Institute of Human Genetics

Dysfunction of spatacsin leads to axonal pathology in SPG11-linked hereditary spastic paraplegia (2014) Perez-Branguli F, Mishra HK, Prots I, Havlicek S, Kohl Z, Saul D, Rummel C, et al. Journal article Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations (2014) Basel-Vanagaite L, Yilmaz R, Tang S, Reuter M, Rahner N, Grange DK, Mortenson M, et al. Journal article The clinical significance of small copy number variants in neurodevelopmental disorders (2014) Asadollahi R, Oneda B, Joset P, Azzarello-Burri S, Bartholdi D, Steindl K, Vincent M, et al. Journal article Risk of Ovarian Cancer and the NF-?B Pathway: Genetic Association with IL1A and TNFSF10 (2014) Charbonneau B, Block MS, Bamlet WR, Vierkant RA, Kalli KR, Fogarty Z, Rider DN, et al. Journal article The proinflammatory effect of C-reactive protein on human endothelial cells depends on the Fc?RIIa genotype (2014) Raaz-Schrauder D, Ekici AB, Klinghammer L, Stumpf C, Achenbach S, Herrmann M, Reis A, Garlichs C Journal article Breast cancer risk - From genetics to molecular understanding of pathogenesis (2013) Fasching P, Ekici AB, Wachter DL, Hein A, Bayer CM, Häberle L, Löhberg C, et al. Journal article α-Synuclein oligomers impair neuronal microtubule-kinesin interplay. (2013) Winner B, Prots I, Brey S Journal article Polymorphisms in inflammation pathway genes and endometrial cancer risk (2013) Delahanty RJ, Xiang YB, Spurdle A, Beeghly-Fadiel A, Long J, Thompson D, Tomlinson I, et al. Journal article GWAS meta-analysis and replication identifies three new susceptibility loci for ovarian cancer (2013) Pharoah PDP, Tsai YY, Ramus SJ, Phelan CM, Goode EL, Lawrenson K, Buckley M, et al. Journal article De novo mutations in the genome organizer CTCF cause intellectual disability (2013) Gregor A, Oti M, Kouwenhoven EN, Hoyer J, Sticht H, Ekici AB, Kjaergaard S, et al. Journal article