Prof. Dr. André Wiesmann da Silva Reis

Lehrstuhl für Humangenetik

Mutant RAMP2 causes primary open-angle glaucoma via the CRLR-cAMP axis (2019) Gong B, Zhang H, Huang L, Chen Y, Shi Y, Tam POS, Zhu X, et al. Journal article Inflammation-induced glycolytic switch controls suppressivity of mesenchymal stem cells via STAT1 glycosylation (2019) Jitschin R, Böttcher M, Saul D, Lukassen S, Bruns H, Loschinski R, Ekici AB, et al. Journal article α-Synuclein oligomers induce early axonal dysfunction in human iPSC-based models of synucleinopathies (2018) Prots I, Grosch J, Brazdis RM, Simmnacher K, Veber V, Havlicek S, Hannappel C, et al. Journal article Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome (2018) Vasileiou G, Vergarajauregui S, Endele S, Popp B, Büttner C, Ekici AB, Gerard M, et al. Journal article Variants in PUS7 Cause Intellectual Disability with Speech Delay, Microcephaly, Short Stature, and Aggressive Behavior (2018) De Brouwer APM, Abou Jamra R, Koertel N, Soyris C, Polla DL, Safra M, Zisso A, et al. Journal article 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 Novel truncating mutation in CACNA1F in a young male patient diagnosed with optic atrophy (2018) Pasutto F, Ekici AB, Reis A, Kremers J, Huchzermeyer C Journal article