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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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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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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Intein-mediated protein trans-splicing expands adeno-associated virus transfer capacity in the retina
Tornabene, Patrizia, Trapani, Ivana, Minopoli, Renato, Centrulo, Miriam, Lupo, Mariangela, de Simone, Sonia, Tiberi, Paola, Dell'Aquila, Fabio, Marrocco, Elena, Iodice, Carolina, Iuliano, Antonella, Gesualdo, Carlo, Rossi, Settimio, Giaquinto, Laura, Albert, Silvia, Hoyng, Carel B, Polishchuk, Elena, Cremers, Frans P M, Surace, Enrico M, Simonelli, Francesca, De Matteis, Maria A, Polishchuk, Roman, Auricchio, Alberto
Published in Science translational medicine (15.05.2019)
Published in Science translational medicine (15.05.2019)
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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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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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Journal Article
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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Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia
Kohl, Susanne, Zobor, Ditta, Chiang, Wei-Chieh, Weisschuh, Nicole, Staller, Jennifer, Menendez, Irene Gonzalez, Chang, Stanley, Beck, Susanne C, Garrido, Marina Garcia, Sothilingam, Vithiyanjali, Seeliger, Mathias W, Stanzial, Franco, Benedicenti, Francesco, Inzana, Francesca, Héon, Elise, Vincent, Ajoy, Beis, Jill, Strom, Tim M, Rudolph, Günther, Roosing, Susanne, Hollander, Anneke I den, Cremers, Frans P M, Lopez, Irma, Ren, Huanan, Moore, Anthony T, Webster, Andrew R, Michaelides, Michel, Koenekoop, Robert K, Zrenner, Eberhart, Kaufman, Randal J, Tsang, Stephen H, Wissinger, Bernd, Lin, Jonathan H
Published in Nature genetics (01.07.2015)
Published in Nature genetics (01.07.2015)
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Non-syndromic retinal ciliopathies: translating gene discovery into therapy
ESTRADA-CUZCANO, Alejandro, ROEPMAN, Ronald, CREMERS, Frans P. M, DEN HOLLANDER, Anneke I, MANS, Dorus A
Published in Human molecular genetics (15.10.2012)
Published in Human molecular genetics (15.10.2012)
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A nationwide genetic analysis of inherited retinal diseases in Israel as assessed by the Israeli inherited retinal disease consortium (IIRDC)
Sharon, Dror, Ben‐Yosef, Tamar, Goldenberg‐Cohen, Nitza, Pras, Eran, Gradstein, Libe, Soudry, Shiri, Mezer, Eedy, Zur, Dinah, Abbasi, Anan H., Zeitz, Christina, Cremers, Frans P. M., Khan, Muhammad I., Levy, Jaime, Rotenstreich, Ygal, Birk, Ohad S., Ehrenberg, Miriam, Leibu, Rina, Newman, Hadas, Shomron, Noam, Banin, Eyal, Perlman, Ido
Published in Human mutation (01.01.2020)
Published in Human mutation (01.01.2020)
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Journal Article
Antisense Oligonucleotide-Based Rescue of Aberrant Splicing Defects Caused by 15 Pathogenic Variants in ABCA4
Tomkiewicz, Tomasz Z, Suárez-Herrera, Nuria, Cremers, Frans P M, Collin, Rob W J, Garanto, Alejandro
Published in International journal of molecular sciences (28.04.2021)
Published in International journal of molecular sciences (28.04.2021)
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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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Journal Article
ABCA4 midigenes reveal the full splice spectrum of all reported noncanonical splice site variants in Stargardt disease
Sangermano, Riccardo, Khan, Mubeen, Cornelis, Stéphanie S, Richelle, Valerie, Albert, Silvia, Garanto, Alejandro, Elmelik, Duaa, Qamar, Raheel, Lugtenberg, Dorien, van den Born, L Ingeborgh, Collin, Rob W J, Cremers, Frans P M
Published in Genome research (01.01.2018)
Published in Genome research (01.01.2018)
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Non-syndromic retinitis pigmentosa due to mutations in the mucopolysaccharidosis type IIIC gene, heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT)
Haer-Wigman, Lonneke, Newman, Hadas, Leibu, Rina, Bax, Nathalie M, Baris, Hagit N, Rizel, Leah, Banin, Eyal, Massarweh, Amir, Roosing, Susanne, Lefeber, Dirk J, Zonneveld-Vrieling, Marijke N, Isakov, Ofer, Shomron, Noam, Sharon, Dror, Den Hollander, Anneke I, Hoyng, Carel B, Cremers, Frans P M, Ben-Yosef, Tamar
Published in Human molecular genetics (01.07.2015)
Published in Human molecular genetics (01.07.2015)
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Journal Article
In Silico Functional Meta‐Analysis of 5,962 ABCA4 Variants in 3,928 Retinal Dystrophy Cases
Cornelis, Stéphanie S., Bax, Nathalie M., Zernant, Jana, Allikmets, Rando, Fritsche, Lars G., den Dunnen, Johan T., Ajmal, Muhammad, Hoyng, Carel B., Cremers, Frans P.M.
Published in Human mutation (01.04.2017)
Published in Human mutation (01.04.2017)
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Journal Article
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
ZNF408 is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculature
Collin, Rob W. J., Nikopoulos, Konstantinos, Dona, Margo, Gilissen, Christian, Hoischen, Alexander, Boonstra, F. Nienke, Poulter, James A., Kondo, Hiroyuki, Berger, Wolfgang, Toomes, Carmel, Tahira, Tomoko, Mohn, Lucas R., Blokland, Ellen A., Hetterschijt, Lisette, Ali, Manir, Groothuismink, Johanne M., Duijkers, Lonneke, Inglehearn, Chris F., Sollfrank, Lea, Strom, Tim M., Uchio, Eiichi, van Nouhuys, C. Erik, Kremer, Hannie, Veltman, Joris A., van Wijk, Erwin, Cremers, Frans P. M.
Published in Proceedings of the National Academy of Sciences - PNAS (11.06.2013)
Published in Proceedings of the National Academy of Sciences - PNAS (11.06.2013)
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