Institute of Human Genetics

Loss of Function of GALNT2 Lowers High-Density Lipoproteins in Humans, Nonhuman Primates, and Rodents (2016) Khetarpal SA, Schjoldager KT, Christoffersen C, Raghavan A, Edmondson AC, Reutter HM, Ahmed B, et al. Journal article Mutations in MBOAT7, Encoding Lysophosphatidylinositol Acyltransferase I, Lead to Intellectual Disability Accompanied by Epilepsy and Autistic Features (2016) Johansen A, Rosti RO, Musaev D, Sticca E, Harripaul R, Zaki M, Caglayan AO, et al. Journal article IFN-α/IFN-λ responses to respiratory viruses in paediatric asthma (2016) Bergauer A, Sopel N, Kross B, Vuorinen T, Xepapadaki P, Weiss ST, Blau A, et al. Journal article Assessment of variation in immunosuppressive pathway genes reveals TGFBR2 to be associated with risk of clear cell ovarian cancer (2016) Hampras SS, Sucheston-Campbell LE, Cannioto R, Chang-Claude J, Modugno F, Doerk T, Hillemanns P, et al. Journal article Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia (2016) Meyer E, Carss KJ, Rankin J, Nichols JME, Grozeva D, Joseph AP, Mencacci NE, et al. Journal article PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS (2016) Southey MC, Goldgar DE, Winqvist R, Pylkas K, Couch F, Tischkowitz M, Foulkes WD, et al. Journal article The Slavic NBN Founder Mutation: A Role for Reproductive Fitness? (2016) Seemanova E, Varon R, Vejvalka J, Jarolim P, Seeman P, Chrzanowska KH, Digweed M, et al. Journal article Leukemogenic MLL-ENL Fusions Induce Alternative Chromatin States to Drive a Functionally Dichotomous Group of Target Genes (2016) Garcia-Cuellar MP, Büttner C, Bartenhagen C, Dugas M, Slany R Journal article, Original article From basic mechanisms to clinical applications in heart protection, new players in cardiovascular diseases and cardiac theranostics: meeting report from the third international symposium on "New frontiers in cardiovascular research" (2016) Cabrera-Fuentes HA, Aragones J, Bernhagen J, Boening A, Boisvert WA, Botker HE, Bulluck H, et al. Journal article Eight further individuals with intellectual disability and epilepsy carrying bi-allelic CNTNAP2 aberrations allow delineation of the mutational and phenotypic spectrum (2016) Smogavec M, Cleall A, Hoyer J, Lederer D, Nassogne MC, Palmer EE, Deprez M, et al. Journal article