Increased DNA Methylation at the AXIN1 Gene in a Monozygotic Twin from a Pair Discordant for a Caudal Duplication Anomaly von Oates, N.A., van Vliet, J., Duffy, D.L., Kroes, H.Y., Martin, N.G., Boomsma, D.I., Campbell, M., Coulthard, M.G., Whitelaw, E., Chong, S.

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NGS panel analysis in 24 ectopia lentis patients; a clinically relevant test with a high diagnostic yield von Overwater, E, Floor, K, van Beek, D, de Boer, K, van Dijk, T, Hilhorst-Hofstee, Y, Hoogeboom, A.J.M, van Kaam, K.J, van de Kamp, J.M, Kempers, M, Krapels, I.P.C, Kroes, H.Y, Loeys, B, Salemink, S, Stumpel, C.T.R.M, Verhoeven, V.J.M, Wijnands-van den Berg, E, Cobben, J.M, van Tintelen, J.P, Weiss, M.M, Houweling, A.C, Maugeri, A

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De novo and biallelic DEAF1 variants cause a phenotypic spectrum von Nabais Sá, Maria J., Jensik, Philip J., McGee, Stacey R., Parker, Michael J., Lahiri, Nayana, McNeil, Evan P., Kroes, Hester Y., Hagerman, Randi J., Harrison, Rachel E., Montgomery, Tara, Splitt, Miranda, Palmer, Elizabeth E., Sachdev, Rani K., Mefford, Heather C., Scott, Abbey A., Martinez-Agosto, Julian A., Lorenz, Rüdiger, Orenstein, Naama, Berg, Jonathan N., Amiel, Jeanne, Heron, Delphine, Keren, Boris, Cobben, Jan-Maarten, Menke, Leonie A., Marco, Elysa J., Graham, John M., Pierson, Tyler Mark, Karimiani, Ehsan Ghayoor, Maroofian, Reza, Manzini, M. Chiara, Cauley, Edmund S., Colombo, Roberto, Odent, Sylvie, Dubourg, Christele, Phornphutkul, Chanika, de Brouwer, Arjan P.M., de Vries, Bert B.A., Vulto-vanSilfhout, Anneke T.

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Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability von Monroe, G.R, Frederix, G.W.J, Savelberg, S.M, de Vries, T.I, Duran, K.J, van der Smagt, J.J, Terhal, P.A, van Hasselt, P.M, Kroes, H.Y, Verhoeven - Duif, N.M, Nijman, I.J, Carbo, E.C, van Gassen, K.L.I, Knoers, N.V, Hövels, A.M, van Haelst, M.M, Visser, G, Van Haaften, G

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Murine Joubert syndrome reveals Hedgehog signaling defects as a potential therapeutic target for nephronophthisis von Hynes, A.M, Giles, R.H, Srivastava, S.K, Eley, L, Whitehead, J, Danilenko, M, Raman, S, Slaats, G.G.G, Colville, J.G, Ajzenberg, H, Kroes, H.Y, Thelwall, P.E, Simmons, N.L, Miles, C.G, Sayer, J.A

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Stargardt disease: monitoring incidence and diagnostic trends in the Netherlands using a nationwide disease registry von Runhart, E.H., Dhooge, P., Meester-Smoor, M., Pas, J., Pott, J.W.R., Leeuwen, R. van, Kroes, H.Y., Bergen, A.A., Jong-Hesse, Y. de, Thiadens, A.A., Schooneveld, M.J. van, Genderen, M. van, Boon, C., Klaver, C., Born, L.I. van den, Cremers, F.P.M., Hoyng, C.B.

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Diagnostic exome sequencing in 266 Dutch patients with visual impairment von Haer-Wigman, L., Zelst-Stams, W.A.G. van, Pfundt, R., Born, L.I. van den, Klaver, C.C.W., Verheij, J.B.G.M., Hoyng, C.B., Breuning, M.H., Boon, C.J.F., Kievit, A.J., Verhoeven, V.J.M., Pott, J.W.R., Sallevelt, S.C.E.H., Hagen, J.M. van, Plomp, A.S., Kroes, H.Y., Lelieveld, S.H., Hehir-Kwa, J.Y., Castelein, S., Nelen, M., Scheffer, H., Lugtenberg, D., Cremers, F.P.M., Hoefsloot, L., Yntema, H.G.

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Two cases of the caudal duplication anomaly including a discordant monozygotic twin von Kroes, H.Y., Takahashi, M., Zijlstra, R.J., Baert, J.A.L.L., Kooi, K.A., Hofstra, R.M.W., van Essen, A.J.

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Two cases of the caudal duplication anomaly including a discordant monozygotic twin von Kroes, H.Y., Takahashi, M., Zijlstra, R.J., Baert, J.A.L.L., Kooi, K.A., Hofstra, R.M.W., van Essen, A.J.

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