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203 results

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Page 1
Loss of function of PGAP1 as a cause of severe encephalopathy identified by Whole Exome Sequencing: Lessons of the bioinformatics pipeline.
Granzow M, Paramasivam N, Hinderhofer K, Fischer C, Chotewutmontri S, Kaufmann L, Evers C, Kotzaeridou U, Rohrschneider K, Schlesner M, Sturm M, Pinkert S, Eils R, Bartram CR, Bauer P, Moog U. Granzow M, et al. Among authors: schlesner m. Mol Cell Probes. 2015 Oct;29(5):323-9. doi: 10.1016/j.mcp.2015.05.012. Epub 2015 Jun 4. Mol Cell Probes. 2015. PMID: 26050939
A comprehensive assessment of somatic mutation detection in cancer using whole-genome sequencing.
Alioto TS, Buchhalter I, Derdak S, Hutter B, Eldridge MD, Hovig E, Heisler LE, Beck TA, Simpson JT, Tonon L, Sertier AS, Patch AM, Jäger N, Ginsbach P, Drews R, Paramasivam N, Kabbe R, Chotewutmontri S, Diessl N, Previti C, Schmidt S, Brors B, Feuerbach L, Heinold M, Gröbner S, Korshunov A, Tarpey PS, Butler AP, Hinton J, Jones D, Menzies A, Raine K, Shepherd R, Stebbings L, Teague JW, Ribeca P, Giner FC, Beltran S, Raineri E, Dabad M, Heath SC, Gut M, Denroche RE, Harding NJ, Yamaguchi TN, Fujimoto A, Nakagawa H, Quesada V, Valdés-Mas R, Nakken S, Vodák D, Bower L, Lynch AG, Anderson CL, Waddell N, Pearson JV, Grimmond SM, Peto M, Spellman P, He M, Kandoth C, Lee S, Zhang J, Létourneau L, Ma S, Seth S, Torrents D, Xi L, Wheeler DA, López-Otín C, Campo E, Campbell PJ, Boutros PC, Puente XS, Gerhard DS, Pfister SM, McPherson JD, Hudson TJ, Schlesner M, Lichter P, Eils R, Jones DT, Gut IG. Alioto TS, et al. Among authors: schlesner m. Nat Commun. 2015 Dec 9;6:10001. doi: 10.1038/ncomms10001. Nat Commun. 2015. PMID: 26647970 Free PMC article.
Next-generation personalised medicine for high-risk paediatric cancer patients - The INFORM pilot study.
Worst BC, van Tilburg CM, Balasubramanian GP, Fiesel P, Witt R, Freitag A, Boudalil M, Previti C, Wolf S, Schmidt S, Chotewutmontri S, Bewerunge-Hudler M, Schick M, Schlesner M, Hutter B, Taylor L, Borst T, Sutter C, Bartram CR, Milde T, Pfaff E, Kulozik AE, von Stackelberg A, Meisel R, Borkhardt A, Reinhardt D, Klusmann JH, Fleischhack G, Tippelt S, Dirksen U, Jürgens H, Kramm CM, von Bueren AO, Westermann F, Fischer M, Burkhardt B, Wößmann W, Nathrath M, Bielack SS, Frühwald MC, Fulda S, Klingebiel T, Koscielniak E, Schwab M, Tremmel R, Driever PH, Schulte JH, Brors B, von Deimling A, Lichter P, Eggert A, Capper D, Pfister SM, Jones DT, Witt O. Worst BC, et al. Among authors: schlesner m. Eur J Cancer. 2016 Sep;65:91-101. doi: 10.1016/j.ejca.2016.06.009. Epub 2016 Jul 29. Eur J Cancer. 2016. PMID: 27479119
Pedigree based DNA sequencing pipeline for germline genomes of cancer families.
Försti A, Kumar A, Paramasivam N, Schlesner M, Catalano C, Dymerska D, Lubinski J, Eils R, Hemminki K. Försti A, et al. Among authors: schlesner m. Hered Cancer Clin Pract. 2016 Aug 9;14:16. doi: 10.1186/s13053-016-0058-1. eCollection 2016. Hered Cancer Clin Pract. 2016. PMID: 27508007 Free PMC article.
TALEN/CRISPR-mediated engineering of a promoterless anti-viral RNAi hairpin into an endogenous miRNA locus.
Senís E, Mockenhaupt S, Rupp D, Bauer T, Paramasivam N, Knapp B, Gronych J, Grosse S, Windisch MP, Schmidt F, Theis FJ, Eils R, Lichter P, Schlesner M, Bartenschlager R, Grimm D. Senís E, et al. Among authors: schlesner m. Nucleic Acids Res. 2017 Jan 9;45(1):e3. doi: 10.1093/nar/gkw805. Epub 2016 Sep 9. Nucleic Acids Res. 2017. PMID: 27614072 Free PMC article.
DDX3X mutations in two girls with a phenotype overlapping Toriello-Carey syndrome.
Dikow N, Granzow M, Graul-Neumann LM, Karch S, Hinderhofer K, Paramasivam N, Behl LJ, Kaufmann L, Fischer C, Evers C, Schlesner M, Eils R, Borck G, Zweier C, Bartram CR, Carey JC, Moog U. Dikow N, et al. Among authors: schlesner m. Am J Med Genet A. 2017 May;173(5):1369-1373. doi: 10.1002/ajmg.a.38164. Epub 2017 Mar 29. Am J Med Genet A. 2017. PMID: 28371085
A report of whole-genome sequencing in neurologic Wilson's disease.
Anwarullah A, Paramasivam N, Abbasi R, Khan K, Sultan A, Schlesner M, von Engelhardt J, Ahmad N, Aslam M. Anwarullah A, et al. Among authors: schlesner m. Neurol India. 2017 May-Jun;65(3):629-631. doi: 10.4103/neuroindia.NI_1274_16. Neurol India. 2017. PMID: 28488633 Free article. No abstract available.
203 results