Prof. Dr. André Wiesmann da Silva Reis

Lehrstuhl für Humangenetik

Mitochondrial DNA copy number is associated with mortality and infections in a large cohort of patients with chronic kidney disease (2019) Fazzini F, Lamina C, Fendt L, Schultheiss UT, Kotsis F, Hicks AA, Meiselbach H, et al. Journal article Evolutionary conserved networks of human height identify multiple Mendelian causes of short stature (2019) Hauer N, Popp B, Taher L, Vogl C, Dhandapany PS, Büttner C, Uebe S, et al. Journal article TRIM28 haploinsufficiency predisposes to Wilms tumor (2019) Diets IJ, Hoyer J, Ekici AB, Popp B, Hoogerbrugge N, van Reijmersdal SV, Bhaskaran R, et al. Journal article 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