Christine E. Seidman

The paper maps missense variants in cardiomyopathy genes to a cryo-EM model of the cardiac thick filament, identifying molecular interfaces critical for disease pathogenesis.

This study uses engineered human iPSCs to show that SMAD2 mutations linked to CHD disrupt kidney podocytogenesis and glomerular structure, leading to proteinuria.

This study uses AI to show that genome sequencing can predict adverse outcomes after congenital heart defect surgery by identifying damaging genotypes in specific genes.

The paper identifies trans-heterozygous digenic variants in laterality defect genes using exome/genome sequencing data from CHD cohorts, finding significant enrichment in laterality cases compared to controls.

The paper identifies sex differences in cardiac metabolism, showing female hearts have higher fatty acid oxidation gene expression and energy utilization compared to male hearts.

This study uses engineered human cardiac tissues to show how SLE autoantibodies affect myocardial injury through distinct binding patterns and functional effects on cardiac cells.

This paper presents an informatic method to identify germline de novo mutations in family trios using consensus across variant callers, achieving high precision and recall.

This study reprograms non-limb fibroblasts into cells with limb progenitor properties using Prdm16, Zbtb16, Lin28, and Lin41.

This study uses rare variant linkage analysis and long-read sequencing to identify a pathogenic FSHD1 allele in a family, mapping the disease locus to chromosome 4q35.2.

The paper presents a comprehensive catalog of structural variants across 138,134 individuals, identifying novel variants and their associations with cardio-metabolic and hematologic traits.

This study identifies a CHD4 missense mutation causing ventricular noncompaction by repressing ADAMTS1-mediated trabeculation cessation in mice and humans.

This study performs a large GWAS on dilated cardiomyopathy, identifying two new loci and confirming two existing ones, with potential therapeutic implications.

The paper models TBX5 haploinsufficiency in iPSC-derived cardiomyocytes to identify gene regulatory network imbalances linked to congenital heart disease.

This study identifies 59 sentinel variants and two novel genes associated with telomere length using whole genome sequences from 109,122 trans-ethnic individuals.

The paper characterizes the cellular composition and gene expression of the adult human heart using single-cell transcriptomics, identifying distinct cell types and their functional roles.

The paper develops a framework for de novo variant identification using FreeBayes and a neural network, achieving high accuracy in SNVs and indels through validation with Sanger sequencing.

The paper shows that DNA double-strand breaks induce epigenomic changes that accelerate the aging clock in mammals.

This study identifies C4 genes in the MHC locus as sex-specific contributors to risk for lupus, Sjogrens syndrome, and schizophrenia, with stronger effects in men than women.

The paper identifies mosaic mutations in blood and cardiac tissue from CHD patients, finding 1% of cases have detectable mosaic variants that may contribute to congenital heart disease.

The paper estimates the risk of five disorders from paternal-age-related de novo mutations using whole-exome-sequencing data and Danish registry data.

The paper identifies sex-specific gene expression changes in human myocardial tissue after ischemia, highlighting differences in pathways and cell-type proportions between males and females.

The paper shows that MYBPC3 mutations disrupt myosin relaxation states, leading to hyper-contractility in HCM, and that targeting myosin can alleviate these effects.

The paper introduces MEM, a method to identify deletion CNVs in WES and WGS trio data by clustering Mendelian errors, achieving high validation rates and detecting additional de novo deletions and contamination.

This study shows that Baf60c regulates gene expression programs critical for heart development and function by interacting with Myocardin and controlling contractile proteins and metabolic genes.