The genomes of individuals with severe, undiagnosed developmental disorders are
enriched in damaging de novo mutations (DNMs) in developmentally important genes. Here …

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 …

Mutations in core components of the spliceosome are responsible for a group of syndromes
collectively known as spliceosomopathies. Patients exhibit microcephaly, micrognathia …

Pre-mRNA splicing is a highly coordinated process. While its dysregulation has been linked
to neurological deficits, our understanding of the underlying molecular and cellular …

Purpose Congenital anomalies and intellectual disability (CA/ID) are a major diagnostic
challenge in medical genetics—50% of patients still have no molecular diagnosis after a …

Alternative splicing (AS) is a critical regulatory layer; yet, factors controlling functionally
coordinated splicing programs during developmental transitions are poorly understood …

In clinical exome sequencing (cES), the American College of Medical Genetics and
Genomics recommends limiting variant interpretation to established human-disease genes …

Purpose CHARGE syndrome is an autosomal-dominant, multiple congenital anomaly
condition characterized by vision and hearing loss, congenital heart disease, and …

Abstract Purpose The SF3B splicing complex is composed of SF3B1-6 and PHF5A. We
report a developmental disorder caused by de novo variants in PHF5A. Methods Clinical …

PUF60 encodes a nucleic acid-binding protein, a component of multimeric complexes
regulating RNA splicing and transcription. In 2013, patients with microdeletions of …