Yuko Wada

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.

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

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.

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

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 shows that most SCN5A missense loss-of-function variants cause dominant negative effects and are associated with higher Brugada Syndrome risk.

The paper identifies pathogenic variants in arrhythmia genes in eMERGE-III participants and reclassifies variants of uncertain significance using functional studies.

This study reclassifies SCN5A variants using high-throughput patch clamping, finding most variants of uncertain significance are either benign or pathogenic.

This study uses GWAS to identify Mendelian and non-Mendelian variants associated with retinitis pigmentosa, uncovering new genetic causes and therapeutic targets.

The paper performs a deep mutational scan of SCN5A variants to assess their functional impact, identifying 40 gain and 33 loss of function variants with high accuracy.

The paper identifies a common variant in the Japanese population that shows quasi-Mendelian inheritance patterns in rare retinal ciliopathy.