About me
I studied Molecular Medicine and I combine wet lab and data science to understand the genetics and biological mechanisms of lipid-related phenotypes. My current research focuses on lipoprotein(a) concentrations and HDL-mediated cholesterol efflux capacity.
Specifically, I am involved in the following research topics and projects at the institute:
Courses
Publications
2024 (2)
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Schönherr S*, Schachtl-Riess JF, Di Maio S*, Filosi M, Mark M, Lamina C, Fuchsberger C, Kronenberg F, Forer L:
Performing highly parallelized and reproducible GWAS analysis on biobank-scale data.
NAR Genom Bioinform
6:lqae015, 2024. PMID:
38327871
Journal Article
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Di Maio S, Zöscher P, Weissensteiner H, Forer L, Schachtl-Riess JF, Amstler S, Streiter G, Pfurtscheller C, Paulweber B, Kronenberg F, Coassin S, Schönherr S:
Resolving intra-repeat variation in medically relevant VNTRs from short-read sequencing data using the cardiovascular risk gene LPA as a model.
Genome Biol.
25:167, 2024. PMID:
38926899
Journal Article
2023 (2)
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Schachtl-Riess JF, Schönherr S, Lamina C, Forer L, Coassin S, Streiter G, Kheirkhah A, Li Y, Meiselbach H, Di Maio S, Eckardt KU, Köttgen A, Kronenberg F, GCKD investigators:
KLKB1 and CLSTN2 are associated with HDL-mediated cholesterol efflux capacity in a genome-wide association study.
Atherosclerosis
368:1-11, 2023. PMID:
36812656
Journal Article
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Kheirkhah A, Schachtl-Riess JF, Lamina C, Di Maio S, Koller A, Schönherr S, Coassin S, Forer L, Sekula P, Gieger C, Peters A, Köttgen A, Eckardt KU, Kronenberg F:
Meta-GWAS on PCSK9 concentrations reveals associations of novel loci outside the PCSK9 locus in White populations.
Atherosclerosis
386:117384, 2023. PMID:
37989062
Journal Article
2022 (1)
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Kheirkhah A, Lamina C, Kollerits B, Schachtl-Riess JF, Schultheiss UT, Forer L, Sekula P, Kotsis F, Eckardt KU, Kronenberg F, GCKD Investigators:
PCSK9 and cardiovascular disease in individuals with moderately decreased kidney function.
Clin. J. Am. Soc. Nephrol.
17:809-818, 2022. PMID:
35387881
Journal Article
2021 (2)
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Schachtl-Riess JF, Kheirkhah A, Grüneis R, Di Maio S, Schoenherr S, Streiter G, Losso JL, Paulweber B, Eckardt KU, Köttgen A, Lamina C, Kronenberg F, Coassin S, GCKD Investigators:
Frequent LPA KIV-2 variants lower lipoprotein(a) concentrations and protect against coronary artery disease.
J. Am. Coll. Cardiol.
78:437-449, 2021. PMID:
34325833
Journal Article
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Schachtl-Riess JF, Coassin S, Lamina C, Demetz E, Streiter G, Hilbe R, Kronenberg F:
Lysis reagents, cell numbers, and calculation method influence high-throughput measurement of HDL-mediated cholesterol efflux capacity.
J. Lipid Res.
62:100125, 2021. PMID:
34571016
Journal Article