Dr. rer. nat. Steffen Uebe

Institute of Human Genetics

Autosomal-Recessive Intellectual Disability with Cerebellar Atrophy Syndrome Caused by Mutation of the Manganese and Zinc Transporter Gene SLC39A8 (2015) Boycott KM, Beaulieu CL, Kernohan KD, Gebril OH, Mhanni A, Chudley AE, Redl D, et al. Journal article Palmoplantar Pustular Psoriasis Is Associated with Missense Variants in CARD14, but Not with Loss-of-Function Mutations in IL36RN in European Patients (2015) Moessner R, Frambach Y, Wilsmann-Theis D, Loehr S, Jacobi A, Weyergraf A, Mueller M, et al. Journal article Genetic variants and cellular stressors associated with exfoliation syndrome modulate promoter activity of a lncRNA within the LOXL1 locus (2015) Hauser MA, Aboobakar IF, Liu Y, Miura S, Whigham BT, Challa P, Wheeler J, et al. Journal article A common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome (2015) Aung T, Ozaki M, Mizoguchi T, Allingham RR, Li Z, Haripriya A, Nakano S, et al. Journal article Dense genotyping of immune-related susceptibility loci reveals new insights into the genetics of psoriatic arthritis (2015) Bowes J, Budu-Aggrey A, Hüffmeier U, Uebe S, Steel K, Hebert HL, Wallace C, et al. Journal article Recurrent null mutation in SPG20 leads to Troyer syndrome (2015) Tawamie H, Wohlleber E, Uebe S, Schmael C, Noethen MM, Abou Jamra R Journal article PTPN22 is associated with susceptibility to psoriatic arthritis but not psoriasis: evidence for a further PsA-specific risk locus (2015) Bowes J, Loehr S, Budu-Aggrey A, Uebe S, Bruce IN, Feletar M, Marzo-Ortega H, et al. Journal article Novel loci for non-syndromic coarctation of the aorta in sporadic and familial cases (2015) Moosmann J, Uebe S, Dittrich S, Rueffer A, Ekici AB, Toka O Journal article A Peroxisomal Disorder of Severe Intellectual Disability, Epilepsy, and Cataracts Due to Fatty Acyl-CoA Reductase 1 Deficiency (2014) Buchert R, Tawamie H, Smith C, Uebe S, Innes AM, Al Hallak B, Ekici AB, et al. Journal article HIBCH deficiency in a patient with phenotypic characteristics of mitochondrial disorders (2014) Reuter M, Sass JO, Leis T, Koehler J, Mayr JA, Feichtinger RG, Rauh M, et al. Journal article