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Genome-wide Association of Copy-Number Variation Reveals an Association between Short Stature and the Presence of Low-Frequency Genomic Deletions. American journal of human genetics, 2011/12/09, Volume 89, Issue 6, p.751-9, (2011)
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A rare penetrant mutation in CFH confers high risk of age-related macular degeneration. Nature genetics, 2011/10/23, Volume 43, Issue 12, p.1232-6, (2011)
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International network of cancer genome projects. Nature, 2010/04/15, Volume 464, Issue 7291, p.993-8, (2010)
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Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project. Nature, 2007/06/14, Volume 447, Issue 7146, p.799-816, (2007)
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