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Page 1
Clinical implementation of RNA sequencing for Mendelian disease diagnostics.
Yépez VA, Gusic M, Kopajtich R, Mertes C, Smith NH, Alston CL, Ban R, Beblo S, Berutti R, Blessing H, Ciara E, Distelmaier F, Freisinger P, Häberle J, Hayflick SJ, Hempel M, Itkis YS, Kishita Y, Klopstock T, Krylova TD, Lamperti C, Lenz D, Makowski C, Mosegaard S, Müller MF, Muñoz-Pujol G, Nadel A, Ohtake A, Okazaki Y, Procopio E, Schwarzmayr T, Smet J, Staufner C, Stenton SL, Strom TM, Terrile C, Tort F, Van Coster R, Vanlander A, Wagner M, Xu M, Fang F, Ghezzi D, Mayr JA, Piekutowska-Abramczuk D, Ribes A, Rötig A, Taylor RW, Wortmann SB, Murayama K, Meitinger T, Gagneur J, Prokisch H. Yépez VA, et al. Among authors: muller mf. Genome Med. 2022 Apr 5;14(1):38. doi: 10.1186/s13073-022-01019-9. Genome Med. 2022. PMID: 35379322 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: muller mf. Nat Protoc. 2021 Feb;16(2):1276-1296. doi: 10.1038/s41596-020-00462-5. Epub 2021 Jan 18. Nat Protoc. 2021. PMID: 33462443
Transcriptome-directed analysis for Mendelian disease diagnosis overcomes limitations of conventional genomic testing.
Murdock DR, Dai H, Burrage LC, Rosenfeld JA, Ketkar S, Müller MF, Yépez VA, Gagneur J, Liu P, Chen S, Jain M, Zapata G, Bacino CA, Chao HT, Moretti P, Craigen WJ, Hanchard NA; Undiagnosed Diseases Network; Lee B. Murdock DR, et al. Among authors: muller mf. J Clin Invest. 2021 Jan 4;131(1):e141500. doi: 10.1172/JCI141500. J Clin Invest. 2021. PMID: 33001864 Free PMC article. Clinical Trial.
Genome reduction in Paenibacillus polymyxa DSM 365 for chassis development.
Ravagnan G, Lesemann J, Müller MF, Poehlein A, Daniel R, Noack S, Kabisch J, Schmid J. Ravagnan G, et al. Among authors: muller mf. Front Bioeng Biotechnol. 2024 Mar 28;12:1378873. doi: 10.3389/fbioe.2024.1378873. eCollection 2024. Front Bioeng Biotechnol. 2024. PMID: 38605990 Free PMC article.
Stationary stable cross-correlation pattern and task specific deviations in unresponsive wakefulness syndrome as well as clinically healthy subjects.
Apablaza-Yevenes DE, Corsi-Cabrera M, Martinez-Guerrero A, Northoff G, Romaniello C, Farinelli M, Bertoletti E, Müller MF, Muñoz-Torres Z. Apablaza-Yevenes DE, et al. Among authors: muller mf. PLoS One. 2024 Mar 15;19(3):e0300075. doi: 10.1371/journal.pone.0300075. eCollection 2024. PLoS One. 2024. PMID: 38489260 Free PMC article.
144 results