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Nature Genetics|August 24, 2010
A large and complex structural polymorphism at 16p12.1 underlies microdeletion disease riskFrancesca Antonacci, Jeffrey M Kidd, Tomas Marques-Bonet, et al.Nature Genetics|September 21, 2010
A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general populationAntonis C Antoniou, Xianshu Wang, Zachary S Fredericksen, et al.Nature Genetics|September 21, 2010
A genome-wide association study identifies susceptibility loci for ovarian cancer at 2q31 and 8q24Ellen L Goode, Georgia Chenevix-Trench, Honglin Song, et al.Nature Genetics|September 7, 2010
High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiencySarah E Calvo, Elena J Tucker, Alison G Compton, et al.Nature Genetics|November 25, 2010
Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility lociAndre Franke, Dermot P B McGovern, Jeffrey C Barrett, et al.Nature Genetics|October 5, 2010
Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypesSabine Endele, Georg Rosenberger, Kirsten Geider, et al.Nature Genetics|October 5, 2010
Resequencing of 200 human exomes identifies an excess of low-frequency non-synonymous coding variantsYingrui Li, Nicolas Vinckenbosch, Geng Tian, et al.Nature Genetics|August 31, 2010
Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndromePeter M Krawitz, Michal R Schweiger, Christian Rödelsperger, et al.Pageof 744