Dr. rer. nat. Arif Bülent Ekici

Institute of Human Genetics

Two truncating variants in FANCC and breast cancer risk (2019) Dork T, Peterlongo P, Mannermaa A, Bolla MK, Wang Q, Dennis J, Ahearn T, et al. Journal article In Vivo Protein Complementation Demonstrates Presynaptic α-Synuclein Oligomerization and Age-Dependent Accumulation of 8–16-mer Oligomer Species (2019) Kiechle M, von Einem B, Höfs L, Voehringer P, Grozdanov V, Markx D, Parlato R, et al. Journal article CRISPR/Cas9-mediated knock-out of krasG12D mutated pancreatic cancer cell lines (2019) Lentsch E, Li L, Pfeffer S, Ekici AB, Taher L, Pilarsky C, Grützmann R Journal article Prenatal diagnosis of HNF1B-associated renal cysts: Is there a need to differentiate intragenic variants from 17q12 microdeletion syndrome? (2019) Vasileiou G, Hoyer J, Thiel C, Schaefer JT, Zapke M, Krumbiegel M, Kraus C, et al. Journal article Rare frameshift mutation in SERPINA3 contributes to generalized pustular psoriasis (2019) Hüffmeier U, Sticht H, Wenzel J, Wilsmann-Theis D, Wolff K, Löhr S, Frey B, et al. Conference contribution Genetic Interaction screen for severe neurodevelopmental disorders reveals a functional link between Ube3a and Mef2 in Drosophila melanogaster (2019) Straub J, Sauerer T, Fliedner A, Distel L, Suchy C, Ekici AB, Ferrazzi F, et al. Conference contribution, Abstract of a poster Exploring the phenotypical spectrum of BRD4 defects (2019) Hauer N, Vogl C, Popp B, Buettner C, Uebe S, Sticht H, Ekici AB, 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