Publikationen 2018
- (2018) The genetic basis for most patients with pustular skin disease remains elusive. Br J Dermatol. 2018;178(3): 740-748
- (2018) EFhd2/Swiprosin-1 is a common genetic determinator for sensation-seeking/low anxiety and alcohol addiction. Mol Psychiatry. 2018;23(5): 1303-1319
- (2018) Prenatal androgen receptor activation determines adult alcohol and water drinking in a sex-specific way. Addict Biol. 2018;23(3): 904-920
- (2018) Evidence for genetic overlap between adult onset Still's disease and hereditary periodic fever syndromes. Rheumatol Int. 2018;38(1): 111-120
- (2018) Novel STRA6 null mutations in the original family described with Matthew-Wood syndrome. Am J Med Genet A. 2018;176(1): 134-138
- (2018) Histopathological proof of the pathogenicity of a rare GFAP mutation in a patient with flaccid paraparesis. Brain Dev. 2018;40(4): 330-333
- (2018) Polyol Pathway Links Glucose Metabolism to the Aggressiveness of Cancer Cells. Cancer Res. 2018;78(7): 1604-1618
- (2018) Analysis of the expression pattern of the schizophrenia-risk and intellectual disability gene TCF4 in the developing and adult brain suggests a role in development and plasticity of cortical and hippocampal neurons. Mol Autism. 2018;9():
- (2018) Publisher Correction: Evidence that breast cancer risk at the 2q35 locus is mediated through IGFBP5 regulation. Nat Commun. 2018;9():
- (2018) Light chain proximal tubulopathy in the spectrumof B-cell dyscrasia induced renal disease Virchows Arch. 2018;473(): S15-S15
- (2018) Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants. Genet Med. 2018;20(10): 1175-1185
- (2018) Identification of nine new susceptibility loci for endometrial cancer. Nat Commun. 2018;9(1):
- (2018) Genome-Wide Association Studies of Metabolites in Patients with CKD Identify Multiple Loci and Illuminate Tubular Transport Mechanisms. J Am Soc Nephrol. 2018;29(5): 1513-1524
- (2018) BRCA mutations and their influence on pathological complete response and prognosis in a clinical cohort of neoadjuvantly treated breast cancer patients. Breast Cancer Res Treat. 2018;171(1): 85-94
- (2018) SWI/SNF protein expression status in fumarate hydratase-deficient renal cell carcinoma: immunohistochemical analysis of 32 tumors from 28 patients. Hum Pathol. 2018;77(): 139-146
- (2018) Effects of Anti-Integrin Treatment With Vedolizumab on Immune Pathways and Cytokines in Inflammatory Bowel Diseases. Front Immunol. 2018;9():
- (2018) Biallelic intragenic deletion in MASP1 in an adult female with 3MC syndrome. Eur J Med Genet. 2018;61(7): 363-368
- (2018) Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature. Genet Med. 2018;20(6): 630-638
- (2018) Single molecule real time sequencing in ADTKD-MUC1 allows complete assembly of the VNTR and exact positioning of causative mutations. Sci Rep. 2018;8(1):
- (2018) Saliva samples as a source of DNA for high throughput genotyping: an acceptable and sufficient means in improvement of risk estimation throughout mammographic diagnostics. Eur J Med Res. 2018;23(1):
- (2018) De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder. Am J Hum Genet. 2018;103(2): 305-316
- (2018) Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila. Am J Hum Genet. 2018;102(1): 44-57
- (2018) α-Synuclein oligomers induce early axonal dysfunction in human iPSC-based models of synucleinopathies. Proc Natl Acad Sci U S A. 2018;115(30): 7813-7818
- (2018) Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome. Am J Hum Genet. 2018;102(3): 468-479
- (2018) Functional analyses of Pericentrin and Syne-2 interaction in ciliogenesis. J Cell Sci. 2018;131(16):
- (2018) Functional missense and splicing variants in the retinoic acid catabolizing enzyme CYP26C1 in idiopathic short stature. Eur J Hum Genet. 2018;26(8): 1113-1120
- (2018) Characterization of germ cell differentiation in the male mouse through single-cell RNA sequencing. Sci Rep. 2018;8(1):
- (2018) Mannan-induced Nos2 in macrophages enhances IL-17-driven psoriatic arthritis by innate lymphocytes. Sci Adv. 2018;4(5):
- (2018) Successful treatment with interleukin-17A antagonists of generalized pustular psoriasis in patients without IL36RN mutations. J Dermatol. 2018;45(7): 850-854
- (2018) Risk, Prediction and Prevention of Hereditary Breast Cancer - Large-Scale Genomic Studies in Times of Big and Smart Data. Geburtsh Frauenheilk. 2018;78(5): 481-492
- (2018) Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling. Eur J Hum Genet. 2018;26(2): 197-209
- (2018) Integrative bioinformatics analysis characterizing the role of EDC3 in mRNA decay and its association to intellectual disability. BMC Med Genomics. 2018;11(1):
- (2018) Genetic overlap between endometriosis and endometrial cancer: evidence from cross-disease genetic correlation and GWAS meta-analyses. Cancer Med. 2018;7(5): 1978-1987
- (2018) The interaction of ENL with PAF1 mitigates polycomb silencing and facilitates murine leukemogenesis. Blood. 2018;131(6): 662-673
- (2018) Variants in genes encoding small GTPases and association with epithelial ovarian cancer susceptibility. PLoS ONE. 2018;13(7):
- (2018) T cells are influenced by a long non-coding RNA in the autoimmune associated PTPN2 locus. J Autoimmun. 2018;90(): 28-38
- (2018) Genetics of serum urate concentrations and gout in a high-risk population, patients with chronic kidney disease. Sci Rep. 2018;8(1):
- (2018) The role of genetic variation of human metabolism for BMI, mental traits and mental disorders. Mol Metab. 2018;12(): 1-11
- (2018) Single-cell RNA sequencing of adult mouse testes. Sci Data. 2018;5():
- (2018) Biallelic Expression of Mucin-1 in Autosomal Dominant Tubulointerstitial Kidney Disease: Implications for Nongenetic Disease Recognition. J Am Soc Nephrol. 2018;29(9): 2298-2309
- (2018) De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation. Nat Genet. 2018;50(10): 1442-1451
- (2018) RNA-seq and pathway analysis of ocular tissues in PEX patients and healthy subjects Invest Ophthalmol Vis Sci. 2018;59(9):
- (2018) Genome-wide analyses identify a role for SLC17A4 and AADAT in thyroid hormone regulation. Nat Commun. 2018;9(1):
- (2018) Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care. Genet Med. 2018;20(9): 965-975
- (2018) CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language. Nat Commun. 2018;9(1):
- (2018) Tyrosinase downregulates Fibromodulin- induced lymphangiogenesis Invest Ophthalmol Vis Sci. 2018;59(9):
- (2018) Addition of triple negativity of breast cancer as an indicator for germline mutations in predisposing genes increases sensitivity of clinical selection criteria. BMC Cancer. 2018;18(1):
- (2018) Nutritional and hormonal regulation of lysyl oxidase-like 1 and elastic proteins involved in pseudoexfoliation syndrome/glaucoma Invest Ophthalmol Vis Sci. 2018;59(9):
- (2018) Pseudoexfoliation associated protective variant, rs7173049, reveals a novel regulatory region downstream of LOXL1 Invest Ophthalmol Vis Sci. 2018;59(9):
- (2018) Novel truncating mutation in CACNA1F in a young male patient diagnosed with optic atrophy. Ophthalmic Genet. 2018;39(6): 741-748
- (2018) Need for high-resolution Genetic Analysis in iPSC: Results and Lessons from the ForIPS Consortium. Sci Rep. 2018;8(1):
- (2018) Chromatin-Remodeling Factor SPOC1 Acts as a Cellular Restriction Factor against Human Cytomegalovirus by Repressing the Major Immediate Early Promoter. J Virol. 2018;92(14):
- (2018) Microphthalmia is not a mandatory finding in X-linked recessive syndromic microphthalmia caused by the recurrent BCOR variant p.Pro85Leu. Am J Med Genet A. 2018;176(12): 2872-2876
- (2018) rs495139 in the TYMS-ENOSF1 Region and Risk of Ovarian Carcinoma of Mucinous Histology. Int J Mol Sci. 2018;19(9):
- (2018) The polynucleotide kinase 3'-phosphatase gene (PNKP) is involved in Charcot-Marie-Tooth disease (CMT2B2) previously related to MED25. Neurogenetics. 2018;19(4): 215-225
- (2018) Serum levels of miR-320 family members are associated with clinical parameters and diagnosis in prostate cancer patients. Oncotarget. 2018;9(12): 10402-10416
- (2018) Dual Function of the Retinoic Acid Catabolizing Enzyme CYP26C1-Underlying Idiopathic Short Stature and Modifying Disease Severity in SHOX Deficiency Horm Res Paediatr. 2018;90(): 425-425
- (2018) Systematic approach demonstrates enrichment of multiple interactions between non-HLA risk variants and HLA-DRB1 risk alleles in rheumatoid arthritis. Ann Rheum Dis. 2018;77(10): 1454-1462
- (2018) Variants in PUS7 Cause Intellectual Disability with Speech Delay, Microcephaly, Short Stature, and Aggressive Behavior. Am J Hum Genet. 2018;103(6): 1045-1052