Institute of Human Genetics

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 Identifying Genes that Underlie Exfoliation Syndrome using Genetically Determined Gene Expression (2019) Hirbo J, Pasutto F, Pawar P, Sealock J, Evans P, Gamazon E, Tao R, et al. Conference contribution A potential role for impaired retinoic acid signaling in the pathophysiology of pseudoexfoliation syndrome/glaucoma (2019) Zenkel M, Berner D, Hoja U, Pasutto F, Kruse F, Schlötzer-Schrehardt U 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 Identification of novel candidate genes for idiopathic short stature using whole exome sequencing (2019) Thiel C, Hauer N, Vogl C, Ahmadian R, Dhandapany PS, Popp B, Buettner C, et al. Conference contribution Association analyses of functional NCF1 variants in psoriatic arthritis and psoriasis vulgaris (2019) Hüffmeier U, Löhr S, Ekici AB, Uebe S, Koehm M, Behrens F, Boehm B, et al. Conference contribution