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Diagnostic Odyssey in an Adult Patient with Ophthalmologic Abnormalities and Hearing Loss: Contribution of RNA-Seq to the Diagnosis of a PEX1 Deficiency.
Muñoz-Pujol G, Alforja-Castiella S, Casaroli-Marano R, Morales-Romero B, García-Villoria J, Yépez VA, Gagneur J, Gusic M, Prokisch H, Tort F, Ribes A. Muñoz-Pujol G, et al. Among authors: gagneur j. Int J Mol Sci. 2022 Oct 15;23(20):12367. doi: 10.3390/ijms232012367. Int J Mol Sci. 2022. PMID: 36293220 Free PMC article.
Early IFN-α signatures and persistent dysfunction are distinguishing features of NK cells in severe COVID-19.
Krämer B, Knoll R, Bonaguro L, ToVinh M, Raabe J, Astaburuaga-García R, Schulte-Schrepping J, Kaiser KM, Rieke GJ, Bischoff J, Monin MB, Hoffmeister C, Schlabe S, De Domenico E, Reusch N, Händler K, Reynolds G, Blüthgen N, Hack G, Finnemann C, Nischalke HD, Strassburg CP, Stephenson E, Su Y, Gardner L, Yuan D, Chen D, Goldman J, Rosenstiel P, Schmidt SV, Latz E, Hrusovsky K, Ball AJ, Johnson JM, Koenig PA, Schmidt FI, Haniffa M, Heath JR, Kümmerer BM, Keitel V, Jensen B, Stubbemann P, Kurth F, Sander LE, Sawitzki B; Deutsche COVID-19 OMICS Initiative (DeCOI); Aschenbrenner AC, Schultze JL, Nattermann J. Krämer B, et al. Immunity. 2021 Nov 9;54(11):2650-2669.e14. doi: 10.1016/j.immuni.2021.09.002. Epub 2021 Sep 4. Immunity. 2021. PMID: 34592166 Free PMC article.
Genotyping 1000 yeast strains by next-generation sequencing.
Wilkening S, Tekkedil MM, Lin G, Fritsch ES, Wei W, Gagneur J, Lazinski DW, Camilli A, Steinmetz LM. Wilkening S, et al. Among authors: gagneur j. BMC Genomics. 2013 Feb 9;14:90. doi: 10.1186/1471-2164-14-90. BMC Genomics. 2013. PMID: 23394869 Free PMC article.
Mitochondrial protein sorting as a therapeutic target for ATP synthase disorders.
Aiyar RS, Bohnert M, Duvezin-Caubet S, Voisset C, Gagneur J, Fritsch ES, Couplan E, von der Malsburg K, Funaya C, Soubigou F, Courtin F, Suresh S, Kucharczyk R, Evrard J, Antony C, St Onge RP, Blondel M, di Rago JP, van der Laan M, Steinmetz LM. Aiyar RS, et al. Among authors: gagneur j. Nat Commun. 2014 Dec 18;5:5585. doi: 10.1038/ncomms6585. Nat Commun. 2014. PMID: 25519239 Free PMC article.
The genomic and transcriptomic landscape of a HeLa cell line.
Landry JJ, Pyl PT, Rausch T, Zichner T, Tekkedil MM, Stütz AM, Jauch A, Aiyar RS, Pau G, Delhomme N, Gagneur J, Korbel JO, Huber W, Steinmetz LM. Landry JJ, et al. Among authors: gagneur j. G3 (Bethesda). 2013 Aug 7;3(8):1213-24. doi: 10.1534/g3.113.005777. G3 (Bethesda). 2013. PMID: 23550136 Free PMC article.
114 results