The Global Commission: Accelerating Time to Diagnosis for Children with a Rare Disease and Empowering Families
From Precision Medicine to Precision Public Health: Opportunities and Challenges
Expanding Clinical Impact: Myotonic Dystrophy Testing From Short Read WGS Data
Genetics in Epilepsy: One Mystery at a Time
When an uncertain variant + an uncertain gene = clinical certainty
Variants of uncertain significance may have clinical relevance and could guide clinical management.