Prof. Dr. André Wiesmann da Silva Reis

Lehrstuhl für Humangenetik

PHENOTYPE OF VULNERABLE ATHEROSCLEROTIC PLAQUES SHOWS STRONG ASSOCIATION WITH SINGLE NUCLEOTIDE POLYMORPHISM ALLELES OF COMMON RISK VARIANTS FOR CORONARY ARTERY DISEASE (2016) Furtmair R, Kühn C, Koenig C, Ekici AB, Klinghammer L, Achenbach S, Reis A, et al. Conference contribution 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 ?-Synuclein-induced myelination deficit defines a novel interventional target for multiple system atrophy (2016) Ettle B, Kerman BE, Valera E, Gillmann C, Schlachetzki J, Reiprich S, Büttner C, et al. Journal article Expanding the Phenotype Associated with NAA10-Related N-Terminal Acetylation Deficiency (2016) Saunier C, Stove SI, Popp B, Gerard B, Blenski M, Ahmew N, De Bie C, et al. Journal article Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition (2016) Kuechler A, Czeschik JC, Graf E, Grasshoff U, Hüffmeier U, Busa T, Beck-Woedl S, et al. Journal article Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly (2016) Breuss MW, Sultan T, James KN, Rosti RO, Scott E, Musaev D, Furia B, et al. Journal article, Erratum Do the exome: A case of Williams-Beuren syndrome with severe epilepsy due to a truncating de novo variant in GABRA1 (2016) Popp B, Trollmann R, Büttner C, Caliebe A, Thiel C, Hüffmeier U, Reis A, Zweier C Journal article SPATA5 mutations cause a distinct autosomal recessive phenotype of intellectual disability, hypotonia and hearing loss (2016) Buchert R, Nesbitt AI, Tawamie H, Krantz ID, Medne L, Helbig I, Matalon DR, 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