Abstract Purpose For neurodevelopmental disorders (NDDs), etiological evaluation can be a
diagnostic odyssey involving numerous genetic tests, underscoring the need to develop a …

Despite the discovery of modified nucleic acids nearly 75 years ago, their biological
functions are still being elucidated. N 6‐methyladenosine (m6A) is the most abundant …

Covalent chemical modifications of cellular RNAs directly impact all biological processes.
However, our mechanistic understanding of the enzymes catalyzing these modifications …

MFSD2A is a sodium-dependent lysophosphatidylcholine symporter that is responsible for
the uptake of docosahexaenoic acid into the brain,, which is crucial for the development and …

Genetic risk factors for autism spectrum disorder (ASD) have yet to be fully elucidated.
Postzygotic mosaic mutations (PMMs) have been implicated in several neurodevelopmental …

Approximately 1% of the global population is affected by intellectual disability (ID), and the
majority receive no molecular diagnosis. Previous studies have indicated high levels of …

Autosomal recessive (AR) gene defects are the leading genetic cause of intellectual
disability (ID) in countries with frequent parental consanguinity, which account for about …

Intellectual disability (ID) is a common morbid condition with a wide range of etiologies. The
list of monogenic forms of ID has increased rapidly in recent years thanks to the …

We describe six persons from three families with three homozygous protein truncating
variants in PUS7: c. 89_90del (p. Thr30Lysfs∗ 20), c. 1348C> T (p. Arg450∗), and a deletion …

The study of the epitranscriptome has thus far focused largely on mRNA methylation. Recent
human genetics studies suggest that methylation of ribosomal RNA also contributes to brain …