Tandem repeats represent one of the most abundant class of variations in human genomes,
which are polymorphic by nature and become highly unstable in a length-dependent …

Background Short tandem repeat (STR) expansion disorders are an important cause of
human neurological disease. They have an established role in more than 40 different …

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

Fewer than half of individuals with a suspected Mendelian or monogenic condition receive a
precise molecular diagnosis after comprehensive clinical genetic testing. Improvements in …

More than 50 neurological and neuromuscular diseases are caused by short tandem repeat
(STR) expansions, with 37 different genes implicated to date. We describe the use of …

After extensive evaluation, one-third of patients affected by polyneuropathy remain
undiagnosed and are labelled as having chronic idiopathic axonal polyneuropathy, which …

Objective To delineate the full phenotypic spectrum, discriminative features, piloting
longitudinal progression data, and sample size calculations of replication factor complex …

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 …

CANVAS caused by RFC1 biallelic expansions is a major cause of inherited sensory
neuronopathy. Detection of RFC1 expansion is challenging and CANVAS can be associated …

Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS) is a progressive
late-onset, neurological disease. Recently, a pentanucleotide expansion in intron 2 of RFC1 …