Purpose Pathogenic variants in the chromatin organizer CTCF were previously reported in
seven individuals with a neurodevelopmental disorder (NDD). Methods Through …

BACKGROUND Neural tube defects (NTDs) are the second most common birth defects, after
congenital heart defects. Telomerase, the reverse transcriptase that maintains telomere …

Diagnostic exome sequencing has recently emerged as an invaluable tool in determining
the molecular etiology of cases involving dysmorphism and developmental delay that are …

Primary cilia are a component of almost all vertebrate cells with a crucial role in sensing and
transducing environmental signals during tissue development. Their dysfunction is known as …

Numerous contiguous gene deletion syndromes causing neurodevelopmental disorders
have previously been defined using cytogenetics for which only in the current genomic era …

Heterozygous variants in CLTC, which encode the clathrin heavy chain protein, cause
neurodevelopmental delay of varying severity, and often accompanied by dysmorphic …

Background Primary autosomal recessive microcephaly (MCPH) is a rare developmental
disorder characterized by cognitive impairment, delayed neurodevelopment, and reduced …

Ubiquitination of proteins and their degradation within the proteasome has emerged as the
major proteolytic mechanism used by mammalian cells to regulate cytosolic and nuclear …

CCCTC-Binding Factor (CTCF) is a protein-coding gene involved in transcriptional
regulation, insulator activity, and regulation of chromatin structure, and is closely associated …

Mutations in the potassium channel tetramerization domain-containing 7 (KCTD7) gene are
associated with a severe neurodegenerative phenotype characterized by childhood onset of …