The 22q11. 2 deletion syndrome (22q11. 2DS) is a congenital malformation and
neuropsychiatric disorder caused by meiotic chromosome rearrangements. One of the goals …

Congenital heart disease (CHD) is the most common birth defect occurring in humans and
some transcriptional factors have been identified as causative. However, additional mutation …

Congenital heart defects (CHDs) are the most common birth defect with 30%‐40% being
explained by genetic aberrations. With next generation sequencing becoming widely …

Congenital heart disease (CHD) is the most prevalent type of birth defect in humans and is
the leading non-infectious cause of infant death worldwide. There is a growing body of …

Congenital heart disease (CHD) is a genetically heterogeneous disease. Targeted next-
generation sequencing (NGS) offers a unique opportunity to sequence multiple genes at …

Conotruncal defects (CTDs) account for~ 30% of all types of congenital heart disease and
contribute to increased morbidity and mortality rates. Increasing evidence suggests that …

T-Box transcription factors are expressed throughout the gestational period and coordinate a
variety of embryonic events that enable proper development, from the first differentiation of …

Introduction Autism spectrum disorder (ASD) is a developmental disorder that can cause
substantial social, communication, and behavioral challenges. Genetic factors play a …

Background: The basic helix-loop-helix transcription factor HAND1 is essential for cardiac
development and structural remodeling, and mutations in HAND1 have been causally linked …

It is currently believed that the TBX1 gene is one of the core genes of congenital heart
disease (CHD). However, there are few studies on the abnormal regulation of TBX1 gene …