WDR19: An ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior-Loken syndrome
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
Published in Clinical genetics (01.08.2013)
Published in Clinical genetics (01.08.2013)
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GPR98 mutations cause Usher syndrome type 2 in males
Ebermann, I, Wiesen, M H J, Zrenner, E, Lopez, I, Pigeon, R, Kohl, S, Löwenheim, H, Koenekoop, R K, Bolz, H J
Published in Journal of medical genetics (01.04.2009)
Published in Journal of medical genetics (01.04.2009)
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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
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
Published in Journal of medical genetics (01.09.2003)
Published in Journal of medical genetics (01.09.2003)
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Delayed vitreous haemorrhage after paediatric cataract surgery in Lowe syndrome
Mikhail, M, Modabber, M, Koenekoop, R K, Braverman, N, Khan, A
Published in Eye (London) (01.09.2016)
Published in Eye (London) (01.09.2016)
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Estimating ON and OFF contributions to the photopic hill: normative data and clinical applications
Garon, M.-L., Dorfman, A. L., Racine, J., Koenekoop, R. K., Little, J. M., Lachapelle, P.
Published in Documenta ophthalmologica (01.08.2014)
Published in Documenta ophthalmologica (01.08.2014)
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Genetics of Leber congenital amaurosis
DEN HOLLANDER, AI, ROEPMAN, R, KOENEKOOP, RK, CREMERS, FPM
Published in Acta ophthalmologica (Oxford, England) (01.09.2011)
Published in Acta ophthalmologica (Oxford, England) (01.09.2011)
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Ocular Findings in a Family With Sotos Syndrome (Cerebral Gigantism)
Koenekoop, Robert K., Rosenbaum, Kenneth N., Traboulsi, Elias I.
Published in American journal of ophthalmology (01.05.1995)
Published in American journal of ophthalmology (01.05.1995)
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Evidence supportive of a functional discrimination between photopic oscillatory potentials as revealed with cone and rod mediated retinopathies
LACHAPELLE, P, ROUSSEAU, S, MCKERRAL, M, BENOIT, J, POLOMENO, R. C, KOENEKOOP, R. K, LITTLE, J. M
Published in Documenta ophthalmologica (1998)
Published in Documenta ophthalmologica (1998)
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Mutational analysis and clinical correlation in Leber congenital amaurosis
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.
Published in Ophthalmic genetics (01.09.2000)
Published in Ophthalmic genetics (01.09.2000)
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Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care
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.
Published in Clinical genetics (01.03.2016)
Published in Clinical genetics (01.03.2016)
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PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome
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
Published in The Journal of clinical investigation (01.06.2010)
Published in The Journal of clinical investigation (01.06.2010)
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Mutations in the CEP290 ( NPHP6) Gene Are a Frequent Cause of Leber Congenital Amaurosis
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.
Published in American journal of human genetics (01.09.2006)
Published in American journal of human genetics (01.09.2006)
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Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness
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.
Published in Nature communications (09.01.2015)
Published in Nature communications (09.01.2015)
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Mathematical analysis of the cone ERG photopic hill: Clinical applications
LACHAPELLE, P, GARON, M, JAUFFRET, C, RUFIANGE, M, HAMILTON, R, MCCULLOCH, C, KOENEKOOP, RK, POLOMENO, RC, LITTLE, JM
Published in Acta ophthalmologica Scandinavica (01.09.2007)
Published in Acta ophthalmologica Scandinavica (01.09.2007)
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