Publikationen 2023
- (2023) Adult alcohol drinking and emotional tone are mediated by neutral sphingomyelinase during development in males. Cereb Cortex. 2023;33(3): 844-864
- (2023) Genetic variants in the genes of the sex steroid hormone metabolism and depressive symptoms during and after pregnancy. Arch Gynecol Obstet. 2023;307(6): 1763-1770
- (2023) Familial acute aortic dissection associated with a novel ACTA2 germline variant. Virchows Arch. 2023;482(2): 437-443
- (2023) Microdeletions at 19p13.11p12 in five individuals with neurodevelopmental delay. Eur J Med Genet. 2023;66(1):
- (2023) CRISPR/Cas9-mediated generation of hESC lines with homozygote and heterozygote p.R331W mutation in CTBP1 to model HADDTS syndrome. Stem Cell Res. 2023;67():
- (2023) Tumor microenvironment-dependent epigenetic imprinting in the vasculature predicts colon cancer outcome. Cancer Commun (Lond). 2023;43(11): 1280-1285
- (2023) FBXO11 haploinsufficiency also stems from de novo missense variants and impairs neuronal differentiation and migration in an iPSC-based neuronal model Eur J Hum Genet. 2023;31 Suppl 1(): 28-29
- (2023) Reset of Inflammatory Priming of Joint Tissue and Reduction of the Severity of Arthritis Flares by Bromodomain Inhibition. Arthritis Rheumatol. 2023;75(4): 517-532
- (2023) IL-3 receptor signalling suppresses chronic intestinal inflammation by controlling mechanobiology and tissue egress of regulatory T cells. Gut. 2023;72(11): 2081-2094
- (2023) Differential Effects of Very-Low-Volume Exercise Modalities on Telomere Length, Inflammation, and Cardiometabolic Health in Obese Metabolic Syndrome Patients: A Subanalysis from Two Randomized Controlled Trials. Antioxidants (Basel). 2023;12(10):
- (2023) WHENWHOLE EXOME SEQUENCING IS NOT GOOD ENOUGH: BACK TO THE ROOTS OR FORWARD TO THE FUTURE Nephrol Dial Transplant. 2023;38 Suppl 1(): I224-I225
- (2023) Cardiovascular changes in the NZB/W F1 mouse model of lupus nephritis. Front Cardiovasc Med. 2023;10():
- (2023) IL-3 receptor signalling suppresses chronic intestinal inflammation by controlling mechanobiology and tissue egress of regulatory T cells J Crohns Colitis. 2023;17 Suppl 1(): I178-I181
- (2023) Differential Effects of Ontamalimab Versus Vedolizumab on Immune Cell Trafficking in Intestinal Inflammation and Inflammatory Bowel Disease. J Crohns Colitis. 2023;17(11): 1817-1832
- (2023) Impact of the Voltage-Gated Calcium Channel Antagonist Nimodipine on the Development of Oligodendrocyte Precursor Cells. Int J Mol Sci. 2023;24(4):
- (2023) Rare frameshift mutation in SERPINA3 contributes to generalized pustular psoriasis Exp Dermatol. 2023;32(4): E55-E55
- (2023) Optimization of assay for transposase-accessible chromatin using sequencing of neutrophils Eur J Hum Genet. 2023;31 Suppl 1(): 658-658
- (2023) Impaired ATF3 signaling involves SNAP25 in SOD1 mutant ALS patients. Sci Rep. 2023;13(1):
- (2023) ALS is imprinted in the chromatin accessibility of blood cells. Cell Mol Life Sci. 2023;80(5):
- (2023) Lifetime ovulatory years and risk of epithelial ovarian cancer: a multinational pooled analysis. J Natl Cancer Inst. 2023;115(5): 539-551
- (2023) Genetic studies of paired metabolomes reveal enzymatic and transport processes at the interface of plasma and urine. Nat Genet. 2023;55(6): 995-1008
- (2023) The impact of coding germline variants on contralateral breast cancer risk and survival. Am J Hum Genet. 2023;110(3): 475-486
- (2023) Aggregation tests identify new gene associations with breast cancer in populations with diverse ancestry Genome Med. 2023;15(1):
- (2023) Genome-wide association analyses define pathogenic signaling pathways and prioritize drug targets for IgA nephropathy. Nat Genet. 2023;55(7): 1091-1105
- (2023) Analysis of genetically determined gene expression suggests role of inflammatory processes in exfoliation syndrome. BMC Genomics. 2023;24(1):
- (2023) Large-scale multitrait genome-wide association analyses identify hundreds of glaucoma risk loci. Nat Genet. 2023;55(7): 1116-1125
- (2023) Aberrant phase separation and nucleolar dysfunction in rare genetic diseases. Nature. 2023;614(7948): 564-571
- (2023) Different MAPT haplotypes influence expression of total MAPT in postmortem brain tissue. Acta Neuropathol Commun. 2023;11(1):
- (2023) Expanding the phenotype of 12q21 deletions: A role of BTG1 in speech development? Eur J Med Genet. 2023;66(4):
- (2023) CERT1 mutations perturb human development by disrupting sphingolipid homeostasis. J Clin Invest. 2023;133(10):
- (2023) GWAS meta-analysis of psoriasis identifies new susceptibility alleles impacting disease mechanisms and therapeutic targets. medRxiv. 2023;():
- (2023) Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals. Genet Med. 2023;25(11):
- (2023) Rare variants in PPFIA3 cause delayed development, intellectual disability, autism, and epilepsy. medRxiv. 2023;():
- (2023) VEXAS-Syndrom, eine neu beschriebene autoinflammatorische Systemerkrankung mit dermatologischen Manifestationen. J Dtsch Dermatol Ges. 2023;21(12): 1456-1464
- (2023) VEXAS syndrome mimicking lupus-like disease. Rheumatology (Oxford). 2023;62(9): e271-e272
- (2023) Ex Vivo Chromosomal Radiosensitivity Testing in Patients with Pathological Germline Variants in Breast Cancer High-Susceptibility Genes BReast CAncer 1 and BReast CAncer 2. Curr Issues Mol Biol. 2023;45(8): 6618-6633
- (2023) Determinants Affecting the Clinical Implementation of a Molecularly Informed Molecular Tumor Board Recommendation: Experience from a Tertiary Cancer Center. Cancers (Basel). 2023;15(24):
- (2023) LHX2 haploinsufficiency causes a variable neurodevelopmental disorder. Genet Med. 2023;25(7):
- (2023) Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice. Sci Adv. 2023;9(10):
- (2023) Copeptin, Natriuretic Peptides, and Cardiovascular Outcomes in Patients With CKD: The German Chronic Kidney Disease (GCKD) Study. Kidney Med. 2023;5(11):
- (2023) Differential Prognostic Utility of Adiposity Measures in Chronic Kidney Disease. J Ren Nutr. 2023;33(4): 546-554
- (2023) Prospective Cohort Study of Soluble Urokinase Plasminogen Activation Receptor and Cardiovascular Events in Patients With CKD. Kidney Int Rep. 2023;8(11): 2265-2275
- (2023) Association of osteopontin with kidney function and kidney failure in chronic kidney disease patients: the GCKD study. Nephrol Dial Transplant. 2023;38(6): 1430-1438