Shirlee Shril

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.

The paper reconstructs the protein interactome of the Last Eukaryotic Common Ancestor and identifies new human gene-disease associations for bone density and congenital birth defects.

This study identifies new genes and shared genetic architecture between kidney anomalies and other developmental disorders using exome-wide analysis of clinical cohorts.

The paper identifies variants in PRPF8 and related genes associated with CAKUT, showing their role in splicing and ciliogenesis through functional experiments.

The paper identifies de novo mutations contributing to meningomyelocele risk by analyzing trios and finding damaging mutations in 22.3% of cases.

The paper detects and classifies copy number variants in exome data from 6,633 families, identifying causal CNVs in 173 families and improving classification standards.

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.

This paper shows that Cys1 gene mutations cause ARPKD by altering Myc expression, using mouse models and a human patient case.