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Impact of clinical exomes in neurodevelopmental and neurometabolic disorders.
Evers C, Staufner C, Granzow M, Paramasivam N, Hinderhofer K, Kaufmann L, Fischer C, Thiel C, Opladen T, Kotzaeridou U, Wiemann S, Schlesner M, Eils R, Kölker S, Bartram CR, Hoffmann GF, Moog U. Evers C, et al. Among authors: eils r. Mol Genet Metab. 2017 Aug;121(4):297-307. doi: 10.1016/j.ymgme.2017.06.014. Epub 2017 Jun 30. Mol Genet Metab. 2017. PMID: 28688840
A database system for comparative genomic hybridization analysis.
Berrar D, Dubitzky W, Solinas-Toldo S, Bulashevska S, Granzow M, Conrad C, Kalla J, Lichter P, Eils R. Berrar D, et al. Among authors: eils r. IEEE Eng Med Biol Mag. 2001 Jul-Aug;20(4):75-83. doi: 10.1109/51.940052. IEEE Eng Med Biol Mag. 2001. PMID: 11494773 No abstract available.
Live-cell assays to identify regulators of ER-to-Golgi trafficking.
Lisauskas T, Matula P, Claas C, Reusing S, Wiemann S, Erfle H, Lehmann L, Fischer P, Eils R, Rohr K, Storrie B, Starkuviene V. Lisauskas T, et al. Among authors: eils r. Traffic. 2012 Mar;13(3):416-32. doi: 10.1111/j.1600-0854.2011.01318.x. Epub 2012 Jan 3. Traffic. 2012. PMID: 22132776 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. Among authors: eils r. Nat Genet. 2012 Dec;44(12):1316-20. doi: 10.1038/ng.2469. Epub 2012 Nov 11. Nat Genet. 2012. PMID: 23143595
Recurrent somatic alterations of FGFR1 and NTRK2 in pilocytic astrocytoma.
Jones DT, Hutter B, Jäger N, Korshunov A, Kool M, Warnatz HJ, Zichner T, Lambert SR, Ryzhova M, Quang DA, Fontebasso AM, Stütz AM, Hutter S, Zuckermann M, Sturm D, Gronych J, Lasitschka B, Schmidt S, Seker-Cin H, Witt H, Sultan M, Ralser M, Northcott PA, Hovestadt V, Bender S, Pfaff E, Stark S, Faury D, Schwartzentruber J, Majewski J, Weber UD, Zapatka M, Raeder B, Schlesner M, Worth CL, Bartholomae CC, von Kalle C, Imbusch CD, Radomski S, Lawerenz C, van Sluis P, Koster J, Volckmann R, Versteeg R, Lehrach H, Monoranu C, Winkler B, Unterberg A, Herold-Mende C, Milde T, Kulozik AE, Ebinger M, Schuhmann MU, Cho YJ, Pomeroy SL, von Deimling A, Witt O, Taylor MD, Wolf S, Karajannis MA, Eberhart CG, Scheurlen W, Hasselblatt M, Ligon KL, Kieran MW, Korbel JO, Yaspo ML, Brors B, Felsberg J, Reifenberger G, Collins VP, Jabado N, Eils R, Lichter P, Pfister SM; International Cancer Genome Consortium PedBrain Tumor Project. Jones DT, et al. Among authors: eils r. Nat Genet. 2013 Aug;45(8):927-32. doi: 10.1038/ng.2682. Epub 2013 Jun 30. Nat Genet. 2013. PMID: 23817572 Free PMC article.
Mechismo: predicting the mechanistic impact of mutations and modifications on molecular interactions.
Betts MJ, Lu Q, Jiang Y, Drusko A, Wichmann O, Utz M, Valtierra-Gutiérrez IA, Schlesner M, Jaeger N, Jones DT, Pfister S, Lichter P, Eils R, Siebert R, Bork P, Apic G, Gavin AC, Russell RB. Betts MJ, et al. Among authors: eils r. Nucleic Acids Res. 2015 Jan;43(2):e10. doi: 10.1093/nar/gku1094. Epub 2014 Nov 11. Nucleic Acids Res. 2015. PMID: 25392414 Free PMC article.
446 results