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Research

The Deep Genome Project.

The Deep Genome Project—to deliver the functional biological annotation of all human orthologous genomic elements in mice

Research

Early life determinants of health: Invest early to break the cycle of long-term disadvantage in neurodevelopmental disorders

This chapter discusses the importance of investment in early life determinants of health to break the cycle of long-term disadvantage. This chapter addresses these issues while focussing on neurodevelopmental disorders and their related mental health concerns as the targets at the centre of a biopsychosocial transformation of the health system.

Research

Personalised analytics for rare disease diagnostics

Here we focus on the problem of prioritising variants with respect to the observed disease phenotype

Research

Assessment of on-time vaccination coverage in population subgroups: A record linkage cohort study

On-time coverage of the 2-4-6 month schedule is only 50-60% across specific population subgroups representing a significant avoidable public health risk

Research

Vitamin D supplementation of initially vitamin D-deficient mice diminishes lung inflammation with limited effects on pulmonary epithelial integrity

In disease settings, vitamin D may be important for maintaining optimal lung epithelial integrity and suppressing inflammation, but less is known of its effects prior to disease onset.

Research

Functional abilities in children and adults with the CDKL5 disorder

Although abilities were markedly impaired for the majority with the CDKL5 disorder, some females and a few males had better functional abilities

Research

Clinical and biological progress over 50 years in Rett syndrome

Review of the clinical and biological progress over 50 years in Rett Syndrome

Research

Informing rubella vaccination strategies in East Java, Indonesia through transmission modelling

A single dose of rubella vaccine will take longer to reduce the burden of rubella and will be less robust to lower vaccine coverage

Research

High success rate of lung function testing in healthy, unsedated 1- and 2-year-old South African children

Lung function measures in a health, unsedated 1- and 2-year-old children in a South African birth cohort study

Research

Meningococcal serogroup B-specific responses after vaccination with bivalent rLP2086

Assessment of the persistence of bactericidal antibodies up to 4 years after a three-dose schedule of bivalent rLP2086