Publication Activating variants in PDGFRB result in a spectrum of disorders responsive to imatinib monotherapy.
Publication A patient with homozygous nonsense variants in two Leigh syndrome disease genes: Distinguishing a dual diagnosis from a hypomorphic protein-truncating variant.
Publication Exploring the feasibility and utility of exome-scale tumour sequencing in a clinical setting.
Publication Primary pulmonary actinomycosis: a retrospective analysis of 145 cases in mainland China.
Publication Epitope-specific immunotherapy targeting CD4-positive T cells in coeliac disease: two randomised, double-blind, placebo-controlled phase 1 studies.
