Npj Genomic Medicine

Targeted resequencing identifies genes with recurrent variation in cerebral palsy

Dominant TOM1 mutation associated with combined immunodeficiency and autoimmune disease

Exome sequencing for paediatric-onset diseases: impact of the extensive involvement of medical geneticists in the diagnostic odyssey

Rare TP53 variant associated with Li-Fraumeni syndrome exhibits variable penetrance in a Saudi family

Predictive value of genomic screening: cross-sectional study of cystic fibrosis in 788 electronic health records

Clinical relevance of screening checklists for detecting cancer predisposition syndromes in Asian childhood tumours

Predictors of next-generation sequencing panel selection using a shared decision-making approach

Two different STAT1 gain-of-function mutations lead to diverse IFN-gamma-mediated gene expression

Molecular yield of targeted sequencing for Glanzmann thrombasthenia patients

Improving imputation in disease-relevant regions: lessons from cystic fibrosis