Steven Laurie

The paper presents a standardized RNA-seq analysis framework for rare disease diagnosis, identifying molecular diagnoses in 7.7% of previously undiagnosed cases.

This study identifies a heterozygous 9q34 deletion involving SPTAN1 as a cause of distal myopathy, showing age-dependent effects and highlighting CNV detection in exome sequencing for diagnosis.

This study identifies structural variants in 6224 rare disease exomes, finding 0.4% diagnostic yield with 8 previously undetected pathogenic SVs.

The paper uses HiFi long-read sequencing to identify genetic variants in undiagnosed rare disease families, finding novel diagnoses in 13% of cases and candidate variants in 4.3%.

This paper uses multilayer network analysis to identify molecular determinants of severity in Congenital Myasthenic Syndromes by integrating protein-protein interactions, pathways, and metabolomics data.

The paper describes a unified data infrastructure for rare disease research, enabling collaborative analysis of multi-omics data across institutions.

VarGenius-HZD detects rare homozygous and hemizygous deletions in targeted sequencing with higher sensitivity than existing tools.

The paper identifies new genetic variants in patients with Angelman syndrome-like features, expanding the known genetic spectrum and highlighting genetic heterogeneity.