Abstract The Trithorax group (TrxG) of proteins is a large family of epigenetic regulators that
form multiprotein complexes to counteract repressive developmental gene expression …

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

We describe a workflow for preprocessing of single-cell RNA-sequencing data that balances
efficiency and accuracy. Our workflow is based on the kallisto and bustools programs, and is …

Human survival is dependent upon the continuous delivery of O2 to each cell in the body in
sufficient amounts to meet metabolic requirements, primarily for ATP generation by oxidative …

The epigenetic machinery in conjunction with the transcriptional machinery is responsible
for maintaining genome-wide chromatin states and dynamically regulating gene expression …

Background The cell cycle is a highly conserved, continuous process which controls faithful
replication and division of cells. Single-cell technologies have enabled increasingly precise …

Abstract KMT2C and KMT2D are the most frequently mutated epigenetic genes in human
cancers. While KMT2C is identified as a tumor suppressor in acute myeloid leukemia (AML) …

Weaver syndrome is a Mendelian disorder of the epigenetic machinery (MDEM) caused by
germline pathogenic variants in EZH2, which encodes the predominant H3K27 …

The OMICs cascade describes the hierarchical flow of information through biological
systems. The epigenome sits at the apex of the cascade, thereby regulating the RNA and …

The use of induced pluripotent stem cells (iPSC) as models for development and human
disease has enabled the study of otherwise inaccessible tissues. A remaining challenge in …