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Phenotypic heterogeneity of genomic disorders and rare copy-number variants.
Girirajan S, Rosenfeld JA, Coe BP, Parikh S, Friedman N, Goldstein A, Filipink RA, McConnell JS, Angle B, Meschino WS, Nezarati MM, Asamoah A, Jackson KE, Gowans GC, Martin JA, Carmany EP, Stockton DW, Schnur RE, Penney LS, Martin DM, Raskin S, Leppig K, Thiese H, Smith R, Aberg E, Niyazov DM, Escobar LF, El-Khechen D, Johnson KD, Lebel RR, Siefkas K, Ball S, Shur N, McGuire M, Brasington CK, Spence JE, Martin LS, Clericuzio C, Ballif BC, Shaffer LG, Eichler EE. Girirajan S, et al. Among authors: siefkas k. N Engl J Med. 2012 Oct 4;367(14):1321-31. doi: 10.1056/NEJMoa1200395. Epub 2012 Sep 12. N Engl J Med. 2012. PMID: 22970919 Free PMC article.
Investigation of NRXN1 deletions: clinical and molecular characterization.
Dabell MP, Rosenfeld JA, Bader P, Escobar LF, El-Khechen D, Vallee SE, Dinulos MB, Curry C, Fisher J, Tervo R, Hannibal MC, Siefkas K, Wyatt PR, Hughes L, Smith R, Ellingwood S, Lacassie Y, Stroud T, Farrell SA, Sanchez-Lara PA, Randolph LM, Niyazov D, Stevens CA, Schoonveld C, Skidmore D, MacKay S, Miles JH, Moodley M, Huillet A, Neill NJ, Ellison JW, Ballif BC, Shaffer LG. Dabell MP, et al. Among authors: siefkas k. Am J Med Genet A. 2013 Apr;161A(4):717-31. doi: 10.1002/ajmg.a.35780. Epub 2013 Mar 12. Am J Med Genet A. 2013. PMID: 23495017
Five patients with a chromosome 1q21.1 triplication show macrocephaly, increased weight and facial similarities.
Van Dijck A, van der Werf IM, Reyniers E, Scheers S, Azage M, Siefkas K, Van der Aa N, Lacroix A, Rosenfeld J, Argiropoulos B, Davis K, Innes AM, Mefford HC, Mortier G, Meuwissen M, Kooy RF. Van Dijck A, et al. Among authors: siefkas k. Eur J Med Genet. 2015 Oct;58(10):503-8. doi: 10.1016/j.ejmg.2015.08.004. Epub 2015 Aug 29. Eur J Med Genet. 2015. PMID: 26327614