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From next-generation sequencing alignments to accurate comparison and validation of single-nucleotide variants: the pibase software.
Forster M, Forster P, Elsharawy A, Hemmrich G, Kreck B, Wittig M, Thomsen I, Stade B, Barann M, Ellinghaus D, Petersen BS, May S, Melum E, Schilhabel MB, Keller A, Schreiber S, Rosenstiel P, Franke A. Forster M, et al. Among authors: schilhabel mb. Nucleic Acids Res. 2013 Jan 7;41(1):e16. doi: 10.1093/nar/gks836. Epub 2012 Sep 10. Nucleic Acids Res. 2013. PMID: 22965131 Free PMC article.
A tissue-specific landscape of sense/antisense transcription in the mouse intestine.
Klostermeier UC, Barann M, Wittig M, Häsler R, Franke A, Gavrilova O, Kreck B, Sina C, Schilhabel MB, Schreiber S, Rosenstiel P. Klostermeier UC, et al. Among authors: schilhabel mb. BMC Genomics. 2011 Jun 10;12:305. doi: 10.1186/1471-2164-12-305. BMC Genomics. 2011. PMID: 21663663 Free PMC article.
Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2.
Cottenie E, Kochanski A, Jordanova A, Bansagi B, Zimon M, Horga A, Jaunmuktane Z, Saveri P, Rasic VM, Baets J, Bartsakoulia M, Ploski R, Teterycz P, Nikolic M, Quinlivan R, Laura M, Sweeney MG, Taroni F, Lunn MP, Moroni I, Gonzalez M, Hanna MG, Bettencourt C, Chabrol E, Franke A, von Au K, Schilhabel M, Kabzińska D, Hausmanowa-Petrusewicz I, Brandner S, Lim SC, Song H, Choi BO, Horvath R, Chung KW, Zuchner S, Pareyson D, Harms M, Reilly MM, Houlden H. Cottenie E, et al. Am J Hum Genet. 2014 Nov 6;95(5):590-601. doi: 10.1016/j.ajhg.2014.10.002. Epub 2014 Oct 30. Am J Hum Genet. 2014. PMID: 25439726 Free PMC article.
Recurrent mutation of the ID3 gene in Burkitt lymphoma identified by integrated genome, exome and transcriptome sequencing.
Richter J, Schlesner M, Hoffmann S, Kreuz M, Leich E, Burkhardt B, Rosolowski M, Ammerpohl O, Wagener R, Bernhart SH, Lenze D, Szczepanowski M, Paulsen M, Lipinski S, Russell RB, Adam-Klages S, Apic G, Claviez A, Hasenclever D, Hovestadt V, Hornig N, Korbel JO, Kube D, Langenberger D, Lawerenz C, Lisfeld J, Meyer K, Picelli S, Pischimarov J, Radlwimmer B, Rausch T, Rohde M, Schilhabel M, Scholtysik R, Spang R, Trautmann H, Zenz T, Borkhardt A, Drexler HG, Möller P, MacLeod RA, Pott C, Schreiber S, Trümper L, Loeffler M, Stadler PF, Lichter P, Eils R, Küppers R, Hummel M, Klapper W, Rosenstiel P, Rosenwald A, Brors B, Siebert R; ICGC MMML-Seq Project. Richter J, et al. Nat Genet. 2012 Dec;44(12):1316-20. doi: 10.1038/ng.2469. Epub 2012 Nov 11. Nat Genet. 2012. PMID: 23143595
96 results