Publications of V. M. Kalscheuer

Ricciardi, S.; Ungaro, F.; Hambrock, M.; Rademacher, N.; Stefanelli, G.; Brambilla, D.; Sessa, A.; Magagnotti, C.; Bachi, A.; Giarda, E. et al.; Verpelli, C.; Kilstrup-Nielsen, C.; Sala, C.; Kalscheuer, V. M.; Broccoli, V.: CDKL5 ensures excitatory synapse stability by reinforcing NGL-1-PSD95 interaction in the postsynaptic compartment and is impaired in patient iPSC-derived neurons. Nature Cell Biology 14 (9), pp. 911 - 923 (2012)

Kim, H.-G.; Kim, H. T.; Leach, N. T.; Lan, F.; Ullmann, R.; Silahtaroglu, A.; Kurth, I.; Nowka, A.; Seong, I. S.; Shen, Y. et al.; Talkowski, M. E.; Ruderfer, D.; Lee, J. H.; Glotzbach, C.; Ha, K.; Kjaergaard, S.; Levin, A. V.; Romeike, B. F.; Kleefstra, T.; Bartsch, O.; Elsea, S. H.; Jabs, E. W.; Macdonald, M. E.; Harris, D. J.; Quade, B. J.; Ropers, H.-H.; Shaffer, L. G.; Kutsche, K.; Layman, L. C.; Tommerup, N.; Kalscheuer, V. M.; Shi, Y.; Morton, C. C.; Kim, C. H.; Gusella, J. F.: Translocations Disrupting PHF21A in the Potocki-Shaffer-Syndrome Region Are Associated with Intellectual Disability and Craniofacial Anomalies. The American Journal of Human Genetics 91 (1), pp. 56 - 72 (2012)

Huppke, P.; Brendel, C.; Kalscheuer, V.; Korenke, G. C.; Marquardt, I.; Freisinger, P.; Christodoulou, J.; Hillebrand, M.; Pitelet, G.; Wilson, C. et al.; Gruber-Sedlmayr, U.; Ullmann, R.; Haas, S.; Elpeleg, O.; Nürnberg, G.; Nürnberg, P.; Dad, S.; Møller, L. B.; Kaler, S. G.; Gärtner, J.: Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin. The American Journal of Human Genetics 90 (1), pp. 61 - 8 (2012)

Emde, A. K.; Schulz, M. H.; Weese, D.; Sun, R.; Vingron, M.; Kalscheuer, V. M.; Haas, S.; Reinert, K.: Detecting genomic indel variants with exact breakpoints in single- and paired-end sequencing data using SplazerS. Bioinformatics 28 (5), pp. 619 - 27 (2012)

Höckner, M.; Spreiz, A.; Frühmesser, A.; Tzschach, A.; Dufke, A.; Rittinger, O.; Kalscheuer, V.; Singer, S.; Erdel, M.; Fauth, C. et al.; Grossmann, V.; Utermann, G.; Zschocke, J.; Kotzot, D.: Parental Origin of de novo Cytogenetically Balanced Reciprocal Non-Robertsonian Translocations. Cytogenetics and Genome Research 136 (4), pp. 242 - 245 (2012)

Singer, H.; Walier, M.; Nusgen, N.; Meesters, C.; Schreiner, F.; Woelfle, J.; Fimmers, R.; Wienker, T.; Kalscheuer, V. M.; Becker, T. et al.; Schwaab, R.; Oldenburg, J.; El-Maarri, O.: Methylation of L1Hs promoters is lower on the inactive X, has a tendency of being higher on autosomes in smaller genomes and shows inter-individual variability at some loci. Human Molecular Genetics 21 (1), pp. 219 - 35 (2012)

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)

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)

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)

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)

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)

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)

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)

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)

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)

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)

Kim, H.-G.; Ahn, J.-W.; Kurth, I.; Ullmann, R.; Kim, H.-T.; Kulharya, A.; Ha, K.-S.; Itokawa, Y.; Meliciani, I.; Wolfgang Wenzel, W. W. et al.; Lee, D.; Rosenberger, G.; Ozata, M.; Bick, D. P.; Sherins, R. J.; Nagase, T.; Tekin, M.; Kim, S.-H.; Kim, C.-H.; Ropers, H.-H.; Gusella, J. F.; Kalscheuer, V. M.; Choi, C. Y.; Layman, L. C.: WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. American Society of Human Genetics 87 (4), pp. 465 - 479 (2010)

Goswami, C.; Rademacher, N.; Smalla, K.-H.; Kalscheuer, V. M.; Ropers, H.-H.; Gundelfinger, E. D.; Hucho, T.: TRPV1 acts as a synaptic protein and regulates vesicle recycling. Journal of Cell Science 123 (12), pp. 2045 - 2057 (2010)

Hu, H.; Wrogemann, K.; Kalscheuer, V. M.; Tzschach, A.; Richard, H.; Haas, S. A.; Menzel, C.; Bienek, M.; Froyen, G.; Raynaud, M. et al.; Van Bokhoven, H.; Chelly, J.; Ropers, H.-H.; Chen, W.: Erratum to: Mutation screening in 86 known X-linked mental retardation genes by droplet-based multiplex PCR and massive parallel sequencing. The Hugo Journal 3 (1-4), p. 83 - 83 (2010)

Tzschach, A.; Menzel, C.; Erdogan, F.; Istifli, E. S.; Rieger, M.; Ovens-Raeder, A.; Macke, A.; Ropers, H.-H.; Ullmann, R.; Kalscheuer, V. M.: Characterization of an interstitial 4q32 deletion in a patient with mental retardation and a complex chromosome rearrangement. American Journal of Medical Genetics. Part A. 152A (4), pp. 1008 - 1012 (2010)