Marta Unolt - Publications

Deletion size and background genetic variation shape congenital heart disease phenotypes in 3,016 individuals with 22q11.2 deletion syndrome.

Journal: medRxiv : the preprint server for health sciences

Published: March 27, 2026

Deletion size and background genetic variation shape congenital heart disease phenotypes in 3,016 individuals with 22q11.2 deletion syndrome.

Journal: medRxiv : the preprint server for health sciences

Published: March 27, 2026

Prevalence and Spectrum of Congenital Heart Disease in Individuals With Distal Chromosome 22q11.22-23 Deletions.

Journal: Clinical genetics

Published: October 06, 2025

Laterality, heterotaxy, and isolated congenital heart defects : The genetic basis of the segmental nature of the heart.

Journal: Genome medicine

Published: July 24, 2024

Long-term incidence of arrhythmias in extracardiac conduit Fontan and comparison between systemic left and right ventricle.

Journal: Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology

Published: January 11, 2024

Prenatal vs postnatal diagnosis of 22q11.2 deletion syndrome: cardiac and noncardiac outcomes through 1 year of age.

Journal: American journal of obstetrics and gynecology

Published: June 15, 2023

Chromatin regulators in the TBX1 network confer risk for conotruncal heart defects in 22q11.2DS.

Journal: NPJ genomic medicine

Published: February 10, 2023

Improved Outcomes in Patients with 22q11.2 Deletion Syndrome and Diagnosis of Interrupted Aortic Arch Prior to Birth Hospital Discharge, a Retrospective Study.

Journal: Genes

Published: October 14, 2022

Clinical Risk Factors for Aortic Root Dilation in Patients with 22q11.2 Deletion Syndrome: A Longitudinal Single-Center Study.

Journal: Genes

Published: October 10, 2022

Updated clinical practice recommendations for managing children with 22q11.2 deletion syndrome.

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

Published: May 03, 2022

22q11.2 Deletion Syndrome: Impact of Genetics in the Treatment of Conotruncal Heart Defects.

Journal: Children (Basel, Switzerland)

Published: February 28, 2022

Congenital heart defects in molecularly confirmed KBG syndrome patients.

Journal: American journal of medical genetics. Part A

Published: June 05, 2021