All Publications

Huang, L.; Jolly, L. A.; Willis-Owen, S.; Gardner, A.; Kumar, R.; Douglas, E.; Shoubridge, C.; Wieczorek, D.; Tzschach, A.; Cohen, M. et al.; Hackett, A.; Field, M.; Froyen, G.; Hu, H. C.; Haas, S.; Ropers, H.-H.; Kalscheuer, V. M.; Corbett, M. A.; Gecz, J.: A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability. The American Journal of Human Genetics 91 (4), pp. 694 - 702 (2012)

Zanni, G.; Cali, T.; Kalscheuer, V. M.; Ottolini, D.; Barresi, S.; Lebrun, N.; Montecchi-Palazzi, L.; Hu, H.; Chelly, J.; Bertini, E. et al.; Brini, M.; Carafoli, E.: Mutation of plasma membrane Ca2+ ATPase isoform 3 in a family with X-linked congenital cerebellar ataxia impairs Ca2+ homeostasis. Proceedings of the National Academy of Sciences of the United States of America 109 (36), pp. 14514 - 14519 (2012)

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)