans P. M., Keegan, David J., Kenna, Paul F., Farrar, G. Jane
Published in Scientific reports (09.06.2023)
Published in Scientific reports (09.06.2023)
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Journal Article
AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis
den Hollander, Anneke I, Dallapiccola, Bruno, Ayuso, Carmen, Caridi, Gianluca, Brancati, Francesco, Kispert, Andreas, Gudiseva, Harini V, Louie, Carrie M, Koenekoop, Robert K, Ayyagari, Radha, Leitges, Michael, Lopez, Irma, Vallespin, Elena, Otto, Edgar A, Williams, David S, Lopes, Vanda S, Valente, Enza Maria, Gleeson, Joseph G, Lancaster, Madeline A, Cremers, Frans P M, Hildebrandt, Friedhelm, O'Toole, John F, Gröne, Hermann-Josef, Ghiggeri, Gian Marco, Schlossman, Andrew M
Published in Nature genetics (01.02.2010)
Published in Nature genetics (01.02.2010)
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Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome
Roepman, Ronald, Arts, Heleen H, Doherty, Dan, van Beersum, Sylvia E C, Parisi, Melissa A, Letteboer, Stef J F, Gorden, Nicholas T, Peters, Theo A, Märker, Tina, Voesenek, Krysta, Kartono, Aileen, Ozyurek, Hamit, Farin, Federico M, Kroes, Hester Y, Wolfrum, Uwe, Brunner, Han G, Cremers, Frans P M, Glass, Ian A, Knoers, Nine V A M
Published in Nature genetics (01.07.2007)
Published in Nature genetics (01.07.2007)
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Next-Generation Sequencing of a 40 Mb Linkage Interval Reveals TSPAN12 Mutations in Patients with Familial Exudative Vitreoretinopathy
Nikopoulos, Konstantinos, Gilissen, Christian, Hoischen, Alexander, Erik van Nouhuys, C., Boonstra, F. Nienke, Blokland, Ellen A.W., Arts, Peer, Wieskamp, Nienke, Strom, Tim M., Ayuso, Carmen, Tilanus, Mauk A.D., Bouwhuis, Sanne, Mukhopadhyay, Arijit, Scheffer, Hans, Hoefsloot, Lies H., Veltman, Joris A., Cremers, Frans P.M., Collin, Rob W.J.
Published in American journal of human genetics (12.02.2010)
Published in American journal of human genetics (12.02.2010)
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Journal Article
OFD1 Is Mutated in X-Linked Joubert Syndrome and Interacts with LCA5-Encoded Lebercilin
Coene, Karlien L.M., Roepman, Ronald, Doherty, Dan, Afroze, Bushra, Kroes, Hester Y., Letteboer, Stef J.F., Ngu, Lock H., Budny, Bartlomiej, van Wijk, Erwin, Gorden, Nicholas T., Azhimi, Malika, Thauvin-Robinet, Christel, Veltman, Joris A., Boink, Mireille, Kleefstra, Tjitske, Cremers, Frans P.M., van Bokhoven, Hans, de Brouwer, Arjan P.M.
Published in American journal of human genetics (09.10.2009)
Published in American journal of human genetics (09.10.2009)
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Journal Article
Whole genome sequencing and in vitro splice assays reveal genetic causes for inherited retinal diseases
Fadaie, Zeinab, Whelan, Laura, Ben-Yosef, Tamar, Dockery, Adrian, Corradi, Zelia, Gilissen, Christian, Haer-Wigman, Lonneke, Corominas, Jordi, Astuti, Galuh D. N., de Rooij, Laura, van den Born, L. Ingeborgh, Klaver, Caroline C. W., Hoyng, Carel B., Wynne, Niamh, Duignan, Emma S., Kenna, Paul F., Cremers, Frans P. M., Farrar, G. Jane, Roosing, Susanne
Published in Npj genomic medicine (18.11.2021)
Published in Npj genomic medicine (18.11.2021)
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Mutations in C8orf37, Encoding a Ciliary Protein, are Associated with Autosomal-Recessive Retinal Dystrophies with Early Macular Involvement
Estrada-Cuzcano, Alejandro, Neveling, Kornelia, Kohl, Susanne, Banin, Eyal, Rotenstreich, Ygal, Sharon, Dror, Falik-Zaccai, Tzipora C., Hipp, Stephanie, Roepman, Ronald, Wissinger, Bernd, Letteboer, Stef J.F., Mans, Dorus A., Blokland, Ellen A.W., Kwint, Michael P., Gijsen, Sabine J., van Huet, Ramon A.C., Collin, Rob W.J., Scheffer, H., Veltman, Joris A., Zrenner, Eberhart, den Hollander, Anneke I., Klevering, B. Jeroen, Cremers, Frans P.M.
Published in American journal of human genetics (13.01.2012)
Published in American journal of human genetics (13.01.2012)
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Journal Article
Homozygosity Mapping Reveals PDE6C Mutations in Patients with Early-Onset Cone Photoreceptor Disorders
Thiadens, Alberta A.H.J., den Hollander, Anneke I., Roosing, Susanne, Nabuurs, Sander B., Zekveld-Vroon, Renate C., Collin, Rob W.J., De Baere, Elfride, Koenekoop, Robert K., van Schooneveld, Mary J., Strom, Tim M., van Lith-Verhoeven, Janneke J.C., Lotery, Andrew J., van Moll-Ramirez, Norka, Leroy, Bart P., van den Born, L. Ingeborgh, Hoyng, Carel B., Cremers, Frans P.M., Klaver, Caroline C.W.
Published in American journal of human genetics (14.08.2009)
Published in American journal of human genetics (14.08.2009)
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Journal Article
Mutations in LCA5 , encoding the ciliary protein lebercilin, cause Leber congenital amaurosis
Mohamed, Moin D, Wolfrum, Uwe, Kersten, Ferry F J, Rashid, Yasmin, Arts, Heleen H, van Beersum, Sylvia E C, Ueffing, Marius, Boldt, Karsten, Lopez, Irma, Towns, Katherine V, Woods, C Geoff, McKibbin, Martin, Dharmaraj, Sharola, van Wijk, Erwin, Williams, Grange A, Maumenee, Irene H, Inglehearn, Chris F, Nagel-Wolfrum, Kerstin, Veltman, Joris A, Beer, Monika, Gosens, Ilse, Springell, Kelly, Roepman, Ronald, Ivings, Lenka, Strom, Tim M, Zonneveld, Marijke N, Koenekoop, Robert K, Sedmak, Tina, Jafri, Hussain, van der Zwaag, Bert, Cheetham, Michael E, Cremers, Frans P M, den Hollander, Anneke I
Published in Nature genetics (01.07.2007)
Published in Nature genetics (01.07.2007)
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Exome Sequencing and cis-Regulatory Mapping Identify Mutations in MAK, a Gene Encoding a Regulator of Ciliary Length, as a Cause of Retinitis Pigmentosa
Özgül, Rıza Köksal, Siemiatkowska, Anna M., Yücel, Didem, Myers, Connie A., Collin, Rob W.J., Zonneveld, Marijke N., Beryozkin, Avigail, Banin, Eyal, Hoyng, Carel B., van den Born, L. Ingeborgh, Bose, Ron, Shen, Wei, Sharon, Dror, Cremers, Frans P.M., Klevering, B. Jeroen, den Hollander, Anneke I., Corbo, Joseph C.
Published in American journal of human genetics (12.08.2011)
Published in American journal of human genetics (12.08.2011)
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Benchmarking deep learning splice prediction tools using functional splice assays
Riepe, Tabea V., Khan, Mubeen, Roosing, Susanne, Cremers, Frans P. M., 't Hoen, Peter A. C.
Published in Human mutation (01.07.2021)
Published in Human mutation (01.07.2021)
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Journal Article
Identification of a 2 Mb Human Ortholog of Drosophila eyes shut/spacemaker that Is Mutated in Patients with Retinitis Pigmentosa
Collin, Rob W.J., Littink, Karin W., Klevering, B. Jeroen, van den Born, L. Ingeborgh, Koenekoop, Robert K., Zonneveld, Marijke N., Blokland, Ellen A.W., Strom, Tim M., Hoyng, Carel B., den Hollander, Anneke I., Cremers, Frans P.M.
Published in American journal of human genetics (01.11.2008)
Published in American journal of human genetics (01.11.2008)
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