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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Photoreceptor Progenitor mRNA Analysis Reveals Exon Skipping Resulting from the ABCA4 c.5461-10T→C Mutation in Stargardt Disease
Sangermano, Riccardo, MSc, Bax, Nathalie M., MD, Bauwens, Miriam, MSc, van den Born, L. Ingeborgh, MD, PhD, De Baere, Elfride, MD, PhD, Garanto, Alejandro, PhD, Collin, Rob W.J., PhD, Goercharn-Ramlal, Angelique S.A., PhD, den Engelsman-van Dijk, Anke H.A., BSc, Rohrschneider, Klaus, MD, PhD, Hoyng, Carel B., MD, PhD, Cremers, Frans P.M., PhD, Albert, Silvia, PhD
Published in Ophthalmology (Rochester, Minn.) (01.06.2016)
Published in Ophthalmology (Rochester, Minn.) (01.06.2016)
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Journal Article
Detailed Phenotyping and Therapeutic Strategies for Intronic ABCA4 Variants in Stargardt Disease
Khan, Mubeen, Arno, Gavin, Fakin, Ana, Parfitt, David A., Dhooge, Patty P.A., Albert, Silvia, Bax, Nathalie M., Duijkers, Lonneke, Niblock, Michael, Hau, Kwan L., Bloch, Edward, Schiff, Elena R., Piccolo, Davide, Hogden, Michael C., Hoyng, Carel B., Webster, Andrew R., Cremers, Frans P.M., Cheetham, Michael E., Garanto, Alejandro, Collin, Rob W.J.
Published in Molecular therapy. Nucleic acids (04.09.2020)
Published in Molecular therapy. Nucleic acids (04.09.2020)
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Journal Article
Generation of an iPSC line (RMCGENi020-A) from a patient with Stargardt disease harboring the recurrent intronic ABCA4 variant c.4253+43G>A
Suárez-Herrera, Nuria, Leijsten, Nico, Albert, Silvia, Bax, Nathalie M, Hoyng, Carel B, Cremers, Frans P M, Garanto, Alejandro, Collin, Rob W J
Published in Stem cell research (01.12.2023)
Published in Stem cell research (01.12.2023)
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Generation of induced pluripotent stem cell line (UCSFi001-A-77) carrying a biallelic frameshift variant in exon 4 of SGIP1 through CRISPR/Cas9
Fatima, Neelam, Dillen, Lieke, Hommersom, Marina P., Çepni, Ece, Fatima, Fareeha, van Beusekom, Ellen, Albert, Silvia, Ali Khan, Asma, de Brouwer, Arjan P.M., van Bokhoven, Hans
Published in Stem cell research (01.10.2024)
Published in Stem cell research (01.10.2024)
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Generation of induced pluripotent stem cell lines from two unrelated patients affected by intellectual disability carrying homozygous variants in SGIP1
Dillen, Lieke, Fatima, Neelam, Hommersom, Marina P., Çepni, Ece, Fatima, Fareeha, van Beusekom, Ellen, Albert, Silvia, van Hagen, Johanna M., de Vries, Bert B.A., Khan, Asma Ali, de Brouwer, Arjan P.M., van Bokhoven, Hans
Published in Stem cell research (01.06.2024)
Published in Stem cell research (01.06.2024)
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Generation and characterization of human induced pluripotent stem cells (iPSCs) from three patients with age-related macular degeneration carrying rare variants in the CFH gene
Koolen, Louet, Gagliardi, Giuliana, ten Brink, Sofie C.A., de Breuk, Anita, Heesterbeek, Thomas J., Hoyng, Carel B., Albert, Silvia, den Hollander, Anneke I.
Published in Stem cell research (01.04.2022)
Published in Stem cell research (01.04.2022)
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Generation of an iPSC line (SCTCi014-A) and isogenic control line (SCTCi014-A-1) from an age-related macular degeneration patient carrying the variant c.355G>A in the CFI gene
de Jong, Sarah, Koolen, Louet, Vázquez-Domínguez, Irene, de Breuk, Anita, Albert, Silvia, Hoyng, Carel B., Katti, Suresh, den Hollander, Anneke I., Garanto, Alejandro
Published in Stem cell research (01.07.2022)
Published in Stem cell research (01.07.2022)
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Generation of an iPSC line (SCTCi015-A) and isogenic control line (SCTCi015-A-1) from an age-related macular degeneration patient carrying the variant c.355G>A in the CFI gene
de Jong, Sarah, Koolen, Louet, Vázquez-Domínguez, Irene, de Breuk, Anita, Albert, Silvia, Hoyng, Carel B., Katti, Suresh, den Hollander, Anneke I., Garanto, Alejandro
Published in Stem cell research (01.07.2022)
Published in Stem cell research (01.07.2022)
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Generation of induced pluripotent stem cell lines carrying monoallelic (UCSFi001-A-60) or biallelic (UCSFi001-A-61; UCSFi001-A-62) frameshift variants in CACNA1A using CRISPR/Cas9
Hommersom, Marina P., Bijnagte-Schoenmaker, Chantal, Albert, Silvia, van de Warrenburg, Bart P.C., Nadif Kasri, Nael, van Bokhoven, Hans
Published in Stem cell research (01.05.2022)
Published in Stem cell research (01.05.2022)
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Journal Article
Generation of a patient-derived induced pluripotent cell line (SCTCi016-A) carrying a homozygous variant in RPE65
Vázquez-Domínguez, Irene, Kwint, Michael, Kroes, Hester Y, Albert, Silvia, O'Gorman, Luke, Gilissen, Christian, Cremers, Frans P.M., Collin, Rob W.J., Roosing, Susanne, Garanto, Alejandro
Published in Stem cell research (01.04.2022)
Published in Stem cell research (01.04.2022)
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Journal Article
Generation and characterization of human induced pluripotent stem cells (iPSCs) from three individuals without age-related macular degeneration
Koolen, Louet, Gagliardi, Giuliana, ten Brink, Sofie C.A., de Breuk, Anita, Heesterbeek, Thomas J., Hoyng, Carel B., Albert, Silvia, den Hollander, Anneke I.
Published in Stem cell research (01.04.2022)
Published in Stem cell research (01.04.2022)
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Comparative study of human embryonic stem cells (hESC) and human induced pluripotent stem cells (hiPSC) as a treatment for retinal dystrophies
Riera, Marina, Fontrodona, Laura, Albert, Silvia, Ramirez, Diana Mora, Seriola, Anna, Salas, Anna, Muñoz, Yolanda, Ramos, David, Villegas-Perez, Maria Paz, Zapata, Miguel Angel, Raya, Angel, Ruberte, Jesus, Veiga, Anna, Garcia-Arumi, Jose
Published in Molecular therapy. Methods & clinical development (01.01.2016)
Published in Molecular therapy. Methods & clinical development (01.01.2016)
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Antisense oligonucleotide-based treatment of retinitis pigmentosa caused by USH2A exon 13 mutations
Dulla, Kalyan, Slijkerman, Ralph, van Diepen, Hester C., Albert, Silvia, Dona, Margo, Beumer, Wouter, Turunen, Janne J., Chan, Hee Lam, Schulkens, Iris A., Vorthoren, Lars, den Besten, Cathaline, Buil, Levi, Schmidt, Iris, Miao, Jiayi, Venselaar, Hanka, Zang, Jingjing, Neuhauss, Stephan C.F., Peters, Theo, Broekman, Sanne, Pennings, Ronald, Kremer, Hannie, Platenburg, Gerard, Adamson, Peter, de Vrieze, Erik, van Wijk, Erwin
Published in Molecular therapy (04.08.2021)
Published in Molecular therapy (04.08.2021)
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Journal Article
Identification and Rescue of Splice Defects Caused by Two Neighboring Deep-Intronic ABCA4 Mutations Underlying Stargardt Disease
Albert, Silvia, Garanto, Alejandro, Sangermano, Riccardo, Khan, Mubeen, Bax, Nathalie M., Hoyng, Carel B., Zernant, Jana, Lee, Winston, Allikmets, Rando, Collin, Rob W.J., Cremers, Frans P.M.
Published in American journal of human genetics (05.04.2018)
Published in American journal of human genetics (05.04.2018)
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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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Journal Article
Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa
de Bruijn, Suzanne E., Fiorentino, Alessia, Ottaviani, Daniele, Fanucchi, Stephanie, Melo, Uirá S., Corral-Serrano, Julio C., Mulders, Timo, Georgiou, Michalis, Rivolta, Carlo, Pontikos, Nikolas, Arno, Gavin, Roberts, Lisa, Greenberg, Jacquie, Albert, Silvia, Gilissen, Christian, Aben, Marco, Rebello, George, Mead, Simon, Raymond, F. Lucy, Corominas, Jordi, Smith, Claire E.L., Kremer, Hannie, Downes, Susan, Black, Graeme C., Webster, Andrew R., Inglehearn, Chris F., van den Born, L. Ingeborgh, Koenekoop, Robert K., Michaelides, Michel, Ramesar, Raj S., Hoyng, Carel B., Mundlos, Stefan, Mhlanga, Musa M., Cremers, Frans P.M., Cheetham, Michael E., Roosing, Susanne, Hardcastle, Alison J.
Published in American journal of human genetics (05.11.2020)
Published in American journal of human genetics (05.11.2020)
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