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Genetic diagnosis of Mendelian disorders via RNA sequencing.
Kremer LS, Bader DM, Mertes C, Kopajtich R, Pichler G, Iuso A, Haack TB, Graf E, Schwarzmayr T, Terrile C, Koňaříková E, Repp B, Kastenmüller G, Adamski J, Lichtner P, Leonhardt C, Funalot B, Donati A, Tiranti V, Lombes A, Jardel C, Gläser D, Taylor RW, Ghezzi D, Mayr JA, Rötig A, Freisinger P, Distelmaier F, Strom TM, Meitinger T, Gagneur J, Prokisch H. Kremer LS, et al. Among authors: gagneur j. Nat Commun. 2017 Jun 12;8:15824. doi: 10.1038/ncomms15824. Nat Commun. 2017. PMID: 28604674 Free PMC article.
Detection of aberrant gene expression events in RNA sequencing data.
Yépez VA, Mertes C, Müller MF, Klaproth-Andrade D, Wachutka L, Frésard L, Gusic M, Scheller IF, Goldberg PF, Prokisch H, Gagneur J. Yépez VA, et al. Among authors: gagneur j. Nat Protoc. 2021 Feb;16(2):1276-1296. doi: 10.1038/s41596-020-00462-5. Epub 2021 Jan 18. Nat Protoc. 2021. PMID: 33462443
Detection of aberrant splicing events in RNA-seq data using FRASER.
Mertes C, Scheller IF, Yépez VA, Çelik MH, Liang Y, Kremer LS, Gusic M, Prokisch H, Gagneur J. Mertes C, et al. Among authors: gagneur j. Nat Commun. 2021 Jan 22;12(1):529. doi: 10.1038/s41467-020-20573-7. Nat Commun. 2021. PMID: 33483494 Free PMC article.
Clinical implementation of RNA sequencing for Mendelian disease diagnostics.
Yépez VA, Gusic M, Kopajtich R, Mertes C, Smith NH, Alston CL, Ban R, Beblo S, Berutti R, Blessing H, Ciara E, Distelmaier F, Freisinger P, Häberle J, Hayflick SJ, Hempel M, Itkis YS, Kishita Y, Klopstock T, Krylova TD, Lamperti C, Lenz D, Makowski C, Mosegaard S, Müller MF, Muñoz-Pujol G, Nadel A, Ohtake A, Okazaki Y, Procopio E, Schwarzmayr T, Smet J, Staufner C, Stenton SL, Strom TM, Terrile C, Tort F, Van Coster R, Vanlander A, Wagner M, Xu M, Fang F, Ghezzi D, Mayr JA, Piekutowska-Abramczuk D, Ribes A, Rötig A, Taylor RW, Wortmann SB, Murayama K, Meitinger T, Gagneur J, Prokisch H. Yépez VA, et al. Among authors: gagneur j. Genome Med. 2022 Apr 5;14(1):38. doi: 10.1186/s13073-022-01019-9. Genome Med. 2022. PMID: 35379322 Free PMC article.
Modeling fragment counts improves single-cell ATAC-seq analysis.
Martens LD, Fischer DS, Yépez VA, Theis FJ, Gagneur J. Martens LD, et al. Among authors: gagneur j. Nat Methods. 2024 Jan;21(1):28-31. doi: 10.1038/s41592-023-02112-6. Epub 2023 Dec 4. Nat Methods. 2024. PMID: 38049697 Free PMC article.
TT-seq maps the human transient transcriptome.
Schwalb B, Michel M, Zacher B, Frühauf K, Demel C, Tresch A, Gagneur J, Cramer P. Schwalb B, et al. Among authors: gagneur j. Science. 2016 Jun 3;352(6290):1225-8. doi: 10.1126/science.aad9841. Science. 2016. PMID: 27257258
112 results