A complete, homozygous CRX deletion causing nullizygosity is a new genetic mechanism for Leber congenital amaurosis von Ibrahim, M. T., Alarcon-Martinez, T., Lopez, I., Fajardo, N., Chiang, J., Koenekoop, R. K.

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WDR19: An ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior-Loken syndrome von Coussa, R G, Otto, E A, Gee, H-Y, Arthurs, P, Ren, H, Lopez, I, Keser, V, Fu, Q, Faingold, R, Khan, A, Schwartzentruber, J, Majewski, J, Hildebrandt, F, Koenekoop, R K

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Delayed vitreous haemorrhage after paediatric cataract surgery in Lowe syndrome von Mikhail, M, Modabber, M, Koenekoop, R K, Braverman, N, Khan, A

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GPR98 mutations cause Usher syndrome type 2 in males von Ebermann, I, Wiesen, M H J, Zrenner, E, Lopez, I, Pigeon, R, Kohl, S, Löwenheim, H, Koenekoop, R K, Bolz, H J

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A Tyr368His RPE65 founder mutation is associated with variable expression and progression of early onset retinal dystrophy in 10 families of a genetically isolated population von Yzer, S, van den Born, L I, Schuil, J, Kroes, H Y, van Genderen, M M, Boonstra, F N, van den Helm, B, Brunner, H G, Koenekoop, R K, Cremers, F P M

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Estimating ON and OFF contributions to the photopic hill: normative data and clinical applications von Garon, M.-L., Dorfman, A. L., Racine, J., Koenekoop, R. K., Little, J. M., Lachapelle, P.

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Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care von Sawyer, S.L., Hartley, T., Dyment, D.A., Beaulieu, C.L., Schwartzentruber, J., Smith, A., Bedford, H.M., Bernard, G., Bernier, F.P., Brais, B., Bulman, D.E., Warman Chardon, J., Chitayat, D., Deladoëy, J., Fernandez, B.A., Frosk, P., Geraghty, M.T., Gerull, B., Gibson, W., Gow, R.M., Graham, G.E., Green, J.S., Heon, E., Horvath, G., Innes, A.M., Jabado, N., Kim, R.H., Koenekoop, R.K., Khan, A., Lehmann, O.J., Mendoza-Londono, R., Michaud, J.L., Nikkel, S.M., Penney, L.S., Polychronakos, C., Richer, J., Rouleau, G.A., Samuels, M.E., Siu, V.M., Suchowersky, O., Tarnopolsky, M.A., Yoon, G., Zahir, F.R., Majewski, J., Boycott, K.M.

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PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome von Ebermann, Inga, Phillips, Jennifer B, Liebau, Max C, Koenekoop, Robert K, Schermer, Bernhard, Lopez, Irma, Schäfer, Ellen, Roux, Anne-Francoise, Dafinger, Claudia, Bernd, Antje, Zrenner, Eberhart, Claustres, Mireille, Blanco, Bernardo, Nürnberg, Gudrun, Nürnberg, Peter, Ruland, Rebecca, Westerfield, Monte, Benzing, Thomas, Bolz, Hanno J

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Mutations in the CEP290 ( NPHP6) Gene Are a Frequent Cause of Leber Congenital Amaurosis von den Hollander, Anneke I., Koenekoop, Robert K., Yzer, Suzanne, Lopez, Irma, Arends, Maarten L., Voesenek, Krysta E.J., Zonneveld, Marijke N., Strom, Tim M., Meitinger, Thomas, Brunner, Han G., Hoyng, Carel B., van den Born, L. Ingeborgh, Rohrschneider, Klaus, Cremers, Frans P.M.

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A Nonsense Mutation in PDE6H Causes Autosomal-Recessive Incomplete Achromatopsia von Kohl, Susanne, Coppieters, Frauke, Meire, Françoise, Schaich, Simone, Roosing, Susanne, Brennenstuhl, Christina, Bolz, Sylvia, van Genderen, Maria M., Riemslag, Frans C.C., Lukowski, Robert, den Hollander, Anneke I., Cremers, Frans P.M., De Baere, Elfride, Hoyng, Carel B., Wissinger, Bernd

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Genetics of Leber congenital amaurosis von DEN HOLLANDER, AI, ROEPMAN, R, KOENEKOOP, RK, CREMERS, FPM

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Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness von Kmoch, S., Majewski, J., Ramamurthy, V., Cao, S., Fahiminiya, S., Ren, H., MacDonald, I. M., Lopez, I., Sun, V., Keser, V., Khan, A., Stránecký, V., Hartmannová, H., Přistoupilová, A., Hodaňová, K., Piherová, L., Kuchař, L., Baxová, A., Chen, R., Barsottini, O. G. P., Pyle, A., Griffin, H., Splitt, M., Sallum, J., Tolmie, J. L., Sampson, J. R., Chinnery, P., Banin, E., Sharon, D., Dutta, S., Grebler, R., Helfrich-Foerster, C., Pedroso, J. L., Kretzschmar, D., Cayouette, M., Koenekoop, R. K.

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An overview of leber congenital amaurosis: a model to understand human retinal development von Koenekoop, Robert K

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

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A new ocular phenotype associated with an unexpected but known systemic disorder and mutation: novel use of genomic diagnostics and exome sequencing von Majewski, Jacek, Wang, Zibo, Lopez, Irma, Al Humaid, Sulaiman, Ren, Huanan, Racine, Julie, Bazinet, Alex, Mitchel, Grant, Braverman, Nancy, Koenekoop, Robert K

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Mutational analysis and clinical correlation in Leber congenital amaurosis von Dharmaraj, Sharola, Silva, Eduardo, Pina, Ana Luisa, Li, Ying Ying, Yang, Jun-Ming, Carter, R. Colin, Loyer, Magali, El-Hilali, Hala, Traboulsi, Elias, Sundin, Olof, Zhu, Danping, Koenekoop, Robert K., Maumenee, Irene H.

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Ocular and extra-ocular features of patients with Leber congenital amaurosis and mutations in CEP290 von Yzer, Suzanne, Hollander, Anneke I den, Lopez, Irma, Pott, Jan-Willem R, de Faber, Jan Tjeerd H N, Cremers, Frans P M, Koenekoop, Robert K, van den Born, L Ingeborgh

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Clinical features of autosomal dominant congenital nystagmus linked to chromosome 6p12 von Kerrison, John B., Koenekoop, Robert K., Arnould, Véronique J., Zee, David, Maumenee, Irene H.

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A Gene for Autosomal Dominant Congenital Nystagmus Localizes to 6p12 von Kerrison, John B., Arnould, Véronique J., Barmada, M.Michael, Koenekoop, Robert K., Schmeckpeper, Barbara J., Maumenee, Irene H.

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Author reply von KOENEKOOP, R

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