Dan M. Roden

The paper investigates E-rich domain variants of RBM20, showing they reduce protein abundance and cause splicing defects, but are not rescued by RBM20 overexpression.

The paper develops a multidimensional assay to assess variant effects in MYBPC3, reclassifying variants and uncovering disease mechanisms in hypertrophic cardiomyopathy.

This study identifies rare and low-frequency non-coding variants at the SCN5A locus associated with Brugada syndrome using whole-genome sequencing and functional assays.

The paper performs large-scale GWAS and RVAS on 392,030 whole genomes from All of Us, identifying 49,863 associations and 193 novel pLoF gene-phenotype links through meta-analysis with UK Biobank.

The paper maps the functional landscape of KCNQ1 variants to identify pathogenic and benign variants, revealing their impact on arrhythmia risk and ion channel mechanisms.

The paper uses automated patch clamp data to reclassify SCN5A variants in Brugada Syndrome, improving variant classification and penetrance stratification.

This study sequenced 35,024 individuals with predominantly African ancestry to address gaps in genomics and healthcare, finding under-documented disease variants and novel associations with drug adverse events and glycemic control.

The paper introduces EFP-Analyzer, a software tool for analyzing extracellular field potentials from iPSC-derived cardiomyocytes, showing it accurately measures intervals and detects drug or mutation effects.

The paper generates hiPSC lines from patients with extreme polygenic scores for QT interval to study LQTS genetic and cellular complexity.

The paper develops a clinical algorithm to identify individuals with G6PD p.Val68Met variant at risk for diabetes undertreatment using routine lab measurements.

The paper develops a polygenic risk score for baseline QTc and shows it predicts sotalol-induced QT prolongation in a cohort of healthy subjects.

This paper introduces ParSE-seq, a multiplexed assay to assess splice-altering variants, showing high correlation between experimental and computational predictions.

This paper evaluates how functional variant data and penetrance estimates improve risk stratification for LQTS in KCNH2 missense variant carriers.

The paper validates an in vitro SCN5A Brugada Syndrome assay to reclassify variants of uncertain significance as pathogenic or benign.

The paper evaluates computational predictors for rare variant burden tests and identifies two top predictors that enhance gene-trait association discovery in the UK Biobank.

The paper estimates mCA fitness in the NHLBI TOPMed cohort and identifies genetic variants associated with clonal expansion rates.

The paper analyzes pathogenic variant frequencies in the All of Us cohort by ancestry, revealing disparities and potential biases in genomic data.

The paper identifies a novel SCN5A variant, E171Q, that creates a gating pore current by neutralizing a negative charge in the S2 helix, leading to MEPPC and altered voltage dependence.

This study identifies genetic variants in epilepsy, cardiomyopathy, and arrhythmia genes in a sudden death in the young cohort, finding enrichment of damaging variants and a correlation with younger age at death.

This study investigates the clinical consequences of a genetic predisposition to lower white blood cell counts using a polygenic score and finds associations with bone marrow biopsy outcomes and treatment responses.

The paper validates novel telomere length regulation genes POP5 and KBTBD6 identified through trans-ancestry GWAS using functional experiments in blood cells.

The paper selects and validates ten polygenic risk scores for clinical use in diverse populations, focusing on chronic diseases and addressing disparities in predictive performance.

This study maps the functional effects of thousands of KCNE1 variants using high-throughput methods, identifying loss-of-function and loss-of-surface expression variants and showing concordance with electrophysiological and computational data.

This paper develops a method to identify undiagnosed carriers of a rare Mendelian disease variant by detecting distant familial relatedness in biobanks.

The paper develops PACER to infer clonal expansion rates from single timepoint data and identifies TCL1A activation as a mediator of clonal hematopoiesis fitness.

The paper develops Bayesian models to estimate variant penetrance in Mendelian cardiac channelopathies, revealing continuous penetrance distributions and structural insights.

This study compares meta-analysis and pooled analysis approaches in cross-cohort GWAS of lipid measures, finding method-specific variants and implications for TRE design and analysis.

The paper uses functional assays to reclassify splice-altering variants in Brugada Syndrome and Long QT Syndrome genes, identifying pathogenic and benign classifications.

The paper uses personalized structural biology to analyze de novo KCNC2 variants in a DEE patient, revealing distinct functional effects of two nearby variants.

This study uses EHR data to identify gene-phenotype associations and develop phenotype risk scores for variant interpretation in hereditary cancer genes.