The efficacy of microarray screening for autosomal recessive retinitis pigmentosa in routine clinical practice

Por van Huet, Ramon A. C., Pierrache, Laurence H.M., Meester-Smoor, Magda A., Klaver, Caroline C.W., van den Born, L. Ingeborgh, Hoyng, Carel B., de Wijs, Ilse J., Collin, Rob W. J., Hoefsloot, Lies H., Klevering, B. Jeroen
Publicado no Mol Vis (2015)

Novel compound heterozygous NMNAT1 variants associated with Leber congenital amaurosis

Por Siemiatkowska, Anna M., van den Born, L. Ingeborgh, van Genderen, Maria M., Bertelsen, Mette, Zobor, Ditta, Rohrschneider, Klaus, van Huet, Ramon A.C., Nurohmah, Siska, Klevering, B. Jeroen, Kohl, Susanne, Faradz, Sultana M.H., Rosenberg, Thomas, den Hollander, Anneke I., Collin, Rob W.J., Cremers, Frans P.M.
Publicado em 2014

Zinc Supplementation Inhibits Complement Activation in Age-Related Macular Degeneration

Por Smailhodzic, Dzenita, van Asten, Freekje, Blom, Anna M., Mohlin, Frida C., den Hollander, Anneke I., van de Ven, Johannes P. H., van Huet, Ramon A. C., Groenewoud, Joannes M. M., Tian, Yuan, Berendschot, Tos T. J. M., Lechanteur, Yara T. E., Fauser, Sascha, de Bruijn, Chris, Daha, Mohamed R., van der Wilt, Gert Jan, Hoyng, Carel B., Klevering, B. Jeroen
Publicado no PLoS One (2014)

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

Next-generation genetic testing for retinitis pigmentosa

Por Neveling, Kornelia, Collin, Rob W.J., Gilissen, Christian, van Huet, Ramon A.C., Visser, Linda, Kwint, Michael P., Gijsen, Sabine J., Zonneveld, Marijke N., Wieskamp, Nienke, de Ligt, Joep, Siemiatkowska, Anna M., Hoefsloot, Lies H., Buckley, Michael F., Kellner, Ulrich, Branham, Kari E., den Hollander, Anneke I., Hoischen, Alexander, Hoyng, Carel, Klevering, B. Jeroen, van den Born, L. Ingeborgh, Veltman, Joris A., Cremers, Frans P.M., Scheffer, Hans
Publicado em 2012