POU3F3, also referred to as Brain-1, is a well-known transcription factor involved in the
development of the central nervous system, but it has not previously been associated with a …

Inherited GPI deficiencies (IGDs) are a subset of congenital disorders of glycosylation that
are increasingly recognized as a result of advances in whole-exome sequencing (WES) and …

Background Aicardi Goutières Syndrome (AGS) is a heritable interferonopathy associated
with systemic autoinflammation causing interferon (IFN) elevation, central nervous system …

Nuclear receptor subfamily 2 group F member 2 (NR2F2 or COUP-TF2) encodes a
transcription factor which is expressed at high levels during mammalian development. Rare …

Dilated cardiomyopathy (DCM) belongs to the most frequent forms of cardiomyopathy mainly
characterized by cardiac dilatation and reduced systolic function. Although most cases of …

De novo variants in QRICH1 (Glutamine‐rich protein 1) has recently been reported in 11
individuals with intellectual disability (ID). The function of QRICH1 is largely unknown but it is …

Background The non-POU domain containing octamer-binding gene (NONO) is located on
chromosome Xq13.1 and encodes a member of a small family of RNA-binding and DNA-…

Mitochondrial DNA (mtDNA) depletion syndrome manifests as diverse early-onset diseases
that affect skeletal muscle, brain and liver function. Mutations in several nuclear DNA-…

Mutations that alter signaling of RAS/MAPK-family proteins give rise to a group of Mendelian
diseases known as RASopathies. However, among RASopathies, the matrix of genotype-…

Neuromyelitis optica spectrum disorder (NMOSD) is an autoimmune disease primarily
affecting the optic nerves and spinal cord, which is usually associated with anti-aquaporin-4 …