Oana Moldovan - Publications

Clinical, in vitro, and in vivo evidence of WAPL as a novel cohesinopathy gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

Journal: medRxiv : the preprint server for health sciences

Published: March 11, 2026

Clinical, in vitro, and in vivo evidence of WAPL as a novel cohesinopathy gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

Journal: medRxiv : the preprint server for health sciences

Published: March 11, 2026

Clinical, in vitro, and in vivo evidence of WAPL as a cohesinopathy-associated gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

Journal: American journal of human genetics

Published: February 15, 2026

A personalized genomic-medicine approach to rare genomic disorders associated with simple chromosomal structural variants.

Journal: HGG advances

Published: October 11, 2025

Phenotype and outcome of patients with hypertrophic cardiomyopathy MYH7 variants: A longitudinal cohort study.

Journal: Revista portuguesa de cardiologia : orgao oficial da Sociedade Portuguesa de Cardiologia = Portuguese journal of cardiology : an official journal of the Portuguese Society of Cardiology

Published: October 03, 2025

Arrhythmogenic cardiomyopathy: double, double toil, and trouble.

Journal: European heart journal. Case reports

Published: July 08, 2025

Systemic Sclerosis Associated Pulmonary Arterial Hypertension with Venous Involvement - a Novel ABCC8 Pathogenic Variant.

Journal: Arquivos brasileiros de cardiologia

Published: March 11, 2025

VCP variants cause Adams-Oliver syndrome with or without pulmonary hypertension.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: November 28, 2024

Mutations in VCP cause Adams-Oliver syndrome with or without pulmonary hypertension.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: November 28, 2024

Etiology of sudden cardiac arrest: Literature review and proposal for an intensive care unit study protocol.

Journal: Revista portuguesa de cardiologia : orgao oficial da Sociedade Portuguesa de Cardiologia = Portuguese journal of cardiology : an official journal of the Portuguese Society of Cardiology

Published: November 26, 2024

A familial case of diffuse periventricular nodular heterotopia identified prenatally: Filamin A defect as the probable cause.

Journal: Radiology case reports

Published: May 24, 2024

Role of TBX20 Truncating Variants in Dilated Cardiomyopathy and Left Ventricular Noncompaction.

Journal: Circulation. Genomic and precision medicine

Published: February 14, 2024