Digital PCR Validates 8q Dosage as Prognostic Tool in Uveal Melanoma

by Versluis, Mieke, de Lange, Mark J., van Pelt, Sake I., Ruivenkamp, Claudia A. L., Kroes, Wilma G. M., Cao, Jinfeng, Jager, Martine J., Luyten, Gre P. M., van der Velden, Pieter A.
Published 2015

Inheritance of low-frequency regulatory SNPs and a rare null mutation in exon-junction complex subunit RBM8A causes TAR

by Albers, Cornelis A, Paul, Dirk S, Schulze, Harald, Freson, Kathleen, Stephens, Jonathan C, Smethurst, Peter A, Jolley, Jennifer D, Cvejic, Ana, Kostadima, Myrto, Bertone, Paul, Breuning, Martijn H, Debili, Najet, Deloukas, Panos, Favier, Rémi, Fiedler, Janine, Hobbs, Catherine M, Huang, Ni, Hurles, Matthew E, Kiddle, Graham, Krapels, Ingrid, Nurden, Paquita, Ruivenkamp, Claudia A L, Sambrook, Jennifer G, Smith, Kenneth, Stemple, Derek L, Strauss, Gabriele, Thys, Chantal, van Geet, Christel, Newbury-Ecob, Ruth, Ouwehand, Willem H, Ghevaert, Cedric
Published 2012

The phenotypic spectrum of Schaaf-Yang syndrome – 18 new affected individuals from 14 families

by Fountain, Michael D., Aten, Emmelien, Cho, Megan T., Juusola, Jane, Walkiewicz, Magdalena A., Ray, Joseph W., Xia, Fan, Yang, Yaping, Graham, Brett H., Bacino, Carlos A., Potocki, Lorraine, van Haeringen, Arie, Ruivenkamp, Claudia A.L., Mancias, Pedro, Northrup, Hope, Kukolich, Mary K., Weiss, Marjan M., van Ravenswaaij-Arts, Conny M.A., Mathijssen, Inge B., Levesque, Sebastien, Meeks, Naomi, Rosenfeld, Jill A., Lemke, Danielle, Hamosh, Ada, Lewis, Suzanne K., Race, Simone, Stewart, Laura L., Hay, Beverly, Lewis, Andrea M., Guerreiro, Rita L., Bras, Jose T., Martins, Marcia P., Derksen-Lubsen, Gerarda, Peeters, Els, Stumpel, Connie, Stegmann, Sander, Bok, Levinus A., Santen, Gijs W.E., Schaaf, Christian P.
Published 2016

Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement

by Sun, Yu, Bak, Beata, Schoenmakers, Nadia, van Trotsenburg, A.S. Paul, Oostdijk, Wilma, Voshol, Peter, Cambridge, Emma, White, Jacqueline K., le Tissier, Paul, Gharavy, S. Neda Mousavy, Martinez-Barbera, Juan P., Stokvis-Brantsma, Wilhelmina H., Vulsma, Thomas, Kempers, Marlies J., Persani, Luca, Campi, Irene, Bonomi, Marco, Beck-Peccoz, Paolo, Zhu, Hongdong, Davis, Timothy M.E., Hokken-Koelega, Anita C.S., Del Blanco, Daria Gorbenko, Rangasami, Jayanti J., Ruivenkamp, Claudia A.L., Laros, Jeroen F.J., Kriek, Marjolein, Kant, Sarina G., Bosch, Cathy A.J., Biermasz, Nienke R., Appelman-Dijkstra, Natasha M., Corssmit, Eleonora P., Hovens, Guido C.J., Pereira, Alberto M., den Dunnen, Johan T., Wade, Michael G., Breuning, Martijn H., Hennekam, Raoul C., Chatterjee, Krishna, Dattani, Mehul T., Wit, Jan M., Bernard, Daniel J.
Published 2012

Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy

by Lemke, Johannes R., Geider, Kirsten, Helbig, Katherine L., Heyne, Henrike O., Schütz, Hannah, Hentschel, Julia, Courage, Carolina, Depienne, Christel, Nava, Caroline, Heron, Delphine, Møller, Rikke S., Hjalgrim, Helle, Lal, Dennis, Neubauer, Bernd A., Nürnberg, Peter, Thiele, Holger, Kurlemann, Gerhard, Arnold, Georgianne L., Bhambhani, Vikas, Bartholdi, Deborah, Pedurupillay, Christeen Ramane J., Misceo, Doriana, Frengen, Eirik, Strømme, Petter, Dlugos, Dennis J., Doherty, Emily S., Bijlsma, Emilia K., Ruivenkamp, Claudia A., Hoffer, Mariette J.V., Goldstein, Amy, Rajan, Deepa S., Narayanan, Vinodh, Ramsey, Keri, Belnap, Newell, Schrauwen, Isabelle, Richholt, Ryan, Koeleman, Bobby P.C., Sá, Joaquim, Mendonça, Carla, de Kovel, Carolien G.F., Weckhuysen, Sarah, Hardies, Katia, De Jonghe, Peter, De Meirleir, Linda, Milh, Mathieu, Badens, Catherine, Lebrun, Marine, Busa, Tiffany, Francannet, Christine, Piton, Amélie, Riesch, Erik, Biskup, Saskia, Vogt, Heinrich, Dorn, Thomas, Helbig, Ingo, Michaud, Jacques L., Laube, Bodo, Syrbe, Steffen
Published 2016