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Page 1
Whole-Exome Sequencing Identifies a Novel Germline Variant in PTK7 Gene in Familial Colorectal Cancer.
Miao B, Skopelitou D, Srivastava A, Giangiobbe S, Dymerska D, Paramasivam N, Kumar A, Kuświk M, Kluźniak W, Paszkowska-Szczur K, Schlesner M, Lubinski J, Hemminki K, Försti A, Bandapalli OR. Miao B, et al. Among authors: paramasivam n. Int J Mol Sci. 2022 Jan 24;23(3):1295. doi: 10.3390/ijms23031295. Int J Mol Sci. 2022. PMID: 35163215 Free PMC article.
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: paramasivam n. 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: paramasivam n. Nat Commun. 2015 Dec 9;6:10001. doi: 10.1038/ncomms10001. Nat Commun. 2015. PMID: 26647970 Free PMC article.
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: paramasivam n. 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.
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: paramasivam n. 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.
Genetic subclone architecture of tumor clone-initiating cells in colorectal cancer.
Giessler KM, Kleinheinz K, Huebschmann D, Balasubramanian GP, Dubash TD, Dieter SM, Siegl C, Herbst F, Weber S, Hoffmann CM, Fronza R, Buchhalter I, Paramasivam N, Eils R, Schmidt M, von Kalle C, Schneider M, Ulrich A, Scholl C, Fröhling S, Weichert W, Brors B, Schlesner M, Ball CR, Glimm H. Giessler KM, et al. Among authors: paramasivam n. J Exp Med. 2017 Jul 3;214(7):2073-2088. doi: 10.1084/jem.20162017. Epub 2017 Jun 1. J Exp Med. 2017. PMID: 28572216 Free PMC article.
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: paramasivam n. 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
122 results