Lehrstuhl für Humangenetik

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 Hobit- and Blimp-1-driven CD4(+) tissue-resident memory T cells control chronic intestinal inflammation (2019) Zundler S, Becker E, Spocinska M, Slawik M, Parga-Vidal L, Stark R, Wiendl M, et al. Journal article The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy (2019) Hebebrand M, Hüffmeier U, Trollmann R, Hehr U, Uebe S, Ekici AB, Kraus C, et al. Journal article Generation and Validation of Human Pluripotent Stern Cell Disease Models Using CRISPR/Cas9 Genome Engineering (2019) Turan S, Kavyanifar A, Wend H, Pozner T, Loskam S, Kaindl J, Lanfer J, et al. Conference contribution Tyrosinase is a novel endogenous inhibitor of lymphangiogenesis (2019) Clahsen T, Büttner C, Regenfuss B, Gabriel T, Bock F, Reis A, Cursiefen C Conference contribution Disease Modeling of Neuropsychiatric Brain Disorders Using Human Stem Cell-Based Neural Models (2019) Kaindl J, Winner B Book chapter / Article in edited volumes Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language (2019) Blok LS, Rousseau J, Twist J, Ehresmann S, Takaku M, Venselaar H, Rodan LH, et al. Journal article, Erratum CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language (vol 9, 4619, 2018) (2019) Blok LS, Rousseau J, Twist J, Ehresmann S, Takaku M, Venselaar H, Rodan LH, et al. Journal article, Erratum