Institute of Human Genetics

Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy (2016) Mignot C, Von Stuelpnagel C, Nava C, Ville D, Sanlaville D, Lesca G, Rastetter A, et al. Journal article Five endometrial cancer risk loci identified through genome-wide association analysis (2016) Cheng THT, Thompson DJ, O'Mara TA, Painter JN, Glubb DM, Flach S, Lewis A, et al. Journal article Systematic Phenomics Analysis Deconvolutes Genes Mutated in Intellectual Disability into Biologically Coherent Modules (2016) Kochinke K, Zweier C, Nijhof B, Fenckova M, Cizek P, Honti F, Keerthikumar S, et al. Journal article 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