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Metabolomic profiling in treated mucopolysaccharidosis IH reveals candidate biomarkers and adjunctive therapeutic pathways.
Rare protein-coding variation and the genetic architecture of height in >1.4 million individuals.
Structural variant discovery and diagnostic impact in rare diseases from short-read and long-read sequencing.
Hyperleukocytosis and outcomes in pediatric B-cell acute lymphoblastic leukemia: A report from the REDIAL Consortium.
Neonatal Brain Network Integration Trajectories Predict Neurodevelopment in Congenital Heart Disease.
Multi-Ancestry Epigenome-Wide Meta-Analysis Identifies Novel Bulk and Cell-Type-Specific Epigenetic Markers of Asthma with Severe Exacerbations.
High risk of hypoxemic COVID-19 pneumonia in myasthenia gravis patients with type I IFN autoantibodies.
Leveraging human genetic variation to therapeutically target hundreds of genes with dominant & dispensable disease alleles.
Sustained High Prevalence of Multiple Antimalarial Drug Resistance Markers in Uganda in 2023-24.
A Multi-Omics Study Reveals Pathway-Level Insights and Predictive Biomarkers in pediatric TB.