Publication A patient with homozygous nonsense variants in two Leigh syndrome disease genes: Distinguishing a dual diagnosis from a hypomorphic protein-truncating variant.
Publication The association between pneumococcal vaccination, ethnicity, and the nasopharyngeal microbiota of children in Fiji.
Publication Pneumococcal carriage in children in Ulaanbaatar, Mongolia before and one year after the introduction of the 13-valent pneumococcal conjugate vaccine.
Publication Activating variants in PDGFRB result in a spectrum of disorders responsive to imatinib monotherapy.