Author

Adam S. Helms

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Sep 2026

Atrial Fibrillation in Genotyped Dilated Cardiomyopathy: Epidemiology, Risk Factors, and Outcomes: Insights From the SHaRe Registry.

BACKGROUND Atrial fibrillation (AF) is the most common arrhythmia in dilated cardiomyopathy (DCM) and is associated with adverse outcomes. However, the genetic determinants of AF risk and its prognostic significance across genotyped DCM subtypes remain unknown. METHODS In this observational cohort study, we analyzed...

I. Balakrishnan, A. Heymans, B. Claggett et al. · Circulation: Heart Failure · 0 citations

#gene editing Open access Sep 2026

Mapping and rewiring the MYBPC3 promoter for rescue of haploinsufficiency driven hypertrophic cardiomyopathy

This work presents a variant-agnostic approach to rescue haploinsufficiency by mapping and rationally redesigning the MYBPC3 promoter and identifies synergistic sequence edits that drive robust increases in MYBPC3 expression.

Aaron Renberg, S. Coppersmith, Owen Merritt et al. · bioRxiv · 0 citations

#gene editing Open access Sep 2026

Genomic Engineering of Gene Dosage: A Generalizable Framework for Modeling Haploinsufficiency-Mediated Human Disorders through Splicing Modulation

Heterozygous loss-of-function variants causing gene dosage reduction underlie many human genetic disorders, yet preclinical mouse models frequently fail to recapitulate human disease phenotypes due to post-translational compensation. Here, we present a generalizable framework to modulate gene dosage by alternative spli...

Eric D. Smith, Joshua K. Meisner, Abbey Bullard et al. · bioRxiv · 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. · bioRxiv · 0 citations

Open access Jul 2026

Homozygous Nonsense DSP Variants Selectively Affecting Desmoplakin I Cause Carvajal Syndrome in a Consanguineous Arabian Family with Four Affected Female Siblings

A novel homozygous nonsense variant in the transcript 1-specific region of DSP causing Carvajal syndrome is described, characterized by severe biventricular ACM, epidermolytic palmoplantar keratoderma, and woolly hair, in a consanguineous Arabian family with four affected sisters.

Dalal A. Al-Mutairi, Mustafa Alqbandi, A. AlTurki et al. · Journal of Clinical Medicine · 0 citations