Sandra T. Cooper

Myopathy-causing variants of PYROXD1 converge on impaired RNA ligation

This study identifies how PYROXD1 myopathy-causing variants impair RNA ligation by affecting RTCB activation and protein stability.

Structural variant discovery and diagnostic impact in rare diseases from short-read and long-read sequencing

This study evaluates the diagnostic yield of short-read and long-read sequencing in rare diseases, finding limited added value from long-read sequencing despite increased variant discovery.

Expert Panel Curation of 31 Genes in Relation to Limb Girdle Muscular Dystrophy

The paper curates 31 genes associated with limb girdle muscular dystrophy (LGMD) using an expert panel and clinical validity framework, identifying 35 gene-disease relationships with varying levels of evidence.

Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis

This study evaluates genome sequencing's diagnostic yield in a cohort of undiagnosed rare disease patients, finding it solves 29.3% of cases with specific variant types not detectable by exome sequencing.

Empirical prediction of variant-associated cryptic-donors with 87% sensitivity and 95% specificity

The paper develops an empirical method to predict cryptic-donor activation by genetic variants with 87% sensitivity and 95% specificity using RNA-sequencing data.

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

Transcriptome sequencing improves the diagnostic rate for Mendelian disease in patients for whom genetic analysis has not returned a diagnosis.