Prof. Dr. André Wiesmann da Silva Reis

Lehrstuhl für Humangenetik

Familial acute aortic dissection associated with a novel ACTA2 germline variant (2022) Strecker T, Wiesmueller F, Rudnik-Schoeneborn S, Hoyer J, Wiesmann da Silva Reis A, Weyand M, Agaimy A Journal article Tyrosinase reduces expression of vascular endothelial growth factors and improves corneal graft survival (2022) Clahsen T, Hatami N, Büttner C, Reis A, Cursiefen C Conference contribution SRD5A3-CDG: Twins with an intragenic tandem duplication (2022) Rieger M, Türk M, Kraus C, Uebe S, Ekici AB, Krumbiegel M, Huchzermeyer C, et al. Journal article Astrogenesis in the murine dentate gyrus is a life-long and dynamic process (2022) Schneider J, Weigel J, Wittmann MT, Svehla P, Ehrt S, Zheng F, Elmzzahi T, et al. Journal article EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum (2022) Hüffmeier U, Kraus C, Reuter M, Uebe S, Abbott MA, Ahmed SA, Rawson KL, et al. Conference contribution Common RUNX3 missense variant contributes to psoriatic arthritis by modifying differentiation of CD8(+) T-cells (2022) Kerker I, Löhr S, Uebe S, Popp B, Vasileiou G, Bowes J, Kirchner P, et al. Conference contribution Investigating consanguineous families from Turkey to identify autosomal recessive neurodevelopmental disorders (2022) Gumuslu E, Guemues E, Oz O, Ozkan M, Karaer K, Ekici AB, Yildiz EP, et al. Conference contribution Microdeletions at 19p13.11 in four individuals with neurodevelopmental delay (2022) Rieger M, Moutton S, Verheyen S, Speicher M, Leheup B, Bonnet C, Steindl K, et al. Conference contribution De novo missense variants in FBXO11 alter its protein expression and subcellular localization (2022) Gregor A, Meerbrei T, Gerstner T, Toutain A, Lynch SA, Stals K, Maxton C, et al. Journal article, Original article Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling (2022) Holtz AM, VanCoillie R, Vansickle EA, Carere DA, Withrow K, Torti E, Juusola J, et al. Journal article