Comprehensive genotyping and clinical characterisation reveal 27 novel NKX2-1 mutations and expand the phenotypic spectrum

- Thorwarth, Anne, Schnittert-Hüebener, Sarah, Ebert, Grit, Steininger, Anne, Böennemann, Carsten, Brockmann, Knut, Christen, Hans-Jürgen, Crock, Patricia, deZegher, Francis, Griese, Matthias, Hewitt, Jacqueline, Ivarsson, Sten, Schrumpf, Pamela, Hüebner, Christoph, Kapelari, Klaus, Plecko, Barbara, Rating, Dietz, Stoeva, Iva, Ropers, Hans-Hilger, Grüeters, Annette, Ullmann, Reinhard, Krude, Heiko, Müeller, Ines, Jyrch, Sabine, Dame, Christof, Biebermann, Heike, Kleinau, Gunnar, Katchanov, Juri, Schuelke, Markus

Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1

- Jensen, Lars R., Chen, Wei, van Esch, Hilde, Chelly, Jamel, de Brouwer , Arjan P. M., Hackett, Anna, van der Haar , Sigrun, Henn, Wolfram, Gecz, Jozef, Riess, Olaf, Bonin, Michael, Reinhardt, Richard, Moser, Bettina, Ropers, Hans-Hilger, Kuss, Andreas W., Lipkowitz, Bettina, Schroeder, Christopher, Musante, Luciana, Tzschach, Andreas, Kalscheuer, Vera M., Meloni, Ilaria, Raynaud, Martine

Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation

- Froyen, Guy, Corbett, Mark, Chelly, Jamel, Sanlaville, Damien, van Bokhoven, Hans, Ropers, Hans-Hilger, Laumonnier, Frederic, Ranieri, Enzo, Schwartz, Charles E., Abidi, Fatima, Tarpey, Patrick S., Futreal, P. Andrew, Vandewalle, Joke, Whibley, Annabel, Raymond, F. Lucy, Stratton, Michael R., Fryns, Jean-Pierre, Scott, Rodney, Peippo, Maarit, Sipponen, Marjatta, Partington, Michael, Mowat, David, Field, Michael, Jarvela, Irma, Hackett, Anna, Marynen, Peter, Turner, Gillian, Gécz, Jozef, Lawrence, Owen, Meldrum, Cliff, Bauters, Marijke, Govaerts, Karen, Vandeleur, Lucianne, Van Esch, Hilde