Institute of Human Genetics

Biallelic ANKS6 mutations cause late-onset ciliopathy with chronic kidney disease through YAP dysregulation (2021) Schwarz H, Popp B, Airik R, Torabi Sarijalo N, Knaup K, Stoeckert J, Wiech T, et al. Journal article, Original article 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