Abstract Trachea-esophageal defects (TEDs), including esophageal atresia (EA),
tracheoesophageal fistula (TEF), and laryngeal-tracheoesophageal clefts (LTEC), are a …

Extreme phenotype sequencing has led to the identification of high-impact rare genetic
variants for many complex disorders but has not been applied to studies of severe …

Hundreds of different genetic causes of chronic kidney disease are now recognized, and
while individually rare, taken together they are significant contributors to both adult and …

Human vertebral malformations (VMs) have an estimated incidence of 1/2000 and are
associated with significant health problems including congenital scoliosis (CS) and recurrent …

Background Recurrent pregnancy loss defined as the occurrence of two or more pregnancy
losses before 20-24 weeks of gestation, is a prevalent and significant pathological condition …

Accumulating studies suggest that splicing factors play important roles in many diseases
including human cancers. Our study revealed that WBP11, a core splicing factor, is highly …

Over two dozen spliceosome proteins are involved in human diseases, also referred to as
spliceosomopathies. WW domain-binding protein 4 (WBP4) is part of the early spliceosomal …

Splicing is a crucial regulatory node of gene expression that has been leveraged to expand
the proteome from a limited number of genes. Indeed, the vast increase in intron number that …

Myhre syndrome is a connective tissue disorder characterized by congenital cardiovascular,
craniofacial, respiratory, skeletal, and cutaneous anomalies as well as intellectual disability …

Developmental abnormalities provide a unique opportunity to seek for the molecular
mechanisms underlying human organogenesis. Esophageal development remains …