Publication A case of myelopathy, myopathy, peripheral neuropathy and subcortical grey matter degeneration associated with recessive compound heterozygous POLG1 mutations.
Publication Twenty-four-hour ambulatory blood pressure monitoring detects a high prevalence of hypertension late after coarctation repair in patients with hypoplastic arches.
Publication Filaggrin loss-of-function mutations do not predict food allergy over and above the risk of food sensitization among infants.
Publication Surgical management of craniosynostotis: Analysis of morbidity and mortality in 796 consecutive patients
Publication Genome-scale profiling reveals a subset of genes regulated by DNA methylation that program somatic T-cell phenotypes in humans.
