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Cynthia A. James

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Open access Sep 2026

An Updated Evidence Assessment of the Genetic Causes of Dilated Cardiomyopathy.

BACKGROUND Evidence of the diverse genetic architecture of dilated cardiomyopathy (DCM) continues to emerge and requires reassessment of the clinical relevance of implicated disease genes. Building on the 2019-2020 Clinical Genome Resource evaluation, the DCM gene curation expert panel reconvened in 2024-2025 to conduc...

E. Jordan, Phoenix L. Grover, P. Parker et al. · 0 citations
Open access Sep 2026

Generation of an induced pluripotent stem cell line, JHUi010-A, from an arrhythmogenic cardiomyopathy patient harboring pathogenic DSG2 variant c.2358delA.

We generated a human induced pluripotent stem cell (hiPSC) clonal line, JHUi010-A, from a 48-year-old female diagnosed with arrhythmogenic cardiomyopathy (ACM) carrying a heterozygous DSG2 c.2358delA variant using Sendai virus vectors expressing the Yamanaka factors. The line exhibits a normal karyotype, expresses stem...

Christianne J. Chua, D. Disilvestre, Adriana Blazeski et al. · 0 citations
Open access Jul 2026

Damaging RBM20 E-rich domain variants are not rescued by gene replacement

The data indicate that pathogenic E-rich domain variants reduce RBM20 protein abundance, but that their mechanism is unlikely to be explained by haploinsufficiency alone.

Bai Fang, Kaiser Chua, Daniel Y. Li et al. · 0 citations

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