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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.
Impaired biogenesis of basic proteins impacts multiple hallmarks of the aging brain.
Di Fraia D, Marino A, Lee JH, Kelmer Sacramento E, Baumgart M, Bagnoli S, Tomaz da Silva P, Kumar Sahu A, Siano G, Tiessen M, Terzibasi-Tozzini E, Gagneur J, Frydman J, Cellerino A, Ori A. Di Fraia D, et al. Among authors: gagneur j. bioRxiv [Preprint]. 2024 Jan 9:2023.07.20.549210. doi: 10.1101/2023.07.20.549210. bioRxiv. 2024. PMID: 38260253 Free PMC article. Preprint.
Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy.
Haack TB, Staufner C, Köpke MG, Straub BK, Kölker S, Thiel C, Freisinger P, Baric I, McKiernan PJ, Dikow N, Harting I, Beisse F, Burgard P, Kotzaeridou U, Kühr J, Himbert U, Taylor RW, Distelmaier F, Vockley J, Ghaloul-Gonzalez L, Zschocke J, Kremer LS, Graf E, Schwarzmayr T, Bader DM, Gagneur J, Wieland T, Terrile C, Strom TM, Meitinger T, Hoffmann GF, Prokisch H. Haack TB, et al. Among authors: gagneur j. Am J Hum Genet. 2015 Jul 2;97(1):163-9. doi: 10.1016/j.ajhg.2015.05.009. Epub 2015 Jun 11. Am J Hum Genet. 2015. PMID: 26073778 Free PMC article.
Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy.
Ait-El-Mkadem S, Dayem-Quere M, Gusic M, Chaussenot A, Bannwarth S, François B, Genin EC, Fragaki K, Volker-Touw CLM, Vasnier C, Serre V, van Gassen KLI, Lespinasse F, Richter S, Eisenhofer G, Rouzier C, Mochel F, De Saint-Martin A, Abi Warde MT, de Sain-van der Velde MGM, Jans JJM, Amiel J, Avsec Z, Mertes C, Haack TB, Strom T, Meitinger T, Bonnen PE, Taylor RW, Gagneur J, van Hasselt PM, Rötig A, Delahodde A, Prokisch H, Fuchs SA, Paquis-Flucklinger V. Ait-El-Mkadem S, et al. Among authors: gagneur j. Am J Hum Genet. 2017 Jan 5;100(1):151-159. doi: 10.1016/j.ajhg.2016.11.014. Epub 2016 Dec 15. Am J Hum Genet. 2017. PMID: 27989324 Free PMC article.
Chromatin-remodeling factor SMARCD2 regulates transcriptional networks controlling differentiation of neutrophil granulocytes.
Witzel M, Petersheim D, Fan Y, Bahrami E, Racek T, Rohlfs M, Puchałka J, Mertes C, Gagneur J, Ziegenhain C, Enard W, Stray-Pedersen A, Arkwright PD, Abboud MR, Pazhakh V, Lieschke GJ, Krawitz PM, Dahlhoff M, Schneider MR, Wolf E, Horny HP, Schmidt H, Schäffer AA, Klein C. Witzel M, et al. Among authors: gagneur j. Nat Genet. 2017 May;49(5):742-752. doi: 10.1038/ng.3833. Epub 2017 Apr 3. Nat Genet. 2017. PMID: 28369036 Free PMC article.
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.
Inhibition of oxidative stress in cholinergic projection neurons fully rescues aging-associated olfactory circuit degeneration in Drosophila.
Hussain A, Pooryasin A, Zhang M, Loschek LF, La Fortezza M, Friedrich AB, Blais CM, Üçpunar HK, Yépez VA, Lehmann M, Gompel N, Gagneur J, Sigrist SJ, Grunwald Kadow IC. Hussain A, et al. Among authors: gagneur j. Elife. 2018 Jan 18;7:e32018. doi: 10.7554/eLife.32018. Elife. 2018. PMID: 29345616 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.
123 results