Institute of Human Genetics

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 Th17 Lymphocytes Induce Neuronal Cell Death in a Human iPSC-Based Model of Parkinson's Disease (2019) Sommer A, Marxreiter F, Krach F, Fadler T, Grosch J, Maroni M, Gräf D, et al. Journal article, Erratum The role of Nav1.7 in human nociceptors: Insights from human induced pluripotent stem cell-derived sensory neurons of erythromelalgia patients (2019) Meents JE, Bressan E, Sontag S, Foerster A, Hautvast P, Rösseler C, Hampl M, et al. Journal article IMPACT OF INTERLEUKIN 17 BLOCKING AGENT ON CLINICAL OUTCOME IN SAPHO PATIENTS (2019) Assmann G, Bittenbring JT, Wagner AD, Schreiber M, Christofyllakis K, Hüffmeier U, Pfoehler C, Neumann F Conference contribution