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Page 1
Double heterozygosity for mutations in BRCA1 and BRCA2 in German breast cancer patients: implications on test strategies and clinical management.
Heidemann S, Fischer C, Engel C, Fischer B, Harder L, Schlegelberger B, Niederacher D, Goecke TO, Doelken SC, Dikow N, Jonat W, Morlot S, Schmutzler RC, Arnold NK. Heidemann S, et al. Among authors: doelken sc. Breast Cancer Res Treat. 2012 Aug;134(3):1229-39. doi: 10.1007/s10549-012-2050-4. Epub 2012 Apr 26. Breast Cancer Res Treat. 2012. PMID: 22535016
Ontological phenotype standards for neurogenetics.
Köhler S, Doelken SC, Rath A, Aymé S, Robinson PN. Köhler S, et al. Among authors: doelken sc. Hum Mutat. 2012 Sep;33(9):1333-9. doi: 10.1002/humu.22112. Epub 2012 Jul 2. Hum Mutat. 2012. PMID: 22573485
Phenotypic overlap in the contribution of individual genes to CNV pathogenicity revealed by cross-species computational analysis of single-gene mutations in humans, mice and zebrafish.
Doelken SC, Köhler S, Mungall CJ, Gkoutos GV, Ruef BJ, Smith C, Smedley D, Bauer S, Klopocki E, Schofield PN, Westerfield M, Robinson PN, Lewis SE. Doelken SC, et al. Dis Model Mech. 2013 Mar;6(2):358-72. doi: 10.1242/dmm.010322. Epub 2012 Oct 25. Dis Model Mech. 2013. PMID: 23104991 Free PMC article.
Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome.
Zemojtel T, Köhler S, Mackenroth L, Jäger M, Hecht J, Krawitz P, Graul-Neumann L, Doelken S, Ehmke N, Spielmann M, Oien NC, Schweiger MR, Krüger U, Frommer G, Fischer B, Kornak U, Flöttmann R, Ardeshirdavani A, Moreau Y, Lewis SE, Haendel M, Smedley D, Horn D, Mundlos S, Robinson PN. Zemojtel T, et al. Sci Transl Med. 2014 Sep 3;6(252):252ra123. doi: 10.1126/scitranslmed.3009262. Sci Transl Med. 2014. PMID: 25186178 Free PMC article.
Clinical interpretation of CNVs with cross-species phenotype data.
Köhler S, Schoeneberg U, Czeschik JC, Doelken SC, Hehir-Kwa JY, Ibn-Salem J, Mungall CJ, Smedley D, Haendel MA, Robinson PN. Köhler S, et al. Among authors: doelken sc. J Med Genet. 2014 Nov;51(11):766-772. doi: 10.1136/jmedgenet-2014-102633. Epub 2014 Oct 3. J Med Genet. 2014. PMID: 25280750 Free PMC article.
MouseFinder: Candidate disease genes from mouse phenotype data.
Chen CK, Mungall CJ, Gkoutos GV, Doelken SC, Köhler S, Ruef BJ, Smith C, Westerfield M, Robinson PN, Lewis SE, Schofield PN, Smedley D. Chen CK, et al. Among authors: doelken sc. Hum Mutat. 2012 May;33(5):858-66. doi: 10.1002/humu.22051. Epub 2012 Mar 16. Hum Mutat. 2012. PMID: 22331800 Free PMC article.
Getting ready for the Human Phenome Project: the 2012 forum of the Human Variome Project.
Oetting WS, Robinson PN, Greenblatt MS, Cotton RG, Beck T, Carey JC, Doelken SC, Girdea M, Groza T, Hamilton CM, Hamosh A, Kerner B, MacArthur JA, Maglott DR, Mons B, Rehm HL, Schofield PN, Searle BA, Smedley D, Smith CL, Bernstein IT, Zankl A, Zhao EY. Oetting WS, et al. Among authors: doelken sc. Hum Mutat. 2013 Apr;34(4):661-6. doi: 10.1002/humu.22293. Hum Mutat. 2013. PMID: 23401191 Free PMC article.
21 results