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Multiallelic copy number variation in the complement component 4A (C4A) gene is associated with late-stage age-related macular degeneration (AMD).
Grassmann F, Cantsilieris S, Schulz-Kuhnt AS, White SJ, Richardson AJ, Hewitt AW, Vote BJ, Schmied D, Guymer RH, Weber BH, Baird PN. Grassmann F, et al. Among authors: cantsilieris s. J Neuroinflammation. 2016 Apr 18;13(1):81. doi: 10.1186/s12974-016-0548-0. J Neuroinflammation. 2016. PMID: 27090374 Free PMC article.
Recurrent structural variation, clustered sites of selection, and disease risk for the complement factor H (CFH) gene family.
Cantsilieris S, Nelson BJ, Huddleston J, Baker C, Harshman L, Penewit K, Munson KM, Sorensen M, Welch AE, Dang V, Grassmann F, Richardson AJ, Guymer RH, Graves-Lindsay TA, Wilson RK, Weber BHF, Baird PN, Allikmets R, Eichler EE. Cantsilieris S, et al. Proc Natl Acad Sci U S A. 2018 May 8;115(19):E4433-E4442. doi: 10.1073/pnas.1717600115. Epub 2018 Apr 23. Proc Natl Acad Sci U S A. 2018. PMID: 29686068 Free PMC article.
Can genetic associations change with age? CFH and age-related macular degeneration.
Adams MK, Simpson JA, Richardson AJ, Guymer RH, Williamson E, Cantsilieris S, English DR, Aung KZ, Makeyeva GA, Giles GG, Hopper J, Robman LD, Baird PN. Adams MK, et al. Among authors: cantsilieris s. Hum Mol Genet. 2012 Dec 1;21(23):5229-36. doi: 10.1093/hmg/dds364. Epub 2012 Aug 29. Hum Mol Genet. 2012. PMID: 22936692
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