One major challenge encountered with interpreting human genetic variants is the limited
understanding of the functional impact of genetic alterations on biological processes. …

Diagnosis at the edges of our knowledge calls upon clinicians to be data driven, cross-disciplinary,
and collaborative in unprecedented ways. Exact disease recognition, an element of …

Early B cell factor 3 (EBF3) is a member of the highly evolutionarily conserved Collier/Olf/EBF
(COE) family of transcription factors. Prior studies on invertebrate and vertebrate animals …

Interferon regulatory factor 2 binding protein-like (IRF2BPL) encodes a member of the IRF2BP
family of transcriptional regulators. Currently the biological function of this gene is obscure…

Purpose Generalized arterial calcification of infancy (GACI), characterized by vascular
calcifications that are often fatal shortly after birth, is usually caused by deficiency of ENPP1. A …

Purpose Sixty to seventy-five percent of individuals with rare and undiagnosed phenotypes
remain undiagnosed after exome sequencing (ES). With standard ES reanalysis resolving 10…

ATP synthase, H + transporting, mitochondrial F1 complex, δ subunit (ATP5F1D; formerly
ATP5D) is a subunit of mitochondrial ATP synthase and plays an important role in coupling …

SMARCC2 (BAF170) is one of the invariable core subunits of the ATP-dependent chromatin
remodeling BAF (BRG1-associated factor) complex and plays a crucial role in …

The ASXL genes (ASXL1, ASXL2, and ASXL3) participate in body patterning during embryogenesis
and encode proteins involved in epigenetic regulation and assembly of transcription …

Optimal lysosome function requires maintenance of an acidic pH maintained by proton pumps
in combination with a counterion transporter such as the Cl − /H + exchanger, CLCN7 (ClC…