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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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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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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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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NR2F1 Mutations Cause Optic Atrophy with Intellectual Disability
Bosch, Daniëlle G.M., Boonstra, F. Nienke, Gonzaga-Jauregui, Claudia, Xu, Mafei, de Ligt, Joep, Jhangiani, Shalini, Wiszniewski, Wojciech, Muzny, Donna M., Yntema, Helger G., Pfundt, Rolph, Vissers, Lisenka E.L.M., Spruijt, Liesbeth, Blokland, Ellen A.W., Chen, Chun-An, Lewis, Richard A., Tsai, Sophia Y., Gibbs, Richard A., Tsai, Ming-Jer, Lupski, James R., Zoghbi, Huda Y., Cremers, Frans P.M., de Vries, Bert B.A., Schaaf, Christian P.
Published in American journal of human genetics (06.02.2014)
Published in American journal of human genetics (06.02.2014)
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Mutations in the EYS Gene Account for Approximately 5% of Autosomal Recessive Retinitis Pigmentosa and Cause a Fairly Homogeneous Phenotype
Littink, Karin W., MD, van den Born, L. Ingeborgh, MD, PhD, Koenekoop, Robert K., MD, PhD, Collin, Rob W.J., PhD, Zonneveld, Marijke N., BSc, Blokland, Ellen A.W., BSc, Khan, Hayat, MD, Theelen, Thomas, MD, PhD, Hoyng, Carel B., MD, PhD, Cremers, Frans P.M., PhD, den Hollander, Anneke I., PhD, Klevering, B. Jeroen, MD, PhD
Published in Ophthalmology (Rochester, Minn.) (01.10.2010)
Published in Ophthalmology (Rochester, Minn.) (01.10.2010)
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CDK19 is disrupted in a female patient with bilateral congenital retinal folds, microcephaly and mild mental retardation
Mukhopadhyay, Arijit, Kramer, Jamie M, Merkx, Gerard, Lugtenberg, Dorien, Smeets, Dominique F, Oortveld, Merel A. W, Blokland, Ellen A. W, Agrawal, Jyoti, Schenck, Annette, van Bokhoven, Hans, Huys, Erik, Schoenmakers, Eric F, van Kessel, Ad Geurts, van Nouhuys, C. Erik, Cremers, Frans P. M
Published in Human genetics (01.09.2010)
Published in Human genetics (01.09.2010)
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The Common ABCA4 Variant p.Asn1868Ile Shows Nonpenetrance and Variable Expression of Stargardt Disease When Present in trans With Severe Variants
Runhart, Esmee H, Sangermano, Riccardo, Cornelis, Stéphanie S, Verheij, Joke B G M, Plomp, Astrid S, Boon, Camiel J F, Lugtenberg, Dorien, Roosing, Susanne, Bax, Nathalie M, Blokland, Ellen A W, Jacobs-Camps, Marlie H M, van der Velde-Visser, Saskia D, Pott, Jan-Willem R, Rohrschneider, Klaus, Thiadens, Alberta A H J, Klaver, Caroline C W, van den Born, L Ingeborgh, Hoyng, Carel B, Cremers, Frans P M
Published in Investigative ophthalmology & visual science (02.07.2018)
Published in Investigative ophthalmology & visual science (02.07.2018)
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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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Missense mutations in the WD40 domain of AHI1 cause non-syndromic retinitis pigmentosa
Nguyen, Thanh-Minh T, Hull, Sarah, Roepman, Ronald, van den Born, L Ingeborgh, Oud, Machteld M, de Vrieze, Erik, Hetterschijt, Lisette, Letteboer, Stef J F, van Beersum, Sylvia E C, Blokland, Ellen A, Yntema, Helger G, Cremers, Frans P M, van der Zwaag, Paul A, Arno, Gavin, van Wijk, Erwin, Webster, Andrew R, Haer-Wigman, Lonneke
Published in Journal of medical genetics (01.09.2017)
Published in Journal of medical genetics (01.09.2017)
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Mutations in IMPG2, Encoding Interphotoreceptor Matrix Proteoglycan 2, Cause Autosomal-Recessive Retinitis Pigmentosa
Bandah-Rozenfeld, Dikla, Collin, Rob W.J., Banin, Eyal, Ingeborgh van den Born, L., Coene, Karlien L.M., Siemiatkowska, Anna M., Zelinger, Lina, Khan, Muhammad I., Lefeber, Dirk J., Erdinest, Inbar, Testa, Francesco, Simonelli, Francesca, Voesenek, Krysta, Blokland, Ellen A.W., Strom, Tim M., Klaver, Caroline C.W., Qamar, Raheel, Banfi, Sandro, Cremers, Frans P.M., Sharon, Dror, den Hollander, Anneke I.
Published in American journal of human genetics (13.08.2010)
Published in American journal of human genetics (13.08.2010)
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Journal Article
De Novo and Inherited Mutations in COL4
Yoneda, Yuriko, Haginoya, Kazuhiro, Arai, Hiroshi, Yamaoka, Shigeo, Tsurusaki, Yoshinori, Doi, Hiroshi, Miyake, Noriko, Yokochi, Kenji, Osaka, Hitoshi, Kato, Mitsuhiro, Matsumoto, Naomichi, Saitsu, Hirotomo, Jeanne, Marion, Labelle-Dumais, Cassandre, Jorgensen, Jeff, Kauffman, WBerkeley, Mancini, Grazia M, Favor, Jack, Valant, Valerie, Greenberg, Steven M, Rosand, Jonathan, Gould, Douglas B, 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 JF, Mans, Dorus A, Blokland, Ellen AW, Kwint, Michael P, Gijsen, Sabine J, van Huet, Ramon AC, Collin, Rob WJ, Scheffer, H, Veltman, Joris A, Zrenner, Eberhart, den Hollander, Anneke I, Klevering, BJeroen, Cremers, Frans PM
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
Identification of a 2 Mb Human Ortholog of Drosophila eyes shut/spacemaker that Is Mutated in Patients with Retinitis Pignentosa
Collin, Rob WJ, Littink, Karin W, Klevering, B Jeroen, van den Born, L Ingeborgh, Koenekoop, Robert K, Zonneveld, Marijke N, Blokland, Ellen AW, Strom, Tim M, Hoyng, Carel B, den Hollander, Anneke I, Cremers, Frans PM
Published in American journal of human genetics (17.11.2008)
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Published in American journal of human genetics (17.11.2008)
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