Institute of Human Genetics

Palmoplantar Pustular Psoriasis Is Associated with Missense Variants in CARD14, but Not with Loss-of-Function Mutations in IL36RN in European Patients (2015) Moessner R, Frambach Y, Wilsmann-Theis D, Loehr S, Jacobi A, Weyergraf A, Mueller M, et al. Journal article De novo missense mutations in the NAA10 gene cause severe non-syndromic developmental delay in males and females (2015) Popp B, Stove SI, Endele S, Myklebust LM, Hoyer J, Sticht H, Azzarello-Burri S, et al. Journal article Height and Breast Cancer Risk: Evidence From Prospective Studies and Mendelian Randomization (2015) Zhang B, Shu XO, Delahanty RJ, Zeng C, Michailidou K, Bolla MK, Wang Q, et al. Journal article Common variants at the CHEK2 gene locus and risk of epithelial ovarian cancer (2015) Lawrenson K, Iversen ES, Tyrer J, Weber RP, Concannon P, Hazelett DJ, Li Q, et al. Journal article Genetic variants and cellular stressors associated with exfoliation syndrome modulate promoter activity of a lncRNA within the LOXL1 locus (2015) Hauser MA, Aboobakar IF, Liu Y, Miura S, Whigham BT, Challa P, Wheeler J, et al. Journal article A recessive form of extreme macrocephaly and mild intellectual disability complements the spectrum of PTEN hamartoma tumour syndrome (2015) Schwerd T, Khaled AV, Schürmann M, Chen H, Händel N, Reis A, Gillessen-Kaesbach G, et al. Journal article A common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome (2015) Aung T, Ozaki M, Mizoguchi T, Allingham RR, Li Z, Haripriya A, Nakano S, et al. Journal article De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum (2015) Kuechler A, Willemsen MH, Albrecht B, Bacino CA, Bartholomew DW, Van Bokhoven H, Van Den Boogaard MJH, et al. Journal article Investigation of gene-environment interactions between 47 newly identified breast cancer susceptibility loci and environmental risk factors (2015) Rudolph A, Milne RL, Truong T, Knight JA, Seibold P, Flesch-Janys D, Behrens S, et al. Journal article Fine-mapping of the HNF1B multicancer locus identifies candidate variants that mediate endometrial cancer risk (2015) Painter JN, O'Mara TA, Batra J, Cheng T, Lose FA, Dennis J, Michailidou K, et al. Journal article