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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)

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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)

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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)

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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)

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Tzschach, A.; Bisgaard, A.-M.; Kirchhoff, M.; Graul-Neumann, L. M.; Neitzel, H.; Page, S.; Ahmed, A.; Müller, I.; Erdogan, F.; Ropers, H.-H. et al.; Kalscheuer, V. M.; Ullmann, R.: Chromosome aberrations involving 10q22: report of three overlapping interstitial deletions and a balanced translocation disrupting C10orf11. European Journal of Human Genetics: EJHG 18 (3), pp. 291 - 295 (2010)

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Tzschach, A.; Bisgaard, A.-M.; Kirchhoff, M.; Graul-Neumann, L. M.; Neitzel, H.; Page, S.; Ahmed, A.; Müller, I.; Erdogan, F.; Ropers, H.-H. et al.; Kalscheuer, V. M.; Ullmann, R.: Chromosome aberrations involving 10q22: report of three overlapping interstitial deletions and a balanced translocation disrupting C10orf11. European Journal of Human Genetics: EJHG 18 (3), pp. 291 - 295 (2010)

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Giannandrea, M.; Bianchi, V.; Mignogna, M. L.; Sirri, A.; Carrabino, S.; D'Elia, E.; Vecellio, M.; Russo, S.; Cogliati, F.; Larizza, L. et al.; Ropers, H.-H.; Tzschach, A.; Kalscheuer, V. M.; Oehl-Jaschkowitz, B.; Schwartz, C. E.; Gecz, J.; Van Esch, H.; Raynaud, M.; Chelly, J.; de Brouwer, A. P.M.; Toniolo, D.; D'Adamo, P.: Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly. The American Journal of Human Genetics 86 (2), pp. 185 - 195 (2010)

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Chen, W.; Ullmann, R.; Langnick, C.; Menzel, C.; Wotschofsky, Z.; Hu, H.; Döring, A.; Hu, Y.; Kang, H.; Tzschach, A. et al.; Hoeltzenbein, M.; Neitzel, H.; Markus, S.; Wiedersberg, E.; Kistner, G.; van Ravenswaaij-Arts, C. M. A.; Kleefstra, T.; Kalscheuer, V. M.; Ropers, H.-H.: Breakpoint analysis of balanced chromosome rearrangements by next-generation paired-end sequencing. European Journal of Human Genetics (2010)

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Córdova-Fletes, C.; Rademacher, N.; Müller, I.; Mundo-Ayala, J. N.; Morales-Jeanhs, E. A.; García-Ortiz, J. E.; León-Gil, A.; Rivera, H.; Domínguez, M. G.; Kalscheuer, V. M.: CDKL5 truncation due to a t(X;2)(p22.1;p25.3) in a girl with X-linked infantile spasm syndrome. Clinical Genetics 77 (1), pp. 92 - 96 (2010)

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Musante, L.; Kunde, S.-A.; Sulistio, T. O.; Frints, S. G.M.; Schwartz, C. E.; Martínez, F.; Romano, C.; Ropers, H.-H.; Kalscheuer, V. M.; Fischer, U. et al.; Grimme, A.: Common pathological mutations in PQBP1 induce nonsense-mediated mRNA decay and enhance exclusion of the mutant exon. Human Mutation 31 (1), pp. 90 - 98 (2010)

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