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Graw, J. ; Vetrivel, S. ; Fuchs, H. ; Sabrautzki, S. & Tiso, N.*: Mutation in the mouse histone gene Hist2h3c1 leads to degeneration of the lens vesicle and severe microphthalmia. Vortrag: EVER-Meeting 2019, 17-19 October 2019, Nizza. (2019)
Vetrivel, S. et al.: Mutation in the mouse histone gene Hist2h3c1 leads to degeneration of the lens vesicle and severe microphthalmia. Exp. Eye Res., accepted (2019)
Pastor-Arroyo, E.M.* et al.: The elevation of circulating fibroblast growth factor 23 without kidney disease does not increase cardiovascular disease risk. Kidney Int. 94, 49-59 (2018)
Kumar, S.* et al.: Standardized, systemic phenotypic analysis reveals kidney dysfunction as main alteration of Kctd1I27N mutant mice. J. Biomed. Sci. 24:57 (2017)
Perez-Rivas, L.G.* et al.: Genetic characterization of a mouse line with primary aldosteronism. J. Mol. Endocrinol. 58, 67-68 (2017)
Sabrautzki, S. et al.: Point mutation of Ffar1 abrogates fatty acid-dependent insulin secretion, but protects against HFD-induced glucose intolerance. Mol. Metab. 6, 1304-1312 (2017)
Diener, S. et al.: Exome sequencing identifies a nonsense mutation in Fam46a associated with bone abnormalities in a new mouse model for skeletal dysplasia. Mamm. Genome 27, 111-121 (2016)
Fuchs, H. et al.: The first Scube3 mutant mouse line with pleiotropic phenotypic alterations. Genes Genomes Genetics G3 6, 4035-4046 (2016)
Kumar, S.* et al.: Generation and standardized, systemic phenotypic analysis of Pou3f3L423P mutant mice. PLoS ONE 11:e0150472 (2016)
Sabrautzki, S. et al.: Viable EdnraY129F mice feature human mandibulofacial dysostosis with alopecia (MFDA) syndrome due to the homologue mutation. Mamm. Genome 27, 587-598 (2016)
Derdak, S.* et al.: Genomic characterization of mutant laboratory mouse strains by exome sequencing and annotation lift-over. BMC Genomics 16:351 (2015)
Kunze, S. et al.: New mutation in the mouse Xpd/Ercc2 gene leads to recessive cataracts. PLoS ONE 10:e0125304 (2015)
Rathkolb, B. et al.: Screen for alterations of iron related parameters in N-ethyl-N-nitrosurea-treated mice identified mutant lines with increased plasma ferritin levels. Biometals 28, 293-306 (2015)
Kaiser, G. et al.: Defective compensatory insulin secretion causes HFD-induced glucose intolerance in mice with point mutation in free fatty acid receptor 1. Diabetologia 57, S172 (2014)
Yan, X. et al.: Peroxidasin is essential for eye development in the mouse. Hum. Mol. Genet. 23, 5597-5614 (2014)
Parzefall, T.* et al.: Cytoplasmic mislocalization of POU3F4 due to novel mutations leads to deafness in humans and mice. Hum. Mutat. 34, 1102-1110 (2013)
Puk, O. et al.: Novel small-eye allele in paired box gene 6 (Pax6) is caused by a point mutation in intron 7 and creates a new exon. Mol. Vis. 19, 877-884 (2013)
Sabrautzki, S. et al.: An ENU mutagenesis-derived mouse model with a dominant Jak1 mutation resembling phenotypes of systemic autoimmune disease. Am. J. Pathol. 183, 352-368 (2013)
Fuchs, H. et al.: Does enamelin have pleiotropic effects on organs other than the teeth? Lessons from a phenotyping screen of two enamelin-mutant mouse lines. Eur. J. Oral Sci. 120, 269-277 (2012)
Ordoñez-Rueda, D.* et al.: A hypomorphic mutation in the Gfi1 transcriptional repressor results in a novel form of neutropenia. Eur. J. Immunol. 42, 2395-2408 (2012)