Dystonia is a prevalent, heterogeneous movement disorder characterized by involuntarily
abnormal postures. Biomarkers of dystonia are notoriously lacking. Here, a biomarker is …

HNRNPU encodes a multifunctional RNA-binding protein that plays critical roles in
regulating pre-mRNA splicing, mRNA stability, and translation. Aberrant expression and …

Background Dystonia is a clinically and genetically heterogeneous movement disorder
characterized by sustained or intermittent muscle contractions causing abnormal, often …

Genes that are involved in the transcription process, mitochondrial function, glycoprotein
metabolism, and ubiquitination dominate the list of 21 new genes associated with X‐linked …

Over the past decade high‐throughput DNA sequencing approaches, namely whole exome
and whole genome sequencing became a standard procedure in Mendelian disease …

Mendelian neurodevelopmental disorders customarily present with complex and
overlapping symptoms, complicating the clinical diagnosis. Individuals with a growing …

In this review we discuss epigenetic disorders that result from aberrations in genes linked to
epigenetic regulation. We describe current testing methods for the detection of copy number …

Purpose: Patients with rare or ultra-rare genetic diseases, which affect 350 million people
worldwide, may experience a diagnostic odyssey. High-throughput sequencing leads to an …

Temple syndrome (TS) and Kagami-Ogata syndrome (KOS) are imprinting disorders caused
by absence or overexpression of genes within a single imprinted cluster on human …

Kabuki syndrome (KS) is characterized by typical facial features (long palpebral fissures with
eversion of the lateral third of the lower eyelid; arched and broad eyebrows; short columella …