Publikationen 2017
- (2017) Genetic risk variants for membranous nephropathy: extension of and association with other chronic kidney disease aetiologies. Nephrol Dial Transplant. 2017;32(2): 325-332
- (2017) Gene panel sequencing in familial breast/ovarian cancer patients identifies multiple novel mutations also in genes others than BRCA1/2. Int J Cancer. 2017;140(1): 95-102
- (2017) Choline transporter-like1 (CHER1) is crucial for plasmodesmata maturation in Arabidopsis thaliana. Plant J. 2017;89(2): 394-406
- (2017) Paradoxical antidepressant effects of alcohol are related to acid sphingomyelinase and its control of sphingolipid homeostasis. Acta Neuropathol (Berl). 2017;133(3): 463-483
- (2017) FOXP2 variants in 14 individuals with developmental speech and language disorders broaden the mutational and clinical spectrum. J Med Genet. 2017;54(1): 64-72
- (2017) Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition. Eur J Hum Genet. 2017;25(2): 183-191
- (2017) IFN-?/IFN-? responses to respiratory viruses in paediatric asthma. Eur Respir J. 2017;49(2):
- (2017) Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia. Nat Genet. 2017;49(2): 223-237
- (2017) FAM13A is associated with non-small cell lung cancer (NSCLC) progression and controls tumor cell proliferation and survival. Oncoimmunology. 2017;6(1): e1256526
- (2017) Blunted transcriptional response to skeletal muscle ischemia in rats with chronic kidney disease: potential role for impaired ischemia-induced angiogenesis. Physiol Genomics. 2017;49(4): 230-237
- (2017) PEDF Is Associated with the Termination of Chondrocyte Phenotype and Catabolism of Cartilage Tissue. Biomed Res Int. 2017;2017(): 7183516
- (2017) Fra-2 regulates B cell development by enhancing IRF4 and Foxo1 transcription. J Exp Med. 2017;214(7): 2059-2071
- (2017) Pseudoexfoliation syndrome-associated genetic variants affect transcription factor binding and alternative splicing of LOXL1. Nat Commun. 2017;8(): 15466
- (2017) Central nervous system anomalies in two females with Borjeson-Forssman-Lehmann syndrome. Epilepsy Behav. 2017;69(): 104-109
- (2017) Genetic analysis of VCP and WASH complex genes in a German cohort of sporadic ALS-FTD patients. Neurobiol Aging. 2017;56(): 213.e1-213.e5
- (2017) Cost-effectiveness of risk-reducing surgeries in preventing hereditary breast and ovarian cancer. Breast. 2017;32(): 186-191
- (2017) Predicting Triple-Negative Breast Cancer Subtype Using Multiple Single Nucleotide Polymorphisms for Breast Cancer Risk and Several Variable Selection Methods. Geburtsh Frauenheilk. 2017;77(6): 667-678
- (2017) Genetic risk factors for ovarian cancer and their role for endometriosis risk. Gynecol Oncol. 2017;145(1): 142-147
- (2017) Childhood cancer predisposition syndromes-A concise review and recommendations by the Cancer Predisposition Working Group of the Society for Pediatric Oncology and Hematology. Am J Med Genet A. 2017;173(4): 1017-1037
- (2017) Hypomorphic Pathogenic Variants in TAF13 Are Associated with Autosomal-Recessive Intellectual Disability and Microcephaly. Am J Hum Genet. 2017;100(3): 555-561
- (2017) Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. Am J Hum Genet. 2017;101(4): 503-515
- (2017) DDX3X mutations in two girls with a phenotype overlapping Toriello-Carey syndrome. Am J Med Genet A. 2017;173(5): 1369-1373
- (2017) Haploinsufficiency of NR4A2 is associated with a neurodevelopmental phenotype with prominent language impairment. Am J Med Genet A. 2017;173(8): 2231-2234
- (2017) Genome-wide association and targeted analysis of copy number variants with psoriatic arthritis in German patients. BMC Med Genet. 2017;18(1): 92
- (2017) Transcriptome sequencing reveals maelstrom as a novel target gene of the terminal system in the red flour beetle Tribolium castaneum. Development. 2017;144(7): 1339-1349
- (2017) Activation of Epithelial Signal Transducer and Activator of Transcription 1 by Interleukin 28 Controls Mucosal Healing in Mice With Colitis and Is Increased in Mucosa of Patients With Inflammatory Bowel Disease. Gastroenterology. 2017;153(1): 123-138.e8
- (2017) Genetic Breast Cancer Susceptibility Variants and Prognosis in the Prospectively Randomized SUCCESS A Study. Geburtsh Frauenheilk. 2017;77(6): 651-659
- (2017) STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability. J Med Genet. 2017;54(7): 479-488
- (2017) Association Between Telomere Length and Risk of Cancer and Non-Neoplastic Diseases: A Mendelian Randomization Study. JAMA Oncol. 2017;3(5): 636-651
- (2017) [New Therapeutic Approaches in Inflammatory Diseases of the Eye - Targeting Lymphangiogenesis and Cellular Immunity: Research Unit FOR 2240 Presents Itself]. Klin Monatsbl Augenheilkd. 2017;234(5): 679-685
- (2017) Large scale meta-analysis characterizes genetic architecture for common psoriasis associated variants. Nat Commun. 2017;8(): 15382
- (2017) AMPA-receptor specific biogenesis complexes control synaptic transmission and intellectual ability. Nat Commun. 2017;8(): 15910
- (2017) Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer. Nat Genet. 2017;49(5): 680-691
- (2017) Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci. Nat Genet. 2017;49(7): 993-1004
- (2017) A new semisynthetic cardenolide analog 3?-[2-(1-amantadine)- 1-on-ethylamine]-digitoxigenin (AMANTADIG) affects G2/M cell cycle arrest and miRNA expression profiles and enhances proapoptotic survivin-2B expression in renal cell carcinoma cell lines. Oncotarget. 2017;8(7): 11676-11691
- (2017) Hyperandrogenemia and high prolactin in congenital utero-vaginal aplasia patients. Reproduction. 2017;153(5): 555-563
- (2017) Genetic screening confirms heterozygous mutations in ACAN as a major cause of idiopathic short stature. Sci Rep. 2017;7(1): 12225
- (2017) Cardiac injury of the newborn mammalian heart accelerates cardiomyocyte terminal differentiation. Sci Rep. 2017;7(1): 8362
- (2017) DNA methylation mediates genotype and smoking interaction in the development of anti-citrullinated peptide antibody-positive rheumatoid arthritis. Arthritis Res Ther. 2017;19(1): 71
- (2017) Associations between genetic risk variants for kidney diseases and kidney disease etiology. Sci Rep. 2017;7(1): 13944
- (2017) Exome-wide association study reveals novel psoriasis susceptibility locus at TNFSF15 and rare protective alleles in genes contributing to type I IFN signalling. Hum Mol Genet. 2017;26(21): 4301-4313
- (2017) Association analysis identifies 65 new breast cancer risk loci. Nature. 2017;551(7678): 92-94
- (2017) Exome Pool-Seq in neurodevelopmental disorders. Eur J Hum Genet. 2017;25(12): 1364-1376
- (2017) Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders. JAMA Psychiatry. 2017;74(3): 293-299
- (2017) High resolution chromosomal microarray analysis in paediatric obsessive-compulsive disorder. BMC Med Genomics. 2017;10(1): 68
- (2017) A Homozygous Mutation in GPT2 Associated with Nonsyndromic Intellectual Disability in a Consanguineous Family from Costa Rica. JIMD Rep. 2017;36(): 59-66
- (2017) Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer. Nat Genet. 2017;49(12): 1767-1778
- (2017) Posttranscriptional Regulation of LOXL1 Expression Via Alternative Splicing and Nonsense-Mediated mRNA Decay as an Adaptive Stress Response. Invest Ophthalmol Vis Sci. 2017;58(13): 5930-5940
- (2017) Corrigendum: Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia. Nat Genet. 2017;49(6): 969
- (2017) Angiopoietin-1 is required for Schlemm's canal development in mice and humans. J Clin Invest. 2017;127(12): 4421-4436
- (2017) Systems genetics identifies a role for Cacna2d1 regulation in elevated intraocular pressure and glaucoma susceptibility. Nat Commun. 2017;8(1): 1755
- (2017) IMPACT OF SINGLE NUCLEOTIDE POLYMORPHISMS RS1870377 A > T AND RS2305948 C > T ON ENDOTHELIAL CELL ACTIVATION UNDER NON-UNIFORM SHEAR STRESS Atherosclerosis. 2017;263(): E32-E32
- (2017) Ephedrine and 3,4 diaminopyridine responsive myasthenic syndrome in plectin-related epidermolysis bullosa simplex with muscular dystrophy Eur J Neurol. 2017;24 1(): 205-205
- (2017) Clinical validation of genetic variants associated with in vitro chemotherapy-related lymphoblastoid cell toxicity Oncotarget. 2017;8(44): 78133-78143
- (2017) KIF3A and IL-4 are disease-specific biomarkers for psoriatic arthritis susceptibility. Oncotarget. 2017;8(56): 95401-95411
- (2017) ARHGEF9 disease: Phenotype clarification and genotype-phenotype correlation. Neurol Genet. 2017;3(3):
- (2017) Body mass index and breast cancer survival: a Mendelian randomization analysis. Int J Epidemiol. 2017;46(6): 1814-1822