Catherine A. Brownstein

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.

This study uses exome sequencing to identify genetic associations with interstitial cystitis/bladder pain syndrome, finding new links and extending known associations.

The paper evaluates two self-phenotyping tools, showing that GenomeConnect provides more accurate phenotype profiles while Phenotypr offers greater precision and user preference for its autocomplete format.

This study examines how dup15q affects gene expression and chromatin accessibility in specific brain cell types, finding cell-type-specific effects and distinct regulatory mechanisms in ASD and dup15q.

The paper functionally tests ASD missense variants in Drosophila, finding 38% caused functional alterations and identifying GLRA2 as a cause of neurodevelopmental phenotypes.

GEM, an AI-based tool, ranks causal genes highly for rare genetic diseases, improving diagnostic efficiency and reducing manual effort.

This study identifies ATP1A3 variants in children with polymicrogyria and maps ATP1A3 expression patterns in human neocortex development using single-cell RNA sequencing.

This study identifies pathogenic sodium channel variants in SUDP patients and shows they cluster at conserved amino acid sites across the SCN gene family.