Julie M. McGaughran

The paper reports 37 new cases of RBM10 variants, identifies two phenotypic groups, and establishes a genotype-phenotype correlation based on functional studies.

The paper develops an automated tool for reanalyzing genomic data in rare disease cohorts, showing improved diagnostic yields through iterative reanalysis.

The paper reports a rare splice-site variant in TNNT2 found in Oceanian ancestry individuals, highlighting the need for diverse genomic datasets to avoid misclassification of variants.