Kabuki syndrome (KS) is a rare developmental disorder principally comprised of
developmental delay, hypotonia and a clearly defined dysmorphism: elongation of the …

Orofacial clefts (OFCs) have multiple etiologies and likely result from an interplay between
genetic and environmental factors. Within the last decade, studies have implicated specific …

Specialized chromatin-binding proteins are required for DNA-based processes during
development. We recently established PWWP2A as a direct histone variant H2A. Z interactor …

Whole‐exome sequencing (WES) enables identification of pathogenic variants, including
copy number variants (CNVs). In this study, we performed WES in 101 Japanese patients …

Abstract Histone H3 Lys4 (H3K4) methylation is catalyzed by the Histone–Lysine N-
Methyltransferase 2 (KMT2) protein family, and its members are required for gene …

The neural crest is a unique, transient stem cell population that is critical for craniofacial and
ocular development. Understanding the genetics underlying the steps of neural crest …

Kabuki syndrome (KS) is a congenital craniofacial disorder resulting from mutations in the
KMT2D histone methylase (KS1) or the UTX histone demethylase (KS2). With small cohorts …

O-GlcNAc transferase (OGT) is the sole enzyme responsible for the post-translational
modification O-GlcNAc on thousands of target nucleocytoplasmic proteins. To date, nine …

Individuals with Kabuki syndrome present with immunodeficiency; however, how pathogenic
variants in the gene encoding the histone-modifying enzyme lysine methyltransferase 2D …

Background Persistent neonatal hypoglycemia, owing to the possibility of severe
neurodevelopmental consequences, is a leading cause of neonatal care admission …