Lehrstuhl für Humangenetik

Genetic diagnostic yield in a large cohort of patients with developmental and epileptic encephalopathy from Latin America: a preliminary report (2021) De Moraes HT, Urquia-Osorio H, Cavalcante CM, Guerreiro MM, Montenegro MA, Coan AC, Medina MT, et al. Conference contribution Germline variants and breast cancer survival in patients with distant metastases at primary breast cancer diagnosis (2021) Escala-Garcia M, Canisius S, Keeman R, Beesley J, Anton-Culver H, Arndt V, Augustinsson A, et al. Journal article Genetically Single Generation and characterization of an endogenously tagged SPG11-human iPSC line by CRISPR/Cas9 mediated knock-in (2021) Krumm L, Pozner T, Kaindl J, Regensburger M, Günther C, Turan S, Asadollahi R, et al. Journal article Transcriptomes of MPO-deficient patients with generalized pustular psoriasis reveals expansion of CD4+cytotoxic T cells and an involvement of complement system and interferon pathways (2021) Hüffmeier U, Frey B, Becker I, Atreya I, Berking C, Moessner R, Wilsmann-Theis D, et al. Conference contribution The recurrent missense mutation p.(Arg367Trp) in YARS1 causes a distinct neurodevelopmental phenotype (2021) Averdunk L, Sticht H, Surowy H, Luedecke HJ, Koch-Hogrebe M, Alsaif HS, Kahrizi K, et al. Journal article Manifestation of epilepsy in a patient with EED-related overgrowth (Cohen-Gibson syndrome) (2021) Hetzelt K, Winterholler M, Kerling F, Rauch C, Ekici AB, Winterpacht A, Vasileiou G, et al. Journal article Editorial: Intracellular Mechanisms of α-Synuclein Processing. (2021) Zunke F, Winner B, Richter F, Caraveo G Journal article, Editorial STAT1 coordinates intestinal epithelial cell death during gastrointestinal infection upstream of Caspase-8 (2021) Stolzer I, Schickedanz L, Chiriac MT, López-Posadas R, Grassl GA, Mattner J, Wirtz S, et al. Journal article Generation and characterization of an endogenously tagged SPG11-human iPSC line by CRISPR/Cas9 mediated knock-in (2021) Winner B, Krumm L, Pozner T, Kaindl J, Regensburger M, Günther C, Turan S, et al. Journal article, Original article Association of germline genetic variants with breast cancer-specific survival in patient subgroups defined by clinic-pathological variables related to tumor biology and type of systemic treatment (2021) Morra A, Escala-Garcia M, Beesley J, Keeman R, Canisius S, Ahearn TU, Andrulis IL, et al. Journal article