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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Journal Article
Identification of Inherited Retinal Disease-Associated Genetic Variants in 11 Candidate Genes
Astuti, Galuh D N, van den Born, L Ingeborgh, Khan, M Imran, Hamel, Christian P, Bocquet, Béatrice, Manes, Gaël, Quinodoz, Mathieu, Ali, Manir, Toomes, Carmel, McKibbin, Martin, El-Asrag, Mohammed E, Haer-Wigman, Lonneke, Inglehearn, Chris F, Black, Graeme C M, Hoyng, Carel B, Cremers, Frans P M, Roosing, Susanne
Published in Genes (10.01.2018)
Published in Genes (10.01.2018)
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Journal Article
Scrutinizing pathogenicity of the USH2A c.2276 G > T; p.(Cys759Phe) variant
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
Published in Npj genomic medicine (07.06.2022)
Published in Npj genomic medicine (07.06.2022)
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Journal Article
Novel insights into the molecular pathogenesis of CYP4V2‐associated Bietti's retinal dystrophy
Astuti, Galuh D. N., Sun, Vincent, Bauwens, Miriam, Zobor, Ditta, Leroy, Bart P., Omar, Amer, Jurklies, Bernhard, Lopez, Irma, Ren, Huanan, Yazar, Volkan, Hamel, Christian, Kellner, Ulrich, Wissinger, Bernd, Kohl, Susanne, De Baere, Elfride, Collin, Rob W. J., Koenekoop, Robert K.
Published in Molecular genetics & genomic medicine (01.01.2015)
Published in Molecular genetics & genomic medicine (01.01.2015)
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Journal Article
The pros and cons of vertebrate animal models for functional and therapeutic research on inherited retinal dystrophies
Slijkerman, Ralph W.N., Song, Fei, Astuti, Galuh D.N., Huynen, Martijn A., van Wijk, Erwin, Stieger, Knut, Collin, Rob W.J.
Published in Progress in retinal and eye research (01.09.2015)
Published in Progress in retinal and eye research (01.09.2015)
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Journal Article
Comprehensive genotyping reveals RPE65 as the most frequently mutated gene in Leber congenital amaurosis in Denmark
Astuti, Galuh D N, Bertelsen, Mette, Preising, Markus N, Ajmal, Muhammad, Lorenz, Birgit, Faradz, Sultana M H, Qamar, Raheel, Collin, Rob W J, Rosenberg, Thomas, Cremers, Frans P M
Published in European journal of human genetics : EJHG (01.07.2016)
Published in European journal of human genetics : EJHG (01.07.2016)
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Journal Article
Late-Onset Stargardt Disease Due to Mild, Deep-Intronic ABCA4 Alleles
Runhart, Esmee H, Valkenburg, Dyon, Cornelis, Stéphanie S, Khan, Mubeen, Sangermano, Riccardo, Albert, Silvia, Bax, Nathalie M, Astuti, Galuh D N, Gilissen, Christian, Pott, Jan-Willem R, Verheij, Joke B G M, Blokland, Ellen A W, Cremers, Frans P M, van den Born, L Ingeborgh, Hoyng, Carel B
Published in Investigative ophthalmology & visual science (01.10.2019)
Published in Investigative ophthalmology & visual science (01.10.2019)
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Journal Article
Mutations in AGBL5, Encoding α-Tubulin Deglutamylase, Are Associated With Autosomal Recessive Retinitis Pigmentosa
Astuti, Galuh D N, Arno, Gavin, Hull, Sarah, Pierrache, Laurence, Venselaar, Hanka, Carss, Keren, Raymond, F Lucy, Collin, Rob W J, Faradz, Sultana M H, van den Born, L Ingeborgh, Webster, Andrew R, Cremers, Frans P M
Published in Investigative ophthalmology & visual science (01.11.2016)
Published in Investigative ophthalmology & visual science (01.11.2016)
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Journal Article
Whole-Exome Sequencing Identifies Biallelic IDH3A Variants as a Cause of Retinitis Pigmentosa Accompanied by Pseudocoloboma
Pierrache, Laurence H.M., MD, MSc, Kimchi, Adva, MSc, Ratnapriya, Rinki, PhD, Roberts, Lisa, MSc, Astuti, Galuh D.N., MD, Obolensky, Alexey, MD, PhD, Beryozkin, Avigail, MSc, Tjon-Fo-Sang, Martha J.H., MD, Schuil, Jose, MD, Klaver, Caroline C.W., MD, PhD, Bongers, Ernie M.H.F., MD, PhD, Haer-Wigman, Lonneke, PhD, Schalij, Nicoline, MD, PhD, Breuning, Martijn H., MD, PhD, Fischer, Gratia M., MD, Banin, Eyal, MD, PhD, Ramesar, Raj S., PhD, MSc, Swaroop, Anand, PhD, van den Born, L. Ingeborgh, MD, PhD, Sharon, Dror, PhD, Cremers, Frans P.M., PhD
Published in Ophthalmology (Rochester, Minn.) (01.07.2017)
Published in Ophthalmology (Rochester, Minn.) (01.07.2017)
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Journal Article
Lipopeptide-mediated Cas9 RNP delivery: A promising broad therapeutic strategy for safely removing deep-intronic variants in ABCA4
Vázquez-Domínguez, Irene, Öktem, Mert, Winkelaar, Florian A., Nguyen, Thai Hoang, Hoogendoorn, Anita D.M., Roschi, Eleonora, Astuti, Galuh D.N., Timmermans, Raoul, Suárez-Herrera, Nuria, Bruno, Ilaria, Ruiz-Llombart, Albert, Brealey, Joseph, de Jong, Olivier G., Collin, Rob W.J., Mastrobattista, Enrico, Garanto, Alejandro
Published in Molecular therapy. Nucleic acids (10.12.2024)
Published in Molecular therapy. Nucleic acids (10.12.2024)
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Journal Article
CRISPR-Cas9 correction of a nonsense mutation in LCA5 rescues lebercilin expression and localization in human retinal organoids
Afanasyeva, Tess A.V., Athanasiou, Dimitra, Perdigao, Pedro R.L., Whiting, Kae R., Duijkers, Lonneke, Astuti, Galuh D.N., Bennett, Jean, Garanto, Alejandro, van der Spuy, Jacqueline, Roepman, Ronald, Cheetham, Michael E., Collin, Rob W.J.
Published in Molecular therapy. Methods & clinical development (08.06.2023)
Published in Molecular therapy. Methods & clinical development (08.06.2023)
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Journal Article
Whole genome sequencing identifies elusive variants in genetically unsolved Italian inherited retinal disease patients
Zeuli, Roberta, Karali, Marianthi, de Bruijn, Suzanne E., Rodenburg, Kim, Scarpato, Margherita, Capasso, Dalila, Astuti, Galuh D.N., Gilissen, Christian, Rodríguez-Hidalgo, María, Ruiz-Ederra, Javier, Testa, Francesco, Simonelli, Francesca, Cremers, Frans P.M., Banfi, Sandro, Roosing, Susanne
Published in HGG advances (18.07.2024)
Published in HGG advances (18.07.2024)
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Journal Article
Identification of a novel nonsense mutation in RP1 that causes autosomal recessive retinitis pigmentosa in an Indonesian family
Siemiatkowska, Anna M, Astuti, Galuh D N, Arimadyo, Kentar, den Hollander, Anneke I, Faradz, Sultana M H, Cremers, Frans P M, Collin, Rob W J
Published in Molecular vision (03.10.2012)
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Published in Molecular vision (03.10.2012)
Journal Article
Molecular genetic analysis of retinitis pigmentosa in Indonesia using genome-wide homozygosity mapping
Siemiatkowska, Anna M, Arimadyo, Kentar, Moruz, Luminita M, Astuti, Galuh D N, de Castro-Miro, Marta, Zonneveld, Marijke N, Strom, Tim M, de Wijs, Ilse J, Hoefsloot, Lies H, Faradz, Sultana M H, Cremers, Frans P M, den Hollander, Anneke I, Collin, Rob W J
Published in Molecular vision (2011)
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Published in Molecular vision (2011)
Journal Article
Novel insights into the molecular pathogenesis of CYP 4V2 ‐associated Bietti's retinal dystrophy
Astuti, Galuh D. N., Sun, Vincent, Bauwens, Miriam, Zobor, Ditta, Leroy, Bart P., Omar, Amer, Jurklies, Bernhard, Lopez, Irma, Ren, Huanan, Yazar, Volkan, Hamel, Christian, Kellner, Ulrich, Wissinger, Bernd, Kohl, Susanne, De Baere, Elfride, Collin, Rob W. J., Koenekoop, Robert K.
Published in Molecular genetics & genomic medicine (01.01.2015)
Published in Molecular genetics & genomic medicine (01.01.2015)
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Journal Article
Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome
van der Spek, Jet, den Hoed, Joery, Snijders Blok, Lot, Dingemans, Alexander J.M., Schijven, Dick, Nellaker, Christoffer, Venselaar, Hanka, Astuti, Galuh D.N., Barakat, Tahsin Stefan, Bebin, E. Martina, Beck-Wödl, Stefanie, Beunders, Gea, Brown, Natasha J., Brunet, Theresa, Brunner, Han G., Campeau, Philippe M., Čuturilo, Goran, Gilissen, Christian, Haack, Tobias B., Hüning, Irina, Husain, Ralf A., Kamien, Benjamin, Lim, Sze Chern, Lovrecic, Luca, Magg, Janine, Maver, Ales, Miranda, Valancy, Monteil, Danielle C., Ockeloen, Charlotte W., Pais, Lynn S., Plaiasu, Vasilica, Raiti, Laura, Richmond, Christopher, Rieß, Angelika, Schwaibold, Eva M.C., Simon, Marleen E.H., Spranger, Stephanie, Tan, Tiong Yang, Thompson, Michelle L., de Vries, Bert B.A., Wilkins, Ella J., Willemsen, Marjolein H., Francks, Clyde, Vissers, Lisenka E.L.M., Fisher, Simon E., Kleefstra, Tjitske
Published in Genetics in medicine (01.06.2022)
Published in Genetics in medicine (01.06.2022)
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Journal Article
Identification of novel 3D-genome altering and complex structural variants underlying retinitis pigmentosa type 17 through a multistep and high-throughput approach
de Bruijn, Suzanne E., Panneman, Daan M., Weisschuh, Nicole, Cadena, Elizabeth L., Boonen, Erica G. M., Holtes, Lara K., Astuti, Galuh D. N., Cremers, Frans P. M., Leijsten, Nico, Corominas, Jordi, Gilissen, Christian, Skowronska, Anna, Woodley, Jessica, Beggs, Andrew D., Toulis, Vasileios, Chen, Di, Cheetham, Michael E., Hardcastle, Alison J., McLaren, Terri L., Lamey, Tina M., Thompson, Jennifer A., Chen, Fred K., de Roach, John N., Urwin, Isabella R., Sullivan, Lori S., Roosing, Susanne
Published in Frontiers in genetics (23.10.2024)
Published in Frontiers in genetics (23.10.2024)
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Journal Article