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Germline Variants of CYBA and TRPM4 Predispose to Familial Colorectal Cancer.
Zhu L, Miao B, Dymerska D, Kuswik M, Bueno-Martínez E, Sanoguera-Miralles L, Velasco EA, Paramasivam N, Schlesner M, Kumar A, Yuan Y, Lubinski J, Bandapalli OR, Hemminki K, Försti A. Zhu L, et al. Among authors: schlesner m. Cancers (Basel). 2022 Jan 28;14(3):670. doi: 10.3390/cancers14030670. Cancers (Basel). 2022. PMID: 35158942 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: 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
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.
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.
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: schlesner m. 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: schlesner m. 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 novel homozygous ARL13B variant in patients with Joubert syndrome impairs its guanine nucleotide-exchange factor activity.
Rafiullah R, Long AB, Ivanova AA, Ali H, Berkel S, Mustafa G, Paramasivam N, Schlesner M, Wiemann S, Wade RC, Bolthauser E, Blum M, Kahn RA, Caspary T, Rappold GA. Rafiullah R, et al. Among authors: schlesner m. Eur J Hum Genet. 2017 Dec;25(12):1324-1334. doi: 10.1038/s41431-017-0031-0. Epub 2017 Nov 15. Eur J Hum Genet. 2017. PMID: 29255182 Free PMC article.
198 results