About me
I am a biologist working in the field of Genetic Epidemiology and Computational Genomics. I focus on complex genomic regions and their impact on human health. Special focus of my research is the LPA gene and the impact of its genetic variants on lipoprotein(a) concentrations and cardiovascular disease risk in large-scale datasets.
Publications
2024 (3)
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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
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Amstler S, Streiter G, Pfurtscheller C, Forer L, Di Maio S, Weissensteiner H, Paulweber B, Schönherr S, Kronenberg F, Coassin S:
Nanopore sequencing with unique molecular identifiers enables accurate mutation analysis and haplotyping in the complex lipoprotein(a) KIV-2 VNTR.
Genome Med.
16:117, 2024. PMID:
39380090
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 (3)
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Di Maio S, Lamina C, Coassin S, Forer L, Würzner R, Schönherr S, Kronenberg F:
Lipoprotein(a) and SARS-CoV-2 infections: Susceptibility to infections, ischemic heart disease and thromboembolic events.
J. Intern. Med.
291:101-107, 2022. PMID:
34096654
Journal Article
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Grüneis R, Lamina C, Di Maio S, Schönherr S, Zoescher P, Forer L, Streiter G, Peters A, Gieger C, Köttgen A, Kronenberg F, Coassin S:
The effect of LPA Thr3888Pro on lipoprotein(a) and coronary artery disease is modified by the LPA KIV-2 variant 4925G>A.
Atherosclerosis
349:151-159, 2022. PMID:
35534298
Journal Article
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Grüneis R, Weissensteiner H, Lamina C, Schönherr S, Forer L, Di Maio S, Streiter G, Peters A, Gieger C, Kronenberg F, Coassin S:
The kringle IV type 2 domain variant 4925G>A causes the elusive association signal of the LPA pentanucleotide repeat.
J. Lipid Res.
63:100306, 2022. PMID:
36309064
Journal Article
2021 (1)
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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
2020 (1)
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Di Maio S, Grüneis R, Streiter G, Lamina C, Maglione M, Schoenherr S, Öfner D, Thorand B, Peters A, Eckardt KU, Köttgen A, Kronenberg F, Coassin S:
Investigation of a nonsense mutation located in the complex KIV-2 copy number variation region of apolipoprotein(a) in 10,910 individuals.
Genome Med.
12:74, 2020. PMID:
32825847
Journal Article