Krawitz, P. M.; Murakami, Y.; Hecht, J.; Kruger, U.; Holder, S. E.; Mortier, G. R.; Delle Chiaie, B.; De Baere, E.; Thompson, M. D.; Roscioli, T. et al.; Kielbasa, S. M.; Kinoshita, T.; Mundlos, S.; Robinson, P. N.; Horn, D.: Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation. American Journal of Human Genetics 91 (1), S. 146 - 151 (2012)

Zi, Z.; Chapnick, D. A.; Liu, X.: Dynamics of TGF-β/Smad signaling. FEBS Letters 586 (14), S. 1921 - 1928 (2012)

Drews, K.; Jozefczuk, J.; Prigione, A.; Adjaye, J.: Human induced pluripotent stem cells--from mechanisms to clinical applications. Journal of Molecular Medicine-JMM 90 (7), S. 735 - 745 (2012)

Kamburov, A.; Stelzl, U.; Herwig, R.: IntScore: a web tool for confidence scoring of biological interactions. Nucleic Acids Research (London) 40 (Web Server issue), S. W140 - W146 (2012)

Ott, C. E.; Hein, H.; Lohan, S.; Hoogeboom, J.; Foulds, N.; Grunhagen, J.; Stricker, S.; Villavicencio-Lorini, P.; Klopocki, E.; Mundlos, S.: Microduplications upstream of MSX2 are associated with a phenocopy of cleidocranial dysplasia. Journal of Medical Genetics (London) 49 (7), S. 437 - 441 (2012)

Ropers, H.-H.: On the future of genetic risk assessment. Journal of Community Genetics 3 (3), S. 229 - 236 (2012)

Rosenfeld, J. A.; Traylor, R. N.; Schaefer, G. B.; McPherson, E. W.; Ballif, B. C.; Klopocki, E.; Mundlos, S.; Shaffer, L. G.; Aylsworth, A. S.: Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes. European journal og human genetics: EJHG ; the official journal of the European Society of Human Genetics 20 (7), S. 754 - 761 (2012)

Schimek, M. G.; Mysickova, A.; Budinská, E.: An Inference and Integration Approach for the Consolidation of Ranked Lists. Communications in Statistics - Simulation and Computation 41 (7), S. 1152 - 1166 (2012)

Wallace, B. C.; Small, K.; Brodley, C. E.; Lau, J.; Schmid, C. H.; Bertram, L.; Lill, C. M.; Cohen, J. T.; Trikalinos, T. A.: Toward modernizing the systematic review pipeline in genetics: efficient updating via data mining. GENETICS IN MEDICINE 14 (7), S. 663 - 669 (2012)

Abu Dawud, R.; Schreiber, K.; Schomburg, D.; Adjaye, J.: Human embryonic stem cells and embryonal carcinoma cells have overlapping and distinct metabolic signatures. PLoS One 7 (6), S. e39896 - e39896 (2012)

Pin, P. A.; Zhang, W.; Vogt, S. H.; Dally, N.; Büttner, B.; Schulze-Buxloh, G.; Jelly, N. S.; Chia, T. Y.P.; Mutasa-Gottgens, E. S.; Dohm, J. C. et al.; Himmelbauer, H.; Weisshaar, B.; Kraus, J.; Gielen, J. J.L.; Lommel, M.; Weyens, G.; Wahl, B.; Schechert, A.; Nilsson, O.; Jung, C.; Kraft, T.; Müller, A. E.: The role of a pseudo-response regulator gene in life cycle adaptation and domestication of beet. Current Biology 22 (12), S. 1095 - 1101 (2012)

Sultan, M.; Dokel, S.; Amstislavskiy, V.; Wuttig, D.; Sultmann, H.; Lehrach, H.; Yaspo, M. L.: A simple strand-specific RNA-Seq library preparation protocol combining the Illumina TruSeq RNA and the dUTP methods. Biochemical and Biophysical Research Communications 422 (4), S. 643 - 646 (2012)

Ni, S.; Vingron, M.: R2KS: a novel measure for comparing gene expression based on ranked gene lists. Journal of Computational Biology 19 (6), S. 766 - 775 (2012)

Drews, K.; Tavernier, G.; Demeester, J.; Lehrach, H.; de Smedt, S. C.; Rejman, J.; Adjaye, J.: The cytotoxic and immunogenic hurdles associated with non-viral mRNA-mediated reprogramming of human fibroblasts. Biomaterials 33 (16), S. 4059 - 4068 (2012)

Kliem, M.; Sauer, S.: The essence on mass spectrometry based microbial diagnostics. Current Opinion in Microbiology 15 (3), S. 397 - 402 (2012)

Klopocki, E.; Kaehler, C.; Foulds, N.; Shah, H.; Joseph, B.; Vogel, H.; Luttgen, S.; Bald, R.; Besoke, R.; Held, K. et al.; Mundlos, S.; Kurth, I.: Deletions in PITX1 cause a spectrum of lower-limb malformations including mirror-image polydactyly. European journal og human genetics: EJHG ; the official journal of the European Society of Human Genetics 20 (6), S. 705 - 708 (2012)

Lill, C. M.; Zipp, F.: [The genetic profile of multiple sclerosis: risk genes and the "dark matter"]. Der Nervenarzt 83 (6), S. 705 - 713 (2012)

Querfurth, R.; Fischer, A.; Schweiger, M. R.; Lehrach, H.; Mertes, F.: Creation and application of immortalized bait libraries for targeted enrichment and next-generation sequencing. Biotechniques 52 (6), S. 375 - 380 (2012)

Welzel, F.; Kaehler, C.; Isau, M.; Hallen, L.; Lehrach, H.; Krobitsch, S.: FOX-2 dependent splicing of ataxin-2 transcript is affected by ataxin-1 overexpression. PLoS One 7 (5), S. e37985 - e37985 (2012)

Ziv, L.; Muto, A.; Schoonheim, P. J.; Meijsing, S. H.; Strasser, D.; Ingraham, H. A.; Schaaf, M. J.; Yamamoto, K. R.; Baier, H.: An affective disorder in zebrafish with mutation of the glucocorticoid receptor. Molecular Psychiatry 18 (6), S. 681 - 91 (2012)