Ruth Armstrong

The contribution of X-linked coding variation to severe developmental disorders

The paper analyzes X-linked coding variation in developmental disorders, finding similar rates in males and females and estimating pathogenicity of inherited variants.

Bayesian inference associates rare KDR variants with specific phenotypes in pulmonary arterial hypertension

Whole-genome sequencing of rare disease patients in a national healthcare system

This study uses whole-genome sequencing in a national healthcare system to diagnose rare diseases and discover new aetiological variants, identifying 95 Mendelian associations and 4 novel non-coding disease-causing variants.

Prevalence, phenotype and architecture of developmental disorders caused by de novo mutation

The paper analyzes de novo mutations in developmental disorders using exome sequencing of 4,293 families, identifying 94 genes and estimating a birth prevalence of 0.22-0.47%.