Institute of Human Genetics

Perifoveal cone- And rod-mediated temporal contrast sensitivities in stargardt disease/fundus flavimaculatus (2021) Fars J, Pasutto F, Kremers J, Huchzermeyer C Journal article 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 Experimental epileptogenesis in a cell culture model of primary neurons from rat brain: A temporal multi‐scale study (2021) Jablonski J, Hoffmann L, Blümcke I, Fejtová A, Uebe S, Ekici AB, Gnatkovsky V, Kobow K Journal article, Original article 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 Myogenin controls via AKAP6 non-centrosomal microtubule-organizing center formation at the nuclear envelope (2021) Becker R, Vergarajauregui S, Billing F, Sharkova M, Lippolis E, Mamchaoui K, Ferrazzi F, Engel F 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