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Page 1
Unravelling undiagnosed rare disease cases by HiFi long-read genome sequencing.
Steyaert W, Sagath L, Demidov G, Yépez VA, Esteve-Codina A, Gagneur J, Ellwanger K, Derks R, Weiss M, den Ouden A, van den Heuvel S, Swinkels H, Zomer N, Steehouwer M, O'Gorman L, Astuti G, Neveling K, Schüle R, Xu J, Synofzik M, Beijer D, Hengel H, Schöls L, Claeys KG, Baets J, Van de Vondel L, Ferlini A, Selvatici R, Morsy H, Saeed Abd Elmaksoud M, Straub V, Müller J, Pini V, Perry L, Sarkozy A, Zaharieva I, Muntoni F, Bugiardini E, Polavarapu K, Horvath R, Reid E, Lochmüller H, Spinazzi M, Savarese M; Solve-RD DITF-ITHACA; Solve-RD DITF-Euro-NMD; Solve-RD DITF-RND; Solve-RD DITF-EpiCARE; Matalonga L, Laurie S, Brunner HG, Graessner H, Beltran S, Ossowski S, Vissers LELM, Gilissen C, Hoischen A. Steyaert W, et al. Among authors: gagneur j. medRxiv [Preprint]. 2024 May 4:2024.05.03.24305331. doi: 10.1101/2024.05.03.24305331. medRxiv. 2024. PMID: 38746462 Free PMC article. Preprint.
Characterization of Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) Infection Clusters Based on Integrated Genomic Surveillance, Outbreak Analysis and Contact Tracing in an Urban Setting.
Walker A, Houwaart T, Finzer P, Ehlkes L, Tyshaieva A, Damagnez M, Strelow D, Duplessis A, Nicolai J, Wienemann T, Tamayo T, Kohns Vasconcelos M, Hülse L, Hoffmann K, Lübke N, Hauka S, Andree M, Däumer MP, Thielen A, Kolbe-Busch S, Göbels K, Zotz R, Pfeffer K, Timm J, Dilthey AT; German COVID-19 OMICS Initiative (DeCOI). Walker A, et al. Clin Infect Dis. 2022 Mar 23;74(6):1039-1046. doi: 10.1093/cid/ciab588. Clin Infect Dis. 2022. PMID: 34181711 Free PMC article.
Somatic alterations compromised molecular diagnosis of DOCK8 hyper-IgE syndrome caused by a novel intronic splice site mutation.
Hagl B, Spielberger BD, Thoene S, Bonnal S, Mertes C, Winter C, Nijman IJ, Verduin S, Eberherr AC, Puel A, Schindler D, Ruland J, Meitinger T, Gagneur J, Orange JS, van Gijn ME, Renner ED. Hagl B, et al. Among authors: gagneur j. Sci Rep. 2018 Nov 13;8(1):16719. doi: 10.1038/s41598-018-34953-z. Sci Rep. 2018. PMID: 30425284 Free PMC article.
Splicing control by PHF5A is crucial for melanoma cell survival.
Meißgeier T, Kappelmann-Fenzl M, Staebler S, Ahari AJ, Mertes C, Gagneur J, Linck-Paulus L, Bosserhoff AK. Meißgeier T, et al. Among authors: gagneur j. Cell Prolif. 2024 Aug 30:e13741. doi: 10.1111/cpr.13741. Online ahead of print. Cell Prolif. 2024. PMID: 39212334
Model-based gene set analysis for Bioconductor.
Bauer S, Robinson PN, Gagneur J. Bauer S, et al. Among authors: gagneur j. Bioinformatics. 2011 Jul 1;27(13):1882-3. doi: 10.1093/bioinformatics/btr296. Epub 2011 May 10. Bioinformatics. 2011. PMID: 21561920 Free PMC article.
Transcriptome-wide association study of coronary artery disease identifies novel susceptibility genes.
Li L, Chen Z, von Scheidt M, Li S, Steiner A, Güldener U, Koplev S, Ma A, Hao K, Pan C, Lusis AJ, Pang S, Kessler T, Ermel R, Sukhavasi K, Ruusalepp A, Gagneur J, Erdmann J, Kovacic JC, Björkegren JLM, Schunkert H. Li L, et al. Among authors: gagneur j. Basic Res Cardiol. 2022 Feb 17;117(1):6. doi: 10.1007/s00395-022-00917-8. Basic Res Cardiol. 2022. PMID: 35175464 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
Experimental relocation of the mitochondrial ATP9 gene to the nucleus reveals forces underlying mitochondrial genome evolution.
Bietenhader M, Martos A, Tetaud E, Aiyar RS, Sellem CH, Kucharczyk R, Clauder-Münster S, Giraud MF, Godard F, Salin B, Sagot I, Gagneur J, Déquard-Chablat M, Contamine V, Hermann-Le Denmat S, Sainsard-Chanet A, Steinmetz LM, di Rago JP. Bietenhader M, et al. Among authors: gagneur j. PLoS Genet. 2012;8(8):e1002876. doi: 10.1371/journal.pgen.1002876. Epub 2012 Aug 16. PLoS Genet. 2012. PMID: 22916027 Free PMC article.
125 results