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Germline mutations affecting G?11 in hypoparathyroidism.
Genome-Wide Association Study
Distribution and medical impact of loss-of-function variants in the Finnish founder population.
Analysis of rare, exonic variation amongst subjects with autism spectrum disorders and population controls.
Genome-wide Analysis of Body Proportion Classifies Height-Associated Variants by Mechanism of Action and Implicates Genes Important for Skeletal Development.
Using whole-exome sequencing to identify inherited causes of autism.
An excess of risk-increasing low-frequency variants can be a signal of polygenic inheritance in complex diseases.
A novel test for recessive contributions to complex diseases implicates Bardet-Biedl syndrome gene BBS10 in idiopathic type 2 diabetes and obesity.
Genome Wide Association Study