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 carcinomaJ 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 disabilityEur J Hum Genet. 2014;22(2): 289-292
- (2014)NDST1 Missense Mutations in Autosomal Recessive Intellectual DisabilityAm 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 SyndromeAm 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 mutationsBr 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 ConceptsJ Invest Dermatol. 2014;134(10): 2483-2485
- (2014)Matrilin-1 Is Essential for Zebrafish Development by Facilitating Collagen II SecretionJournal 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 heOncology 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-


