Publications
Selected Publications
Effects of different ratios of omega-6:omega-3 fatty acids in the diet of sows on the proteome of milk-derived extracellular vesicles. Ferreira RF, Blees T, Shakeri F, Buness A, Sylvester M, Savoini G, Agazzi A, Mrljak V, Sauerwein H.J Proteomics. 2022 May 26:104632. doi: 10.1016/j.jprot.2022.104632.
Reconstruction of the origin of the first major SARS-CoV-2 outbreak in Germany. Korencak M, Sivalingam S, Sahu A, Dressen D, Schmidt A, Brand F, Krawitz P, Hart L, Maria Eis-Hübinger A, Buness A, Streeck H.Comput Struct Biotechnol J. 2022;20:2292-2296. doi: 10.1016/j.csbj.2022.05.011. Epub 2022 May 10.
GenRisk: A tool for comprehensive genetic risk modeling. Bioinformatics. 2022 Mar 10:btac152. doi: 10.1093/bioinformatics/btac152.
GestaltMatcher facilitates rare disease matching using facial phenotype descriptors. Nat Genet. 2022 Mar;54(3):349-357. doi: 10.1038/s41588-021-01010-x. Epub 2022 Feb 10.
Overexpression of Parkin in clear cell renal cell carcinoma decreases tumor aggressiveness by regulating CKS2 levels.Int J Oncol. 2022 Feb;60(2):20. doi: 10.3892/ijo.2022.5310. Epub 2022 Jan 21.
Iron Deficiency Caused by Intestinal Iron Loss-Novel Candidate Genes for Severe Anemia. Genes (Basel). 2021 Nov 24;12(12):1869. doi: 10.3390/genes12121869.
Variant profiling of colorectal adenomas from three patients of two families with MSH3-related adenomatous polyposis. PLoS One. 2021 Nov 29;16(11):e0259185. doi: 10.1371/journal.pone.0259185. eCollection 2021.
Genome-Wide Survey for Microdeletions or -Duplications in 155 Patients with Lower Urinary Tract Obstructions (LUTO). Genes (Basel). 2021 Sep 20;12(9):1449. doi: 10.3390/genes12091449.
Machine learning to guide clinical decision-making in abdominal surgery-a systematic literature review.Langenbecks Arch Surg. 2021 Oct 29. doi: 10.1007/s00423-021-02348-w.
Comparative proteome profiling in exosomes derived from porcine colostrum versus mature milk reveals distinct functional proteomes. J Proteomics. 2021 Jul 31:104338. doi: 10.1016/j.jprot.2021.104338.
TBK1 and TNFRSF13B mutations and an autoinflammatory disease in a child with lethal COVID-19. NP J Genom Med. 2021 Jul 1;6(1):55. doi: 10.1038/s41525-021-00220-w.
Extending the allelic spectrum at noncoding risk loci of orofacial clefting. Hum Mutat. 2021 May 18. doi: 10.1002/humu.24219.
Differential proteome between ejaculate and epididymal sperm represents a key factor for sperm freezability in wild small ruminants. Cryobiology. 2021 Apr;99:64-77. doi: 10.1016/j.cryobiol.2021.01.012.
Prognostic Gene Expression, Stemness and Immune Microenvironment in Pediatric Tumors. Cancers (Basel). 2021 Feb 18;13(4):854. doi: 10.3390/cancers13040854.
Macrophage frequency in the bone marrow correlates with morphologic subtype of myeloproliferative neoplasm. Ann Hematol. 2021 Jan;100(1):97-104. doi: 10.1007/s00277-020-04304-y.
High-Dimensional Analysis of Immune Cell Composition Predicts Periprosthetic Joint Infections and Dissects Its Pathophysiology. Biomedicines. 2020 Sep 17;8(9):358. doi: 10.3390/biomedicines8090358.
Protamine-2 Deficiency Initiates a Reactive Oxygen Species (ROS)-Mediated Destruction Cascade during Epididymal Sperm Maturation in Mice. Cells. 2020 Jul 27;9(8):1789. doi: 10.3390/cells9081789.
Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome. Am J Hum Genet. 2020 Jul 2;107(1):34-45. doi: 10.1016/j.ajhg.2020.05.006. Epub 2020 Jun 3.
A high-salt diet compromises antibacterial neutrophil responses through hormonal perturbation. Sci Transl Med. 2020 Mar 25;12(536):eaay3850. doi: 10.1126/scitranslmed.aay3850.
Altered Notch Signaling in Dowling-Degos Disease: Additional Mutations in POGLUT1 and Further Insights into Disease Pathogenesis. J Invest Dermatol. 2019 Apr;139(4):960-964. doi: 10.1016/j.jid.2018.10.030. Epub 2018 Nov 9.