Identification of a 2 Mb Human Ortholog of Drosophila eyes shut/spacemaker that Is Mutated in Patients with Retinitis Pigmentosa

Por 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.
Publicado em 2008

CDK19 is disrupted in a female patient with bilateral congenital retinal folds, microcephaly and mild mental retardation

Por 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.
Publicado em 2010

Next-Generation Sequencing of a 40 Mb Linkage Interval Reveals TSPAN12 Mutations in Patients with Familial Exudative Vitreoretinopathy

Por 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.
Publicado em 2010

Missense mutations in the WD40 domain of AHI1 cause non-syndromic retinitis pigmentosa

Por 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
Publicado no J Med Genet (2017)

Mutations in IMPG2, Encoding Interphotoreceptor Matrix Proteoglycan 2, Cause Autosomal-Recessive Retinitis Pigmentosa

Por 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.
Publicado em 2010

Mutations in C8orf37, Encoding a Ciliary Protein, are Associated with Autosomal-Recessive Retinal Dystrophies with Early Macular Involvement

Por 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.
Publicado em 2012

ZNF408 is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculature

Por 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.
Publicado em 2013

NR2F1 Mutations Cause Optic Atrophy with Intellectual Disability

Por 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.
Publicado em 2014