Despite enormous efforts employing various approaches, the molecular pathology in the
schizophrenia brain remains elusive. On the other hand, the knowledge of the association …

Expansions of gene-specific DNA tandem repeats (TRs), first described in 1991 as a
disease-causing mutation in humans, are now known to cause> 60 phenotypes, not just …

Tandem repeat (TR) variation is associated with gene expression changes and numerous
rare monogenic diseases. Although long-read sequencing provides accurate full-length …

We performed whole-genome sequencing (WGS) in 327 children with cerebral palsy (CP)
and their biological parents. We classified 37 of 327 (11.3%) children as having …

Abstract Parvalbumin-expressing (PV+) interneurons represent one of the most abundant
subclasses of cortical interneurons. Owing to their specific electrophysiological and synaptic …

Over a third of the human genome is comprised of repetitive sequences, including more than
a million short tandem repeats (STRs). While studies of the pathologic consequences of …

Background Cardiomyopathy is a clinically and genetically heterogeneous heart condition
that can lead to heart failure and sudden cardiac death in childhood. While it has a strong …

Expansions of short tandem repeats (STRs) cause many rare diseases. Expansion detection
is challenging with short-read DNA sequencing data since supporting reads are often …

Micro RNA (miRNA) research has great implications in uncovering the aetiology of
neuropsychiatric conditions due to the role of miRNA in brain development and function …

To date, approximately 50 short tandem repeat (STR) disorders have been identified; yet,
clinical laboratories rarely conduct STR analysis on exomes. To assess its diagnostic value …