Author
Bambino Gesù Children's HospitalORCID 0000-0002-4133-714XUnclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
3 papers
Recent·Most cited
Tanner J. Nelson, Daniel E. McGinn, Terrence Blaine Crowley…·Donna M. McDonald‐McGinn
This study examines congenital heart disease in individuals with distal 22q11.22-23 deletions, finding lower prevalence compared to proximal deletions and identifying specific cardiac anomalies.
Yingjie Zhao, Yujue Wang, Lijie Shi…·Bernice E. Morrow
The paper identifies chromatin regulatory genes as genetic modifiers of conotruncal heart defects in 22q11.2 deletion syndrome and links them to sporadic congenital heart disease.
Gioia Mastromoro, Giulio Calcagni, Paolo Versacci…·Antonio Baldini
The paper evaluates left pulmonary artery dimensions in 22q11.2DS patients without cardiac defects and finds reduced LPA/RPA ratios, supported by Tbx1 mutant mouse studies showing similar anomalies.