Dr. rer. nat. Steffen Uebe

Institute of Human Genetics

A biallelic truncating AEBP1 variant causes connective tissue disorder in two siblings (2018) Hebebrand M, Vasileiou G, Krumbiegel M, Kraus C, Uebe S, Ekici AB, Thiel C, et al. Journal article The polynucleotide kinase 3'-phosphatase gene (PNKP) is involved in Charcot-Marie-Tooth disease (CMT2B2) previously related to MED25 (2018) Leal A, Bogantes-Ledezma S, Ekici AB, Uebe S, Thiel C, Sticht H, Berghoff M, et al. Journal article Microphthalmia is not a mandatory finding in X-linked recessive syndromic microphthalmia caused by the recurrent BCOR variant p.Pro85Leu (2018) Kraus C, Uebe S, Thiel C, Ekici AB, Reis A, Zweier C Journal article Need for high-resolution Genetic Analysis in iPSC: Results and Lessons from the ForIPS Consortium (2018) Popp B, Krumbiegel M, Grosch J, Sommer A, Uebe S, Kohl Z, Ploetz S, et al. Journal article Addition of triple negativity of breast cancer as an indicator for germline mutations in predisposing genes increases sensitivity of clinical selection criteria (2018) Hoyer J, Vasileiou G, Uebe S, Wunderle M, Kraus C, Fasching P, Thiel C, et al. Journal article RNA-seq and pathway analysis of ocular tissues in PEX patients and healthy subjects (2018) Pasutto F, Zenkel M, Berner D, Uebe S, Ekici AB, Kruse F, Reis A, Schlötzer-Schrehardt U Conference contribution Biallelic intragenic deletion in MASP1 in an adult female with 3MC syndrome (2018) Graul-Neumann LM, Mensah MA, Klopocki E, Uebe S, Ekici AB, Thiel C, Reis A, Zweier C Journal article Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature (2018) Hauer N, Popp B, Schoeller E, Schuhmann S, Heath KE, Hisado-Oliva A, Klinger P, et al. Journal article T cells are influenced by a long non-coding RNA in the autoimmune associated PTPN2 locus (2018) Houtman M, Shchetynsky K, Chemin K, Hensvold AH, Ramskold D, Tandre K, Eloranta ML, et al. Journal article Integrative bioinformatics analysis characterizing the role of EDC3 in mRNA decay and its association to intellectual disability (2018) Scheller U, Pfisterer K, Uebe S, Ekici AB, Reis A, Jamra R, Ferrazzi F Journal article