Introduction The rapid global rise in metabolic disease suggests that nongenetic environmental
factors contribute to disease risk. Early life represents a window of phenotypic plasticity …

There are thousands of rare human disorders that are caused by single deleterious, protein-coding
genetic variants 1 . However, patients with the same genetic defect can have different …

Ascent to high altitude is associated with a fall in the partial pressure of inspired oxygen (hypobaric
hypoxia). For oxidative tissues such as skeletal muscle, resultant cellular hypoxia …

We estimated the genome-wide contribution of recessive coding variation in 6040 families
from the Deciphering Developmental Disorders study. The proportion of cases attributable to …

Environmental factors during early life are critical for the later metabolic health of the
individual and of future progeny. In our obesogenic environment, it is of great socioeconomic …

The control of foetal growth is poorly understood and yet it is critically important that at birth
the body has attained appropriate size and proportions. Growth and survival of the …

Loss-of-function of DDX3X is a leading cause of neurodevelopmental disorders (NDD) in
females. DDX3X is also a somatically mutated cancer driver gene proposed to have tumour …

The prenatal environment can alter an individual’s developmental trajectory with long-lasting
effects on health. Animal models demonstrate that the impact of the early life environment …

Environmental factors, particularly during early life, are important for the later metabolic health
of the individual. In our obesogenic environment, it is of major socio-economic importance …

Physical exercise has positive effects on cognition, but very little is known about the inheritance
of these effects to sedentary offspring and the mechanisms involved. Here, we use a …