Institute of Human Genetics


Proteome-wide analysis of chaperone-mediated autophagy targeting motifs (2019) Kirchner P, Bourdenx M, Madrigal-Matute J, Tiano S, Diaz A, Bartholdy BA, Will B, Cuervo AM Journal article Dissecting TSC2-mutated renal and hepatic angiomyolipomas in an individual with ARID1B-associated intellectual disability (2019) Popp B, Agaimy A, Kraus C, Knaup K, Ekici AB, Uebe S, Reis A, et al. Journal article Magnetic Tissue Engineering of the Vocal Fold Using Superparamagnetic Iron Oxide Nanoparticles (2019) Poettler M, Fliedner A, Bergmann J, Bui LK, Mühlberger M, Braun C, Graw M, et al. Journal article Analyses of association of psoriatic arthritis and psoriasis vulgaris with functional NCF1 variants (2019) Löhr S, Ekici AB, Uebe S, Büttner C, Köhm M, Behrens F, Böhm B, et al. Journal article Intellectual disability and autism spectrum disorders 'on the fly': insights from Drosophila (2019) Coll-Tane M, Krebbers A, Castells-Nobau A, Zweier C, Schenck A Journal article, Review article Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures (2019) Zweier M, Begemann A, Mcwalter K, Cho MT, Abela L, Banka S, Behring B, et al. Journal article Th17 cells: a promising therapeutic target for Parkinson's disease? (2019) Prots I, Winner B Journal article, Review article Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunction (2019) Tiosano D, Baris HN, Chen A, Hitzert MM, Schüler M, Gulluni F, Wiesener A, et al. Journal article Prevalence of FOXC1 Variants in Individuals With a Suspected Diagnosis of Primary Congenital Glaucoma (2019) Siggs OM, Souzeau E, Pasutto F, Dubowsky A, Smith JEH, Taranath D, Pater J, et al. Journal article TCF4 (E2-2) harbors tumor suppressive functions in SHH medulloblastoma (2019) Hellwig M, Lauffer MC, Bockmayr M, Spohn M, Merk DJ, Harrison L, Ahlfeld J, et al. Journal article