The spliceosome is a complex of RNA and proteins that function together to identify intron‐
exon junctions in precursor messenger‐RNAs, splice out the introns, and join the flanking …

The exon junction complex (EJC) becomes an increasingly important regulator of early gene
expression in the central nervous system (CNS) and other tissues. The EJC is comprised of …

22q11. 2 deletion syndrome (DS) is the most frequent copy number variant (CNV) affecting~
1/1,000 fetuses and~ 1/2,000–4,000 children, resulting in recognizable but variable findings …

Abstract 1q21. 1 hemizygous microdeletion is a copy number variant leading to eightfold
increased risk of schizophrenia. In order to investigate biological alterations induced by this …

Cleft lip with or without cleft palate (CL/P) is a common birth defect with a complex,
heterogeneous etiology. It is well established that common and rare sequence variants …

Abstract Spontaneous abortion occurs in 8–20% of recognized pregnancies and usually
takes place in the first trimester (7–11 weeks). There are many causes of pregnancy loss, but …

The genetic correlates of extreme impulsive violence are poorly understood, and there have
been no studies that have systematically characterized a large group of affected individuals …

Objectives Isobaric tags for relative and absolute quantitation (iTRAQ) is a proteomic
investigation that could be utilized for rapid identification and quantification of proteins …

Congenital scoliosis (CS) is a lateral curvature of the spine resulting from congenital
vertebral malformations (CVMs) and affects 0.5–1/1000 live births. The copy number variant …

Abstract Recurrent 1q21. 1 copy number variants (CNVs) have been associated with a wide
spectrum of clinical features, ranging from normal phenotype to moderate intellectual …