Lehrstuhl für Humangenetik

Rare frameshift mutation in SERPINA3 contributes to generalized pustular psoriasis (2019) Hüffmeier U, Sticht H, Wenzel J, Wilsmann-Theis D, Wolff K, Löhr S, Frey B, et al. Conference contribution Genetic Interaction screen for severe neurodevelopmental disorders reveals a functional link between Ube3a and Mef2 in Drosophila melanogaster (2019) Straub J, Sauerer T, Fliedner A, Distel L, Suchy C, Ekici AB, Ferrazzi F, et al. Conference contribution, Abstract of a poster Exploring the phenotypical spectrum of BRD4 defects (2019) Hauer N, Vogl C, Popp B, Buettner C, Uebe S, Sticht H, Ekici AB, et al. Conference contribution Cost effectiveness of bilateral risk-reducing mastectomy and salpingo-oophorectomy (2019) Schrauder MG, Brunel-Geuder L, Häberle L, Wunderle M, Hoyer J, Csorba R, Reis A, et al. Journal article The protective variant rs7173049 at LOXL1 locus impacts on retinoic acid signaling pathway in pseudoexfoliation syndrome (2019) Berner D, Hoja U, Zenkel M, Ross JJ, Uebe S, Paoli D, Frezzotti P, et al. Journal article A novel human stem cell model for Coffin-Siris syndrome-like syndrome reveals the importance of SOX11 dosage for neuronal differentiation and survival (2019) Turan S, Börstler T, Kavyanifar A, Loskarn S, Reis A, Winner B, Lie DC Journal article Brittle-Cornea-Syndrom Typ 1 durch Compound-Heterozygotie zweier Mutationen im ZNF469-Gen (2019) Menzel-Severing J, Meiller R, Kraus C, Trollmann R, Atalay D Journal article Functional implication of the pseudoexfoliation-associated rare variant p.Y407F at LOXL1 (2019) Berner D, Hoja U, Zenkel M, Pasutto F, Lee MC, Aung T, Khor CC, et al. Conference contribution De novo missense variants in RHOBTB2 cause a developmental and epileptic encephalopathy in humans, and altered levels cause neurological defects in Drosophila (2019) Straub J, Konrad E, Grüner J, Toutain A, Bok LA, Cho MT, Crawford HP, et al. Conference contribution Mutations in the BAF-complex subunit DPF2 are associated with Coffin-Siris syndrome (2019) Vasileiou G, Vergarajauregui S, Endele S, Popp B, Büttner C, Ekici AB, Gerard M, et al. Conference contribution