Variants in Nebulin (NEB) Are Linked to the Development of Familial Primary Angle Closure Glaucoma in Basset Hounds

Por Ahram, Dina F., Grozdanic, Sinisa D., Kecova, Helga, Henkes, Arjen, Collin, Rob W. J., Kuehn, Markus H.
Publicado no PLoS One (2015)

Deleterious Germline BLM Mutations and the Risk for Early-onset Colorectal Cancer

Por de Voer, Richarda M., Hahn, Marc-Manuel, Mensenkamp, Arjen R., Hoischen, Alexander, Gilissen, Christian, Henkes, Arjen, Spruijt, Liesbeth, van Zelst-Stams, Wendy A., Marleen Kets, C., Verwiel, Eugene T., Nagtegaal, Iris D., Schackert, Hans K., van Kessel, Ad Geurts, Hoogerbrugge, Nicoline, Ligtenberg, Marjolijn J.L., Kuiper, Roland P.
Publicado no Sci Rep (2015)

Whole Exome Sequencing in Patients with the Cuticular Drusen Subtype of Age-Related Macular Degeneration

Por Duvvari, Maheswara R., van de Ven, Johannes P. H., Geerlings, Maartje J., Saksens, Nicole T. M., Bakker, Bjorn, Henkes, Arjen, Neveling, Kornelia, del Rosario, Marisol, Westra, Dineke, van den Heuvel, Lambertus P. W. J., Schick, Tina, Fauser, Sascha, Boon, Camiel J. F., Hoyng, Carel B., de Jong, Eiko K., den Hollander, Anneke I.
Publicado no PLoS One (2016)

Screening of a large cohort of Leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlations

Por Mackay, Donna S., Borman, Arundhati Dev, Sui, Ruifang, van den Born, L. Ingeborgh, Berson, Eliot L., Ocaka, Louise A., Davidson, Alice E., Heckenlively, John R., Branham, Kari, Ren, Huanan, Lopez, Irma, Maria, Maleeha, Azam, Maleeha, Henkes, Arjen, Blokland, Ellen, Qamar, Raheel, Webster, Andrew R., Cremers, Frans P.M., Moore, Anthony T., Koenekoop, Robert K., Andreasson, Sten, de Baere, Elfride, Bennett, Jean, Chader, Gerald J., Berger, Wolfgang, Golovleva, Irina, Greenberg, Jacquie, den Hollander, Anneke I., Klaver, Caroline C.W., Klevering, B. Jeroen, Lorenz, Birgit, Preising, Markus N., Ramsear, Raj, Roberts, Lisa, Roepman, Ronald, Rohrschneider, Klaus, Wissinger, Bernd
Publicado no Hum Mutat (2013)

Novel mutations in LRP6 highlight the role of WNT signaling in tooth agenesis

Por Ockeloen, Charlotte W., Khandelwal, Kriti D., Dreesen, Karoline, Ludwig, Kerstin U., Sullivan, Robert, van Rooij, Iris A.L.M., Thonissen, Michelle, Swinnen, Steven, Phan, Milien, Conte, Federica, Ishorst, Nina, Gilissen, Christian, RoaFuentes, Laury, van de Vorst, Maartje, Henkes, Arjen, Steehouwer, Marloes, van Beusekom, Ellen, Bloemen, Marjon, Vankeirsbilck, Bruno, Bergé, Stefaan, Hens, Greet, Schoenaers, Joseph, Poorten, Vincent Vander, Roosenboom, Jasmien, Verdonck, An, Devriendt, Koen, Roeleveldt, Nel, Jhangiani, Shalini N., Vissers, Lisenka E.L.M., Lupski, James R., de Ligt, Joep, Von den Hoff, Johannes W., Pfundt, Rolph, Brunner, Han G., Zhou, Huiqing, Dixon, Jill, Mangold, Elisabeth, van Bokhoven, Hans, Dixon, Michael J., Kleefstra, Tjitske, Hoischen, Alexander, Carels, Carine E.L.
Publicado no Genet Med (2016)