Sequence variants of the DFNB31 gene among Usher syndrome patients of diverse origin

מאת Aller, Elena, Jaijo, Teresa, van Wijk, Erwin, Ebermann, Inga, Kersten, Ferry, García-García, Gema, Voesenek, Krysta, Aparisi, María José, Hoefsloot, Lies, Cremers, Cor, Díaz-Llopis, Manuel, Pennings, Ronald, Bolz, Hanno J., Kremer, Hannie, Millán, José M.
יצא לאור 2010

Multiple enhancers located in a 1-Mb region upstream of POU3F4 promote expression during inner ear development and may be required for hearing

מאת Naranjo, Silvia, Voesenek, Krysta, de la Calle-Mustienes, Elisa, Robert-Moreno, Alex, Kokotas, Haris, Grigoriadou, Maria, Economides, John, Van Camp, Guy, Hilgert, Nele, Moreno, Felipe, Alsina, Berta, Petersen, Michael B., Kremer, Hannie, Gómez-Skarmeta, José Luis
יצא לאור 2010

Mutations in the CEP290 (NPHP6) Gene Are a Frequent Cause of Leber Congenital Amaurosis

מאת 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.
יצא לאור 2006

Autosomal Recessive Mental Retardation, Deafness, Ankylosis, and Mild Hypophosphatemia Associated with a Novel ANKH Mutation in a Consanguineous Family

מאת Morava, Eva, Kühnisch, Jirko, Drijvers, Jefte M., Robben, Joris H., Cremers, Cor, van Setten, Petra, Branten, Amanda, Stumpp, Sabine, de Jong, Alphons, Voesenek, Krysta, Vermeer, Sascha, Heister, Angelien, Claahsen-van der Grinten, Hedi L., O'Neill, Charles W., Willemsen, Michèl A., Lefeber, Dirk, Deen, Peter M. T., Kornak, Uwe, Kremer, Hannie, Wevers, Ron A.
הוצא לאור ב J Clin Endocrinol Metab (2011)

A 3-base pair deletion, c.9711_9713del, in DMD results in intellectual disability without muscular dystrophy

מאת de Brouwer, Arjan PM, Nabuurs, Sander B, Verhaart, Ingrid EC, Oudakker, Astrid R, Hordijk, Roel, Yntema, Helger G, Hordijk-Hos, Jannet M, Voesenek, Krysta, de Vries, Bert BA, van Essen, Ton, Chen, Wei, Hu, Hao, Chelly, Jamel, den Dunnen, Johan T, Kalscheuer, Vera M, Aartsma-Rus, Annemieke M, Hamel, Ben CJ, van Bokhoven, Hans, Kleefstra, Tjitske
יצא לאור 2014

Mutations in IMPG2, Encoding Interphotoreceptor Matrix Proteoglycan 2, Cause Autosomal-Recessive Retinitis Pigmentosa

מאת Bandah-Rozenfeld, Dikla, Collin, Rob W.J., Banin, Eyal, Ingeborgh van den Born, L., Coene, Karlien L.M., Siemiatkowska, Anna M., Zelinger, Lina, Khan, Muhammad I., Lefeber, Dirk J., Erdinest, Inbar, Testa, Francesco, Simonelli, Francesca, Voesenek, Krysta, Blokland, Ellen A.W., Strom, Tim M., Klaver, Caroline C.W., Qamar, Raheel, Banfi, Sandro, Cremers, Frans P.M., Sharon, Dror, den Hollander, Anneke I.
יצא לאור 2010

Variants in CUL4B are Associated with Cerebral Malformations

מאת Vulto-van Silfhout, Anneke T., Nakagawa, Tadashi, Bahi-Buisson, Nadia, Haas, Stefan A., Hu, Hao, Bienek, Melanie, Vissers, Lisenka E.L.M., Gilissen, Christian, Tzschach, Andreas, Busche, Andreas, Müsebeck, Jörg, Rump, Patrick, Mathijssen, Inge B., Avela, Kristiina, Somer, Mirja, Doagu, Fatma, Philips, Anju K., Rauch, Anita, Baumer, Alessandra, Voesenek, Krysta, Poirier, Karine, Vigneron, Jacqueline, Amram, Daniel, Odent, Sylvie, Nawara, Magdalena, Obersztyn, Ewa, Lenart, Jacek, Charzewska, Agnieszka, Lebrun, Nicolas, Fischer, Ute, Nillesen, Willy M., Yntema, Helger G., Järvelä, Irma, Ropers, Hans-Hilger, de Vries, Bert B.A., Brunner, Han G., van Bokhoven, Hans, Raymond, F. Lucy, Willemsen, Michèl A.A.P., Chelly, Jamel, Xiong, Yue, Barkovich, A. James, Kalscheuer, Vera M., Kleefstra, Tjitske, de Brouwer, Arjan P.M.
הוצא לאור ב Hum Mutat (2015)