Dr. rer. nat. Steffen Uebe

Institute of Human Genetics

A Homozygous Mutation in GPT2 Associated with Nonsyndromic Intellectual Disability in a Consanguineous Family from Costa Rica (2017) Lobo-Prada T, Sticht H, Bogantes-Ledezma S, Ekici AB, Uebe S, Reis A, Leal A Journal article High resolution chromosomal microarray analysis in paediatric obsessive-compulsive disorder (2017) Grünblatt E, Oneda B, Ekici AB, Ball J, Geissler J, Uebe S, Romanos M, et al. Journal article Genetic screening confirms heterozygous mutations in ACAN as a major cause of idiopathic short stature (2017) Hauer N, Sticht H, Boppudi S, Büttner C, Kraus C, Trautmann U, Zenker M, et al. Journal article Expanding the clinical spectrum of COL1A1 mutations in different forms of glaucoma (2016) Mauri L, Uebe S, Sticht H, Vossmerbaeumer U, Weisschuh N, Manfredini E, Maselli E, et al. Journal article Choline transporter-like1 (CHER1) is crucial for plasmodesmata maturation in Arabidopsis thaliana (2016) Kraner M, Link K, Melzer M, Ekici AB, Uebe S, Tarazona P, Feussner I, et al. Journal article Replication of a distinct psoriatic arthritis risk variant at the IL23R locus (2016) Budu-Aggrey A, Bowes J, Loehr S, Uebe S, Zervou MI, Helliwell P, Ryan AW, et al. Journal article Association analysis of psoriasis vulgaris and psoriatic arthritis with loss-of-function mutations in IL36RN in German patients (2016) Loehr S, Uebe S, Behrens F, Boehm B, Koehm M, Traupe H, Oji V, et al. Journal article DYNC2LI1 mutations broaden the clinical spectrum of dynein-2 defects (2015) Keßler K, Wunderlich I, Uebe S, Falk N, Gießl A, Brandstätter JH, Popp B, et al. Journal article Mutations in DCPS and EDC3 in autosomal recessive intellectual disability indicate a crucial role for mRNA decapping in neurodevelopment (2015) Ahmed I, Buchert R, Zhou M, Jiao X, Mittal K, Sheikh TI, Scheller U, et al. Journal article MAP4-dependent regulation of microtubule formation affects centrosome, cilia, and golgi architecture as a central mechanism in growth regulation (2015) Zahnleiter D, Hauer N, Keßler K, Uebe S, Sugano Y, Neuhauss SCF, Gießl A, et al. Journal article