Endele, S.; Rosenberger, G.; Geider, K.; Popp, B.; Tamer, C.; Stefanova, I.; Milh, M.; Kortum, F.; Fritsch, A.; Pientka, F. K. et al.; Hellenbroich, Y.; Kalscheuer, V. M.; Kohlhase, J.; Moog, U.; Rappold, G.; Rauch, A.; Ropers, H. H.; von Spiczak, S.; Tonnies, H.; Villeneuve, N.; Villard, L.; Zabel, B.; Zenker, M.; Laube, B.; Reis, A.; Wieczorek, D.; Van Maldergem, L.; Kutsche, K.: Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes. Nat Genet 42 (11), pp. 1021 - 6 (2010)

Rocha, P. P.; Bleiss, W.; Schrewe, H.: Mosaic Expression of Med12 in Female Mice Leads to Exencephaly, Spina Bifida, and Craniorachischisis. Birth Defects Research Part A: Clinical and Molecular Teratology 88 (8), pp. 626 - 632 (2010)

Slezak, R.; Luczak, K.; Kalscheuer, V.; Neumann, T. E.; Sasiadek, M. M.: Noonan-like/multiple giant cell lesion syndrome in two adult patients with SOS1 gene mutations. Clin Dysmorphol 19 (3), pp. 157 - 60 (2010)

Tzschach, A.; Bisgaard, A. M.; Kirchhoff, M.; Graul-Neumann, L. M.; Neitzel, H.; Page, S.; Ahmed, A.; Muller, 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. Eur J Hum Genet 18 (3), pp. 291 - 5 (2010)

Schulz, E. G.; Mariani, L.; Radbruch, A.; Höfer, T.: Sequential polarization and imprinting of type 1 T-helper lymphocytes by interferon-γ and interleukin-12. Immunity 30 (5), pp. 673 - 683 (2009)

Hu, H.; Wrogemann, K.; Kalscheuer, V.; Tzschach, A.; Richard, H.; Haas, S. A.; Menzel, C.; Bienek, M.; Froyen, G.; Raynaud, M. et al.; Van Bokhoven, H.; Chelly, J.; Ropers, H.; Chen, W.: Mutation screening in 86 known X-linked mental retardation genes by droplet-based multiplex PCR and massive parallel sequencing. Hugo J 3 (1-4), pp. 41 - 9 (2009)

Meierhofer, D.; Wang, X.; Huang, L.; Kaiser, P.: Quantitative analysis of global ubiquitination in HeLa cells by mass spectrometry. Journal of Proteome Research 7 (10), pp. 4566 - 4576 (2008)

Mayr, J. A.; Meierhofer, D.; Zimmermann, F.; Feichtinger, R.; Kögler, C.; Ratschek, M.; Schmeller, N.; Sperl, W.; Kofler, B.: Loss of complex I due to mitochondrial DNA mutations in renal oncocytoma. Clinical Cancer Research 14 (8), pp. 2270 - 2275 (2008)

Deutsch, E. W.; Ball, C. A.; Berman, J. J.; Bova, G. S.; Brazma, A.; Bumgarner, R. E.; Campbell, D.; Causton, H. C.; Christiansen, J. H.; Daian, F. et al.; Dauga, D.; Davidson, D. R.; Gimenez, G.; Goo, Y. A.; Grimmond, S.; Henrich, T.; Herrmann, B. G.; Johnson, M. H.; Korb, M.; Mills, J. C.; Oudes, A. J.; Parkinson, H. E.; Pascal, L. E.; Pollet, N.; Quackenbush, J.; Ramialison, M.; Ringwald, M.; Salgado, D.; Sansone, S.-A.; Sherlock, G.; Stoeckert, Jr, C. J.; Swedlow, J.; Taylor, R. C.; Walashek, L.; Warford, A.; Wilkinson, D. G.; Zhou, Y.; Zon, L. I.; Liu, A. Y.; True, L. D.: Minimum Information Specification For In Situ Hybridization and Immunohistochemistry Experiments (MISFISHIE). Nature biotechnology 26, pp. 305 - 312 (2008)

Schell-Apacik, C. C.; Wagner, K.; Bihler, M.; Ertl-Wagner, B.; Heinrich, U.; Klopocki, E.; Kalscheuer, V. M.; Muenke, M.; von Voss, H.: Agenesis and dysgenesis of the corpus callosum: clinical, genetic and neuroimaging findings in a series of 41 patients. Am J Med Genet A 146A (19), pp. 2501 - 11 (2008)

Mayr, J. A.; Zimmermann, F.; Meierhofer, D.; Schmeller, N.; Sperl, W.; Kofler, B.: Biochemical consequences of a pathogenic A3243G mtDNA mutation. Mitochondrion 6 (5), pp. 268 - 269 (2006)

Wiesbauer, M.; Meierhofer, D.; Mayr, J. A.; Sperl, W.; Paulweber, B.; Kofler, B.: Multiplex primer extension analysis for rapid detection of major European mitochondrial haplogroups. Electrophoresis 27 (19), pp. 3864 - 2868 (2006)

Dale, J. K.; Malapert, P.; Chal, J.; Vilhais-Neto, G.; Maroto, M.; Johnson , T.; Jayasinghe, S.; Paul, T.; Herrmann, B. G.; Pourquié, O.: Oscillations of the Snail Genes in the Presomitic Mesoderm Coordinate Segmental Patterning and Morphogenesis in Vertebrate Somitogenesis. Developmental Cell 10 (3), pp. 355 - 366 (2006)

Meierhofer, D.; Ebner, S.; Mayr, J. A.; Jones, N. D.; Kofler, B.; Sperl, W.: Platelet transfusion can mimic somatic mtDNA mutations. Leukemia: the Journal of Normal and Malignant Hemopoiese ; Official Journal of the Leukemia Research Fund U.K. 20 (2), pp. 362 - 363 (2006)

Meierhofer, D.; Mayr, J. A.; Fink, K.; Schmeller, N.; Kofler, B.; Sperl, W.: Mitochondrial DNA mutations in renal cell carcinomas revealed no general impact on energy metabolism. British Journal of Cancer 94 (2), pp. 268 - 274 (2006)

Gamerdinger, U.; Bosse, K.; Eggermann, T.; Kalscheuer, V.; Schwanitz, G.; Engels, H.: First report of a partial trisomy 3q12-q23 de novo--FISH breakpoint determination and phenotypic characterization. Eur J Med Genet 49 (3), pp. 225 - 34 (2006)

Tzschach, A.; Hoeltzenbein, M.; Hoffmann, K.; Menzel, C.; Beyer, A.; Ocker, V.; Wurster, G.; Raynaud, M.; Ropers, H. H.; Kalscheuer, V. et al.; Heilbronner, H.: Heterotaxy and cardiac defect in a girl with chromosome translocation t(X;1)(q26;p13.1) and involvement of ZIC3. Eur J Hum Genet 14 (12), pp. 1317 - 20 (2006)

Meierhofer, D.; Mayr, J. A.; Ebner, S.; Sperl, W.; Kofler, B.: Rapid screening of the entire mitochondrial DNA for low-level heteroplasmic mutations. Mitochondrion 5 (4), pp. 282 - 296 (2005)

Zi, Z.; Cho, K.-H.; Sung, M.-H.; Xia, X.; Zheng, J.; Sun, Z.: In silico identification of the key components and steps in IFN-γ induced JAK-STAT signaling pathway. FEBS Letters 579 (5), pp. 1101 - 1108 (2005)

Boonen, S. E.; Stahl, D.; Kreiborg, S.; Rosenberg, T.; Kalscheuer, V.; Larsen, L. A.; Tommerup, N.; Brondum-Nielsen, K.; Tumer, Z.: Delineation of an interstitial 9q22 deletion in basal cell nevus syndrome. Am J Med Genet A 132A (3), pp. 324 - 8 (2005)