The field of clinical genetics and genomics continues to evolve. In the past few decades,
milestones like the initial sequencing of the human genome, dramatic changes in …

Exome sequencing (ES) is a recommended first-tier diagnostic test for many rare monogenic
diseases. It allows for the detection of both single-nucleotide variants (SNVs) and copy …

Simple Summary Congenital heart disease is associated with substantial mortality and
morbidity as well as socioeconomic burden, and increasing research underscores the …

The Drosophila heart tube seems simple, yet it has notable anatomic complexity and
contains highly specialized structures. In fact, the development of the fly heart tube much …

Introduction: As the most frequent type of birth defect in humans, congenital heart disease
(CHD) leads to a large amount of morbidity and mortality as well as a tremendous …

Tetralogy of Fallot (TOF) is the most prevalent cyanotic congenital heart pathology and
causes infant morbidity and mortality worldwide. GATA‑binding protein 4 (GATA4) serves as …

Objective: Aggregating evidence convincingly establishes the predominant genetic basis
underlying congenital heart defects (CHD), though the heritable determinants contributing to …

Objectives: The PartneRships in cOngeniTal hEart disease (PROTEA) project aims to
establish a densely phenotyped and genotyped Congenital Heart Disease (CHD) cohort for …

Methyltransferase-like 23 (METTL 23) is a kind of RNA methyltransferase that catalyzes the
methylation transfer to the N6-adenosine of RNA, serving as one of the key mediators in this …

Congenital heart defects (CHDs), the most common congenital anomalies, are considered to
have a significant genetic component. However, despite considerable efforts to identify …