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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: 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
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
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
Mutations in ROGDI Cause Kohlschütter-Tönz Syndrome.
Schossig A, Wolf NI, Fischer C, Fischer M, Stocker G, Pabinger S, Dander A, Steiner B, Tönz O, Kotzot D, Haberlandt E, Amberger A, Burwinkel B, Wimmer K, Fauth C, Grond-Ginsbach C, Koch MJ, Deichmann A, von Kalle C, Bartram CR, Kohlschütter A, Trajanoski Z, Zschocke J. Schossig A, et al. Among authors: bartram cr. Am J Hum Genet. 2012 Apr 6;90(4):701-7. doi: 10.1016/j.ajhg.2012.02.012. Epub 2012 Mar 15. Am J Hum Genet. 2012. PMID: 22424600 Free PMC article.
A non-enzymatic function of 17beta-hydroxysteroid dehydrogenase type 10 is required for mitochondrial integrity and cell survival.
Rauschenberger K, Schöler K, Sass JO, Sauer S, Djuric Z, Rumig C, Wolf NI, Okun JG, Kölker S, Schwarz H, Fischer C, Grziwa B, Runz H, Nümann A, Shafqat N, Kavanagh KL, Hämmerling G, Wanders RJ, Shield JP, Wendel U, Stern D, Nawroth P, Hoffmann GF, Bartram CR, Arnold B, Bierhaus A, Oppermann U, Steinbeisser H, Zschocke J. Rauschenberger K, et al. Among authors: bartram cr. EMBO Mol Med. 2010 Feb;2(2):51-62. doi: 10.1002/emmm.200900055. EMBO Mol Med. 2010. PMID: 20077426 Free PMC article.
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
390 results