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Year Number of Results
2007 1
2013 1
2015 1
2016 3
2017 4
2018 4
2021 2
2022 3
2023 5
2024 1

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Page 1
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: mertes c. Genome Med. 2022 Apr 5;14(1):38. doi: 10.1186/s13073-022-01019-9. Genome Med. 2022. PMID: 35379322 Free PMC article.
Aberrant splicing prediction across human tissues.
Wagner N, Çelik MH, Hölzlwimmer FR, Mertes C, Prokisch H, Yépez VA, Gagneur J. Wagner N, et al. Among authors: mertes c. Nat Genet. 2023 May;55(5):861-870. doi: 10.1038/s41588-023-01373-3. Epub 2023 May 4. Nat Genet. 2023. PMID: 37142848
Multisystem inflammatory syndrome in children during the COVID-19 waves: data from the Juvenile Inflammatory Rheumatism cohort.
Kechiche R, Borocco C, Bajolle F, Belot A, Poignant S, Lachaume N, Percheron L, Meinzer U, Mertes C, Despert V, Morin L, Lambert V, Dusser P, Matsa N, Hentgen V, Kone-Paut I, Galeotti C. Kechiche R, et al. Among authors: mertes c. Front Pediatr. 2023 May 24;11:1126985. doi: 10.3389/fped.2023.1126985. eCollection 2023. Front Pediatr. 2023. PMID: 37292378 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: mertes c. Nat Protoc. 2021 Feb;16(2):1276-1296. doi: 10.1038/s41596-020-00462-5. Epub 2021 Jan 18. Nat Protoc. 2021. PMID: 33462443
Evaluation of input data modality choices on functional gene embeddings.
Brechtmann F, Bechtler T, Londhe S, Mertes C, Gagneur J. Brechtmann F, et al. Among authors: mertes c. NAR Genom Bioinform. 2023 Nov 2;5(4):lqad095. doi: 10.1093/nargab/lqad095. eCollection 2023 Dec. NAR Genom Bioinform. 2023. PMID: 37942285 Free PMC article.
Improved detection of aberrant splicing using the Intron Jaccard Index.
Scheller IF, Lutz K, Mertes C, Yépez VA, Gagneur J. Scheller IF, et al. Among authors: mertes c. medRxiv [Preprint]. 2023 Apr 3:2023.03.31.23287997. doi: 10.1101/2023.03.31.23287997. medRxiv. 2023. PMID: 37066374 Free PMC article. Updated. Preprint.
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: mertes c. Nat Commun. 2017 Jun 12;8:15824. doi: 10.1038/ncomms15824. Nat Commun. 2017. PMID: 28604674 Free PMC article.
24 results