2025

• Dr.Silvia Di Maio: Resolving intra‑repeat variation in medically relevant VNTRs from short‑read sequencing data using the cardiovascular risk gene LPA as a model. Silvia Di Maio, Peter Zoscher, Hansi Weissensteiner, Lukas Forer, Johanna F. Schachtl‑Riess,Stephan Amstler, Gertraud Streiter, Cathrin Pfurtscheller, Bernhard Paulweber, Florian Kronenberg,Stefan Coassin and Sebastian Schonherr. Genome Biology, 2024 

• Stephan Amstler: Nanopore sequencing with uniquemolecular identifiers enables accurate mutationanalysis and haplotyping in the complexlipoprotein(a) KIV-2 VNTR. Stephan Amstler, Gertraud Streiter, Cathrin Pfurtscheller, Lukas Forer, Silvia Di Maio, Hansi Weissensteiner, Bernhard Paulweber, Sebastian Schönherr, Florian Kronenberg and Stefan Coassin. Genome Biology, 2024  

2024

• David Schörghofer: Late stage melanoma is hallmarked by low NLGN4X expression leading to HIF1A accumulation. David Schörghofer, Laurenz Vock, Madalina A. Mirea, Oliver Eckel, Anna Gschwendtner, Jürgen Neesen, Erika Richtig, Markus Hengstschläger and Mario Mikula. British Journal of Cancer, 2024

2023

• Esther Schamschula: Teenage-Onset Colorectal Cancers in a Digenic Cancer Predisposition Syndrome Provide Clues for the Interaction between Mismatch Repair and Polymerase δ Proofreading Deficiency in Tumorigenesis. Esther Schamschula, Miriam Kinzel, Annekatrin Wernstedt, Klaus Oberhuber, Hendrik Gottschling, Simon Schnaiter, Nicolaus Friedrichs, Sabine Merkelbach-Bruse, Johannes Zschocke, Richard Gallon, Katharina Wimmer. Biomolecules 2022, 12(10):13505

• Simon Schwendinger: Response prediction by mutation- or methylation-specific detection of ctDNA dynamics in pretreated metastatic colorectal cancer. B. Doleschal*, P. Kirchweger*, *, A. Kupferthaler, J. Burghofer, G. Webersinke, E. Jukic, H. Wundsam, M. Biebl, A. Petzer, H. Rumpold (Therapeutics Advances in Medical Oncology 2023 in press

2022

• Dr. Sara Denicoló, und Verena Vogi, MSc, Clonal Hematopoiesis of Indeterminate Potential and Diabetic Kidney Disease: A Nested Case-Control Study (Sara Denicoló, Verena Vogi, et al., Kidney Int Rep (2022) 7, 876–888, PMID: 35497780) 

2021

• Johanna F. Schachtl-Riess, MSc, Frequent LPA KIV-2 Variants LowerLipoprotein(a) Concentrations and Protect Against Coronary Artery Disease (Johanna F. Schachtl-Riess, MSc, et al., Journal of the American college of Cardiologie, 2021 Aug 3; 78(5): 437-449 PMID: 34325833)

2020:

• Adriana Koller, Mitochondrial DNA copy number associated with all-cause mortality and cardiovascular events in patients with peripheral aterial disease (A. Koller, F. Fazzini, C. Lamina, B. Rantner, B. Kollerits, M. Stadler, P. Klein-Weigel, G. Fraedrich & F. Kronenberg, Journal of Internal Medicine, 2020, 287; 569–579, PMID: 32037598)

 2019:

• Gregor Ömer,  Molecular structural diversity of mitochondrial cardiolipins. (Ömer G. et al., Proc Natl Acad Sci USA. 2018 Apr 17; 115(16):4158-4163, PMID:29618609)

2018:

• Jelena Belic,  Genomic alterations in plasma DNA from patients with metastasized prostate cancer receiving abiraterone or enzalutamide, Int. J. Cancer: 143, 1236–1248 (2018) 

2017:

• Sebastian Schönherr, „Next-generation genotype imputation service and methods" Nature Genetics 2016; 48: 1284-1287

2016:

• Laura Pölsler et al. EJHG (2016) 24, 258-262 : High prevalence of BRCA1 stop mutation c.4183C4T in the Tyrolean population: implications for genetic testing 
• Peter Ulz et al. : Nature Communication 7:12008 doi: 10.1038/ncomms12008 (2016): Whole-genome plasma sequencing reveals focal amplifications as a driving force in metastatic prostate cancer
• Julia Vogt et al. EJHG (2016) 1 -7, PMS2 inactivation by a complex rearrangement involving an HERV retroelement and the inverted 100-kb duplicon on 7p22.1

2015:

• Julia Vogt

2014:

• Marie Bernkopf, „Disruption of the methyltransferase-like 23 gene METTL23 causes mild autosomal recessive intellectual disability“(Hum Mol Genet 23(2014):4015-23)
• Anja Laschkolnig, „Lipoprotein (a) concentrations, apolipoprotein (a) phenotypes, and peripheral arterial disease in three independent cohorts“ (Cardiovasc Res 103(2014):28-36)
• Sumitra Mohan: „Changes in Colorectal Carcinoma Genomes under Anti-EGFR Therapy Identified by Whole-Genome Plasma DNA Sequencing“ (PLOS Genet 10(2014):e1004271)