Cathy Smith

This paper introduces a framework to model haploinsufficiency-mediated human disorders by modulating gene dosage through splicing, demonstrating its application in creating accurate animal models for cardiomyopathies.

The paper generates disease-specific genetic effect maps on the blood transcriptome for five glomerular diseases using whole genome and transcriptome sequencing data from the CureGN cohort.

The paper identifies known and novel splicing-disruptive variants in WT1 exon 9 using high-throughput assays, finding 16 new variants and 19 variants increasing the KTS+/KTS- ratio.

This study benchmarks eight splice variant prediction algorithms using experimental data from massively parallel splicing assays, finding that deep learning models like SpliceAI and Pangolin perform best but challenges remain for exonic variants.

This study uses high-throughput functional assays to reclassify variants of uncertain significance in Lynch Syndrome, improving variant interpretation and clinical outcomes.

The paper identifies splice-disruptive POU1F1 variants, including synonymous ones, associated with hypopituitarism using high-throughput splicing assays.