Publications 2014
- (2014) Identification of new genetic susceptibility Loci for breast cancer through consideration of gene-environment interactions. Genet Epidemiol. 2014;38(1): 84-93
- (2014) CYP2B6*6 is associated with increased breast cancer risk. Int J Cancer. 2014;134(2): 426-30
- (2014) A large-scale assessment of two-way SNP interactions in breast cancer susceptibility using 46 450 cases and 42 461 controls from the breast cancer association consortium. Hum Mol Genet. 2014;23(7): 1934-46
- (2014) Genome-wide association study identifies 25 known breast cancer susceptibility loci as risk factors for triple-negative breast cancer. Carcinogenesis. 2014;35(5): 1012-9
- (2014) Risk of Ovarian Cancer and the NF-?B Pathway: Genetic Association with IL1A and TNFSF10. Cancer Res. 2014;74(3): 852-61
- (2014) The proinflammatory effect of C-reactive protein on human endothelial cells depends on the Fc?RIIa genotype. Thromb Res. 2014;133(3): 426-32
- (2014) Null mutation in PGAP1 impairing Gpi-anchor maturation in patients with intellectual disability and encephalopathy. PLoS Genet. 2014;10(5): e1004320
- (2014) Renal fibrosis is the common feature of autosomal dominant tubulointerstitial kidney diseases caused by mutations in mucin 1 or uromodulin. Kidney Int. 2014;86(3): 589-99
- (2014) HER2 and TOP2A amplification in a hospital-based cohort of breast cancer patients: associations with patient and tumor characteristics. Breast Cancer Res Treat. 2014;145(1): 193-203
- (2014) Loss of MTUS1/ATIP expression is associated with adverse outcome in advanced bladder carcinomas: data from a retrospective study. BMC Cancer. 2014;14(): 214
- (2014) Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems. Am J Hum Genet. 2014;94(5): 649-61
- (2014) HIBCH deficiency in a patient with phenotypic characteristics of mitochondrial disorders. Am J Med Genet A. 2014;164(12): 3162-9
- (2014) Polymorphisms in the RANK/RANKL genes and their effect on bone specific prognosis in breast cancer patients. Biomed Res Int. 2014;2014(): 842452
- (2014) FGF receptor genes and breast cancer susceptibility: results from the Breast Cancer Association Consortium. Br J Cancer. 2014;110(4): 1088-100
- (2014) CLP1 founder mutation links tRNA splicing and maturation to cerebellar development and neurodegeneration. Cell. 2014;157(3): 651-63
- (2014) Large-scale evaluation of common variation in regulatory T cell-related genes and ovarian cancer outcome. Cancer Immunol Res. 2014;2(4): 332-40
- (2014) Duchenne muscular dystrophy and malignant hyperthermia: a genetic study of the ryanodine receptor in 47 patients. Eur J Anaesthesiol. 2014;31(6): 341-2
- (2014) Genome-wide UPD screening in patients with intellectual disability. Eur J Hum Genet. 2014;22(10): 1233-5
- (2014) A complex microcephaly syndrome in a Pakistani family associated with a novel missense mutation in RBBP8 and a heterozygous deletion in NRXN1. Gene. 2014;538(1): 30-5
- (2014) Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations. Hum Genet. 2014;133(7): 939-49
- (2014) Altered GPM6A/M6 Dosage Impairs Cognition and Causes Phenotypes Responsive to Cholesterol in Human and Drosophila. Hum Mutat. 2014;35(12): 1495-505
- (2014) Deletions in the 3' part of the NFIX gene including a recurrent Alu-mediated deletion of exon 6 and 7 account for previously unexplained cases of Marshall-Smith syndrome. Hum Mutat. 2014;35(9): 1092-100
- (2014) ABCA transporter gene expression and poor outcome in epithelial ovarian cancer. J Natl Cancer Inst. 2014;106(7):
- (2014) Consortium analysis of gene and gene-folate interactions in purine and pyrimidine metabolism pathways with ovarian carcinoma risk. Mol Nutr Food Res. 2014;58(10): 2023-35
- (2014) 2q36.3 is associated with prognosis for oestrogen receptor-negative breast cancer patients treated with chemotherapy. Nat Commun. 2014;5(): 4051
- (2014) Clinical spectrum of females with HCCS mutation: from no clinical signs to a neonatal lethal form of the microphthalmia with linear skin defects (MLS) syndrome. Orphanet J Rare Dis. 2014;9(): 53
- (2014) Genetic predisposition to in situ and invasive lobular carcinoma of the breast. PLoS Genet. 2014;10(4): e1004285
- (2014) MicroRNA Related Polymorphisms and Breast Cancer Risk. PLoS ONE. 2014;9(11): e109973
- (2014) Evidence that breast cancer risk at the 2q35 locus is mediated through IGFBP5 regulation. Nat Commun. 2014;4(): 4999
- (2014) The clinical significance of small copy number variants in neurodevelopmental disorders. J Med Genet. 2014;51(10): 677-88
- (2014) A Peroxisomal Disorder of Severe Intellectual Disability, Epilepsy, and Cataracts Due to Fatty Acyl-CoA Reductase 1 Deficiency. Am J Hum Genet. 2014;95(5): 602-10
- (2014) Variation in NF-?B signaling pathways and survival in invasive epithelial ovarian cancer. Cancer Epidemiol Biomarkers Prev. 2014;23(7): 1421-7
- (2014) Genetic variation in mitotic regulatory pathway genes is associated with breast tumor grade. Hum Mol Genet. 2014;23(22): 6034-46
- (2014) Common non-synonymous SNPs associated with breast cancer susceptibility: findings from the Breast Cancer Association Consortium. Hum Mol Genet. 2014;23(22): 6096-111
- (2014) Phenotype and genotype in Nicolaides-Baraitser syndrome. Am J Med Genet C Semin Med Genet. 2014;166C(3): 302-14
- (2014) Stable DNA methylation boundaries and expanded trinucleotide repeats: role of DNA insertions. J Mol Biol. 2014;426(14): 2554-66
- (2014) Matrilin-1 is essential for zebrafish development by facilitating collagen II secretion. J Biol Chem. 2014;289(3): 1505-18
- (2014) Genome-wide association study of subtype-specific epithelial ovarian cancer risk alleles using pooled DNA. Hum Genet. 2014;133(5): 481-97
- (2014) Genetic variation at CYP3A is associated with age at menarche and breast cancer risk: a case-control study. Breast Cancer Res. 2014;16(3): R51
- (2014) Refined histopathological predictors of BRCA1 and BRCA2 mutation status: a large-scale analysis of breast cancer characteristics from the BCAC, CIMBA, and ENIGMA consortia. Breast Cancer Res. 2014;16(6): 3419
- (2014) Tumor microenvironment-dependent heterogeneity and cytogenetic abnormality of tumor endothelial cells in human colorectal carcinoma J Clin Oncol. 2014;32 S(15): -
- (2014) Inherited pain: sodium channel Nav1.7 A1632T mutation causes erythromelalgia due to a shift of fast inactivation. J Biol Chem. 2014;289(4): 1971-80
- (2014) CAGn repeat of the androgen receptor is linked to proopiomelanocortin promoter methylation-relevance for craving of male alcohol-dependent patients? Psychopharmacology (Berl). 2014;231(10): 2059-66
- (2014) Expanding the phenotype of IQSEC2 mutations: truncating mutations in severe intellectual disability Eur J Hum Genet. 2014;22(2): 289-292
- (2014) NDST1 Missense Mutations in Autosomal Recessive Intellectual Disability Am J Med Genet A. 2014;164A(11): 2753-2763
- (2014) Females With de novo Aberrations in PHF6: Clinical Overlap of Borjeson-Forssman-Lehmann With Coffin-Siris Syndrome Am J Med Genet C Semin Med Genet. 2014;166(3): 290-301
- (2014) Successful therapy with anakinra in a patient with generalized pustular psoriasis carrying IL36RN mutations Br J Dermatol. 2014;170(1): 202-204
- (2014) Complex Role of TNF Variants in Psoriatic Arthritis and Treatment Response to Anti-TNF Therapy: Evidence and Concepts J Invest Dermatol. 2014;134(10): 2483-2485
- (2014) Matrilin-1 Is Essential for Zebrafish Development by Facilitating Collagen II Secretion Journal of applied biological chemistry.. 2014;289(3): 1505-1518
- (2014) Is the care for women with a hereditary risk for breast and ovarian cancer fundable at all? - Health-economic analysis of genetic testing intensified early cancer detection and prophylactic surgery from the perspective of the health care system and the he Oncology Research and Treatment. 2014;37 1(): 33-33
- (2014) Reduced Syncytin-1 Expression Levels in Placental Syndromes Correlates with Epigenetic Hypermethylation of the ERVW-1 Promoter Region (vol 8, e56145, 2013) PLoS ONE. 2014;9(8): e107215-