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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.
Epicardioid single-cell genomics uncovers principles of human epicardium biology in heart development and disease.
Meier AB, Zawada D, De Angelis MT, Martens LD, Santamaria G, Zengerle S, Nowak-Imialek M, Kornherr J, Zhang F, Tian Q, Wolf CM, Kupatt C, Sahara M, Lipp P, Theis FJ, Gagneur J, Goedel A, Laugwitz KL, Dorn T, Moretti A. Meier AB, et al. Among authors: gagneur j. Nat Biotechnol. 2023 Dec;41(12):1787-1800. doi: 10.1038/s41587-023-01718-7. Epub 2023 Apr 3. Nat Biotechnol. 2023. PMID: 37012447 Free PMC article.
Cellular energy regulates mRNA degradation in a codon-specific manner.
Tomaz da Silva P, Zhang Y, Theodorakis E, Martens LD, Yépez VA, Pelechano V, Gagneur J. Tomaz da Silva P, et al. Among authors: gagneur j. Mol Syst Biol. 2024 May;20(5):506-520. doi: 10.1038/s44320-024-00026-9. Epub 2024 Mar 15. Mol Syst Biol. 2024. PMID: 38491213 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.
Negative feedback buffers effects of regulatory variants.
Bader DM, Wilkening S, Lin G, Tekkedil MM, Dietrich K, Steinmetz LM, Gagneur J. Bader DM, et al. Among authors: gagneur j. Mol Syst Biol. 2015 Jan 29;11(1):785. doi: 10.15252/msb.20145844. Mol Syst Biol. 2015. PMID: 25634765 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.
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.
112 results