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Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders. Neuron, 2013/01/23, Volume 77, Issue 2, p.235-42, (2013)
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Rare, Low-Frequency, and Common Variants in the Protein-Coding Sequence of Biological Candidate Genes from GWASs Contribute to Risk of Rheumatoid Arthritis. American journal of human genetics, 2013/01/10, Volume 92, Issue 1, p.15-27, (2013)
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Sequencing Chromosomal Abnormalities Reveals Neurodevelopmental Loci that Confer Risk across Diagnostic Boundaries. Cell, 2012/04/27, Volume 149, Issue 3, p.525-37, (2012)
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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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Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease. Nature genetics, 2011/10/09, Volume 43, Issue 11, p.1066-73, (2011)
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