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A gene-specific, risk-based screening algorithm for relatives with titin-truncating variants optimizes monitoring intervals from 1 to 5 years, improving safety and resource use in dilated cardiomyopathy surveillance.
A prospective study reveals that ultra-rare cardiomyopathy gene variants significantly increase risk for early heart failure in infants with hypoplastic left heart syndrome, highlighting potential for genetic risk stratification and precisi
The VRONI study demonstrates the feasibility and effectiveness of combined biochemical and genetic screening for familial hypercholesterolaemia (FH) in children, revealing a higher FH prevalence than previously reported and supporting natio
Population-based genetic screening and prospective follow-up of at-risk children reduce the severity of type 1 diabetes at diagnosis and enhance one-year treatment outcomes, including lower HbA1c and insulin requirements.
Comprehensive genetic screening of triple negative thrombocytosis reveals germline MPL compound mutations and truncating SH2B3/LNK alterations, offering new insights into diagnosis and personalized management.
This WISDOM Study analysis found that most women with breast cancer pathogenic variants would not have been flagged for high-risk screening by clinical or polygenic risk models alone, supporting population-based genetic testing.
A large French case series found pathogenic or likely pathogenic germline MBD4 variants in 23 of 896 patients with uveal melanoma, corresponding to a 31-fold relative risk versus the general population.
