All Publications

Journal Article

Gilling, M.; Lind-Thomsen, A.; Mang, Y.; Bak, M.; Moller, M.; Ullmann, R.; Kristoffersson, U.; Kalscheuer, V. M.; Henriksen, K. F.; Bugge, M. et al.; Tumer, Z.; Tommerup, N.: Biparental inheritance of chromosomal abnormalities in male twins with non-syndromic mental retardation. Eur J Med Genet 54 (4), pp. e383 - 8 (2011)

MPG.PuRe

Journal Article

Jensen, L. R.; Chen, W.; Moser, B.; Lipkowitz, B.; Schroeder, C.; Musante, L.; Tzschach, A.; Kalscheuer, V. M.; Meloni, I.; Raynaud, M. et al.; van Esch, H.; Chelly, J.; de Brouwer, A. P.; Hackett, A.; van der Haar, S.; Henn, W.; Gecz, J.; Riess, O.; Bonin, M.; Reinhardt, R.; Ropers, H. H.; Kuss, A. W.: Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1. Eur J Hum Genet 19 (6), pp. 717 - 20 (2011)

MPG.PuRe

Journal Article

Kunde, S. A.; Musante, L.; Grimme, A.; Fischer, U.; Muller, E.; Wanker, E. E.; Kalscheuer, V. M.: The X-chromosome-linked intellectual disability protein PQBP1 is a component of neuronal RNA granules and regulates the appearance of stress granules. Hum Mol Genet 20 (24), pp. 4916 - 31 (2011)

MPG.PuRe

Journal Article

Love, M. I.; Mysickova, A.; Sun, R.; Kalscheuer, V. M.; Vingron, M.; Haas, S. A.: Modeling read counts for CNV detection in exome sequencing data. Statistical Applications in Genetics and Molecular Biology 10 (1) (2011)

MPG.PuRe

DOI

Full

publisher-version

Journal Article

Najmabadi, H.; Hu, H.; Garshasbi, M.; Zemojtel, T.; Abedini, S. S.; Chen, W.; Hosseini, M.; Behjati, F.; Haas, S.; Jamali, P. et al.; Zecha, A.; Mohseni, M.; Puttmann, L.; Vahid, L. N.; Jensen, C.; Moheb, L. A.; Bienek, M.; Larti, F.; Mueller, I.; Weissmann, R.; Darvish, H.; Wrogemann, K.; Hadavi, V.; Lipkowitz, B.; Esmaeeli-Nieh, S.; Wieczorek, D.; Kariminejad, R.; Firouzabadi, S. G.; Cohen, M.; Fattahi, Z.; Rost, I.; Mojahedi, F.; Hertzberg, C.; Dehghan, A.; Rajab, A.; Banavandi, M. J.; Hoffer, J.; Falah, M.; Musante, L.; Kalscheuer, V.; Ullmann, R.; Kuss, A. W.; Tzschach, A.; Kahrizi, K.; Ropers, H. H.: Deep sequencing reveals 50 novel genes for recessive cognitive disorders. Nature 478 (7367), pp. 57 - 63 (2011)

MPG.PuRe

Journal Article

Pagan, C.; Botros, H. G.; Poirier, K.; Dumaine, A.; Jamain, S.; Moreno, S.; de Brouwer, A.; Van Esch, H.; Delorme, R.; Launay, J. M. et al.; Tzschach, A.; Kalscheuer, V.; Lacombe, D.; Briault, S.; Laumonnier, F.; Raynaud, M.; van Bon, B. W.; Willemsen, M. H.; Leboyer, M.; Chelly, J.; Bourgeron, T.: Mutation screening of ASMT, the last enzyme of the melatonin pathway, in a large sample of patients with intellectual disability. BMC Med Genet 12, p. 17 (2011)

MPG.PuRe

Journal Article

Rademacher, N.; Hambrock, M.; Fischer, U.; Moser, B.; Ceulemans, B.; Lieb, W.; Boor, R.; Stefanova, I.; Gillessen-Kaesbach, G.; Runge, C. et al.; Korenke, G. C.; Spranger, S.; Laccone, F.; Tzschach, A.; Kalscheuer, V. M.: Identification of a novel CDKL5 exon and pathogenic mutations in patients with severe mental retardation, early-onset seizures and Rett-like features. Neurogenetics 12 (2), pp. 165 - 7 (2011)

MPG.PuRe

Journal Article

Schraders, M.; Haas, S. A.; Weegerink, N. J.; Oostrik, J.; Hu, H.; Hoefsloot, L. H.; Kannan, S.; Huygen, P. L.; Pennings, R. J.; Admiraal, R. J. et al.; Kalscheuer, V. M.; Kunst, H. P.; Kremer, H.: Next-generation sequencing identifies mutations of SMPX, which encodes the small muscle protein, X-linked, as a cause of progressive hearing impairment. Am J Hum Genet 88 (5), pp. 628 - 34 (2011)

MPG.PuRe

Journal Article

Schraders, M.; Haas, S. A.; Weegerink, N. J.; Oostrik, J.; Hu, H.; Hoefsloot, L. H.; Kannan, S.; Huygen, P. L.; Pennings, R. J.; Admiraal, R. J. et al.; Kalscheuer, V. M.; Kunst, H. P.; Kremer, H.: Next-generation sequencing identifies mutations of SMPX, which encodes the small muscle protein, X-linked, as a cause of progressive hearing impairment. Am J Hum Genet 88 (5), pp. 628 - 34 (2011)

MPG.PuRe

DOI

Journal Article

Strobl-Wildemann, G.; Kalscheuer, V. M.; Hu, H.; Wrogemann, K.; Ropers, H. H.; Tzschach, A.: Novel GDI1 mutation in a large family with nonsyndromic X-linked intellectual disability. Am J Med Genet A 155A (12), pp. 3067 - 70 (2011)

MPG.PuRe

All Publications

Journal Article (10)