Seema R. Mital

Integrative analysis reveals regulatory effects of tandem repeat expansions in tetralogy of Fallot.

This study identifies rare tandem repeat expansions (TREs) in TOF patients, showing their enrichment in regulatory regions and association with DNA methylation and transcriptional changes.

A validated heart-specific model for splice-disrupting variants in childhood heart disease

The paper develops a heart-specific model to predict splice-disrupting variants in childhood heart disease, identifying variants missed by existing tools and showing higher accuracy in cardiac genes.

Myosin inhibitor reverses hypertrophic cardiomyopathy in pediatric iPSC-cardiomyocytes to mirror variant correction

This study shows that a myosin ATPase inhibitor reverses HCM phenotypes in pediatric iPSC-cardiomyocytes, with effects dependent on the underlying genetic variant.

Age and Sex Differences in the Genetics of Cardiomyopathy

This study identifies genetic differences between pediatric and adult cardiomyopathy, finding more constrained variants in childhood cases and female patients.

KMT2D-NOTCH Mediates Coronary Abnormalities in Hypoplastic Left Heart Syndrome

This study identifies KMT2D-NOTCH signaling defects in HLHS coronary artery endothelial cells, showing impaired differentiation and proliferation due to suppressed NOTCH target genes.

Quality of Whole Genome Sequencing from Blood versus Saliva Derived DNA in Cardiac Patients

The paper compares the quality of whole-genome sequencing from blood and saliva samples in cardiac patients, finding saliva is a viable alternative for detecting sequence variants.

Control iPSC lines with clinically annotated genetic variants for versatile multi-lineage differentiation

The paper describes the generation of genetically annotated iPSC lines from healthy donors and demonstrates their use in creating disease-relevant cell types and identifying variant-preferred lines for control in disease modeling.

Single-Cell RNA-Seq Reveals Endocardial Defect in Hypoplastic Left Heart Syndrome

This study uses single-cell RNA sequencing to identify endocardial defects in hypoplastic left heart syndrome, linking them to abnormal valve and septum development.