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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: gusic m. 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.
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: gusic m. Nat Protoc. 2021 Feb;16(2):1276-1296. doi: 10.1038/s41596-020-00462-5. Epub 2021 Jan 18. Nat Protoc. 2021. PMID: 33462443
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: gusic m. Nat Commun. 2021 Jan 22;12(1):529. doi: 10.1038/s41467-020-20573-7. Nat Commun. 2021. PMID: 33483494 Free PMC article.
Genetic basis of mitochondrial diseases.
Gusic M, Prokisch H. Gusic M, et al. FEBS Lett. 2021 Apr;595(8):1132-1158. doi: 10.1002/1873-3468.14068. Epub 2021 Mar 21. FEBS Lett. 2021. PMID: 33655490 Free article. Review.
84 results