Institute of Human Genetics

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 Functional missense and splicing variants in the retinoic acid catabolizing enzyme CYP26C1 in idiopathic short stature (2019) Rappold GA, Montalbano A, Juergensen L, Fukami M, Thiel C, Hauer N, Roeth R, et al. Conference contribution Encephalopathies with KCNC1 variants: genotype-phenotype-functional correlations (2019) Cameron JM, Maljevic S, Nair U, Aung YH, Cogne B, Bezieau S, Blair E, et al. Journal article