Leukodystrophies (LD) and genetic leukoencephalopathies (gLE) are disorders that result
in white matter abnormalities in the central nervous system (CNS). Magnetic resonance (MR) …

The transcriptional networks that regulate embryonic stem (ES) cell pluripotency and lineage
specification are the subject of considerable attention. To date such studies have focused …

It has been reported that relatively short RNAs of heterogeneous sizes are derived from
sequences near the promoters of eukaryotic genes. As part of the FANTOM4 project, we have …

Australian Genomics is a national collaborative partnership of more than 100 organizations
piloting a whole-of-system approach to integrating genomics into healthcare, based on …

Background The majority of introns in gene transcripts are found within the coding sequences
(CDSs). A small but significant fraction of introns are also found to reside within the …

Critically ill infants and children with rare diseases need equitable access to rapid and
accurate diagnosis to direct clinical management. Over 2 years, the Acute Care Genomics …

The 3′ untranslated regions (3′UTRs) of eukaryotic genes regulate mRNA stability,
localization and translation. Here, we present evidence that large numbers of 3′UTRs in human, …

Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) is a rare hereditary
leukoencephalopathy that was originally identified by MRI pattern analysis, and it has …

Inherited white-matter disorders are a broad class of diseases for which treatment and
classification are both challenging. Indeed, nearly half of the children presenting with a …

We have recently shown that transcription initiation RNAs (tiRNAs) are derived from sequences
immediately downstream of transcription start sites. Here, using cytoplasmic and nuclear …