Institute of Human Genetics

Angiopoietin receptor TEK mutations underlie primary congenital glaucoma with variable expressivity (2016) Souma T, Tompson SW, Thomson BR, Siggs OM, Kizhatil K, Yamaguchi S, Feng L, et al. Journal article CYP19A1 fine-mapping and Mendelian randomization: estradiol is causal for endometrial cancer (2016) Thompson DJ, O'Mara TA, Glubb DM, Painter JN, Cheng T, Folkerd E, Doody D, et al. Journal article 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