Publications
2024 (2)
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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 (1)
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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
2022 (2)
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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 (5)
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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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Fazzini F, Fendt L, Schönherr S, Forer L, Schöpf B, Streiter G, Losso JL, Kloss-Brandstätter A, Kronenberg F, Weissensteiner H:
Analyzing low-level mtDNA heteroplasmy-pitfalls and challenges from bench to benchmarking.
Int. J. Mol. Sci.
22:935, 2021. PMID:
33477827
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
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Sailer S, Coassin S, Lackner K, Fischer C, McNeill E, Streiter G, Kremser C, Maglione M, Green CM, Moralli D, Moschen AR, Keller MA, Golderer G, Werner-Felmayer G, Tegeder I, Channon KM, Davies B, Werner ER, Watschinger K:
When the genome bluffs: a tandem duplication event during generation of a novel Agmo knockout mouse model fools routine genotyping.
Cell Biosci.
11:54, 2021. PMID:
33726865
Journal Article
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Kloss-Brandstätter A, Summerer M, Horst D, Horst B, Streiter G, Raschenberger J, Kronenberg F, Sanguansermsri T, Horst J, Weissensteiner H:
An in-depth analysis of the mitochondrial phylogenetic landscape of Cambodia.
Sci. Rep.
11:10816, 2021. PMID:
34031453
Journal Article
2020 (2)
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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
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Fendt L, Fazzini F, Weissensteiner H, Bruckmoser E, Schönherr S, Schäfer G, Losso JL, Streiter GA, Lamina C, Rasse M, Klocker H, Kofler B, Kloss-Brandstätter A, Huck CW, Kronenberg F, Laimer J:
Profiling of mitochondrial DNA heteroplasmy in a prospective oral squamous cell carcinoma study.
Cancers (Basel)
12:1933, 2020. PMID:
32708892
Journal Article