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Page 1
Diagnosis of CoPAN by whole exome sequencing: Waking up a sleeping tiger's eye.
Evers C, Seitz A, Assmann B, Opladen T, Karch S, Hinderhofer K, Granzow M, Paramasivam N, Eils R, Diessl N, Bartram CR, Moog U. Evers C, et al. Among authors: bartram cr. Am J Med Genet A. 2017 Jul;173(7):1878-1886. doi: 10.1002/ajmg.a.38252. Epub 2017 May 10. Am J Med Genet A. 2017. PMID: 28489334
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: bartram cr. 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
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: bartram cr. 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
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: bartram cr. 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
Clinical and molecular characterization of the BRCA2 p.Asn3124Ile variant reveals substantial evidence for pathogenic significance.
Surowy HM, Sutter C, Mittnacht M, Klaes R, Schaefer D, Evers C, Burgemeister AL, Goehringer C, Dikow N, Heil J, Golatta M, Schott S, Schneeweiss A, Bugert P, Sohn C, Bartram CR, Burwinkel B. Surowy HM, et al. Among authors: bartram cr. Breast Cancer Res Treat. 2014 Jun;145(2):451-60. doi: 10.1007/s10549-014-2943-5. Epub 2014 Apr 12. Breast Cancer Res Treat. 2014. PMID: 24728577
Comparative genomic hybridization in childhood acute lymphoblastic leukemia: correlation with interphase cytogenetics and loss of heterozygosity analysis.
Scholz I, Popp S, Granzow M, Schoell B, Holtgreve-Grez H, Takeuchi S, Schrappe M, Harbott J, Teigler-Schlegel A, Zimmermann M, Fischer C, Koeffler HP, Bartram CR, Jauch A. Scholz I, et al. Among authors: bartram cr. Cancer Genet Cytogenet. 2001 Jan 15;124(2):89-97. doi: 10.1016/s0165-4608(00)00330-7. Cancer Genet Cytogenet. 2001. PMID: 11172898
390 results