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• Biological function through network topology: a survey of the human diseasome.

  Janjić V, Pržulj N. Janjić V, et al. Brief Funct Genomics. 2012 Nov;11(6):522-32. doi: 10.1093/bfgp/els037. Epub 2012 Sep 8. Brief Funct Genomics. 2012. PMID: 22962330 Free PMC article.
• Both rare and common polymorphisms contribute functional variation at CHGA, a regulator of catecholamine physiology.

  Wen G, Mahata SK, Cadman P, Mahata M, Ghosh S, Mahapatra NR, Rao F, Stridsberg M, Smith DW, Mahboubi P, Schork NJ, O'Connor DT, Hamilton BA. Wen G, et al. Am J Hum Genet. 2004 Feb;74(2):197-207. doi: 10.1086/381399. Epub 2004 Jan 12. Am J Hum Genet. 2004. PMID: 14740315 Free PMC article.
• Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause laing early-onset distal myopathy (MPD1).

  Meredith C, Herrmann R, Parry C, Liyanage K, Dye DE, Durling HJ, Duff RM, Beckman K, de Visser M, van der Graaff MM, Hedera P, Fink JK, Petty EM, Lamont P, Fabian V, Bridges L, Voit T, Mastaglia FL, Laing NG. Meredith C, et al. Am J Hum Genet. 2004 Oct;75(4):703-8. doi: 10.1086/424760. Epub 2004 Aug 20. Am J Hum Genet. 2004. PMID: 15322983 Free PMC article.
• An isochore transition in the NF1 gene region coincides with a switch in the extent of linkage disequilibrium.

  Eisenbarth I, Vogel G, Krone W, Vogel W, Assum G. Eisenbarth I, et al. Am J Hum Genet. 2000 Oct;67(4):873-80. doi: 10.1086/303085. Epub 2000 Sep 6. Am J Hum Genet. 2000. PMID: 10978227 Free PMC article.
• Elevated risk for MPNST in NF1 microdeletion patients.

  De Raedt T, Brems H, Wolkenstein P, Vidaud D, Pilotti S, Perrone F, Mautner V, Frahm S, Sciot R, Legius E. De Raedt T, et al. Am J Hum Genet. 2003 May;72(5):1288-92. doi: 10.1086/374821. Epub 2003 Mar 26. Am J Hum Genet. 2003. PMID: 12660952 Free PMC article.