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Marbach-Breitrück, E.* et al.: Tick-tock hedgehog-mutual crosstalk with liver circadian clock promotes liver steatosis. J. Hepatol., accepted (2019)
Lehmann, L.H.* et al.: A proteolytic fragment of histone deacetylase 4 protects the heart from failure by regulating the hexosamine biosynthetic pathway. Nat. Med. 24, 62-72 (2018)
Lenz, D.* et al.: SCYL1 variants cause a syndrome with low gamma-glutamyl-transferase cholestasis, acute liver failure, and neurodegeneration (CALFAN). Genet. Med. 20, 1255-1265 (2018)
Thiel, C.* et al.: Severe ichthyosis in MPDU1-CDG. J. Inherit. Metab. Dis. 41, 1293-1294 (2018)
Weigand, T.* et al.: Carnosine catalyzes the formation of the oligo/polymeric products of methylglyoxal. Cell. Physiol. Biochem. 46, 713-726 (2018)
Gerst, F. et al.: Metabolic crosstalk between fatty pancreas and fatty liver: Effects on local inflammation and insulin secretion. Diabetologia 60, 2240-2251 (2017)
Reuter, M.S.* et al.: Diagnostic yield and novel candidate genes by exome sequencing in 152 consanguineous families with neurodevelopmental disorders. JAMA psychiatry 74, 293-299 (2017)
Van Damme, T.* et al.: Mutations in ATP6V1E1 or ATP6V1A cause autosomal-recessive cutis laxa. Am. J. Hum. Genet. 100, 216-227 (2017)
Staufner, C.* et al.: Recurrent acute liver failure due to NBAS deficiency: Phenotypic spectrum, disease mechanisms, and therapeutic concepts. J. Inherit. Metab. Dis. 39, 3-16 (2016)
Gabrys, L.* et al.: Akzelerometrie zur Erfassung körperlicher Aktivität: Empfehlungen zur Methodik. Sportwissenschaft 45, 1-9 (2015)
Haack, T.B. et al.: Biallelic mutations in NBAS cause recurrent acute liver failure with onset in infancy. Am. J. Hum. Genet. 97, 163-169 (2015)
Berschneider, B.* et al.: Regulation of WISP1 by microRNAs in pulmonary fibrosis. Int. J. Exp. Path. 94, A10-A11 (2013)