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Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls
The UK10K project identifies rare variants in health and disease
Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing
Diagnostic yield of molecular autopsy in patients with sudden arrhythmic death syndrome using targeted exome sequencing.
Detecting ancient admixture and estimating demographic parameters in multiple human populations
Phosphoinositide 3-kinase δ gene mutation predisposes to respiratory infection and airway damage
Dissection of the genetics of Parkinson's disease identifies an additional association 5' of SNCA and multiple associated haplotypes at 17q21.
Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy
