Prof. Dr. André Wiesmann da Silva Reis

Lehrstuhl für Humangenetik

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 CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language (2018) Blok LS, Rousseau J, Twist J, Ehresmann S, Takaku M, Venselaar H, Rodan LH, et al. Journal article De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation (2018) Basilicata MF, Bruel AL, Semplicio G, Valsecchi CIK, Aktas T, Duffourd Y, Rumpf T, et al. Journal article