A primary goal of human genetics is to identify DNA sequence variants that influence
biomedical traits, particularly those related to the onset and progression of human disease …

DNA methylation (DNAme) and histone post-translational modifications (PTMs) have
important roles in transcriptional regulation. Although many reports have characterized the …

Purpose We describe the clinical implementation of genome-wide DNA methylation analysis
in rare disorders across the EpiSign diagnostic laboratory network and the assessment of …

In this study, we report the experience of the only reference clinical next-generation
sequencing lab in Saudi Arabia with the first 1000 families who span a wide-range of …

Background Kabuki syndrome (KS) is a clinically recognisable syndrome in which 70% of
patients have a pathogenic variant in KMT2D or KDM6A. Understanding the function of …

Functional neurological disorder (FND) is a common cause of persistent and disabling
neurological symptoms. These symptoms are varied and include abnormal control of …

Accurate diagnosis is the cornerstone of medicine; it is essential for informed care and
promoting patient and family well-being. However, families with a rare genetic disease …

Conventional genetic testing of individuals with neurodevelopmental presentations and
congenital anomalies (ND/CAs), ie, the analysis of sequence and copy number variants …

The epigenetic machinery in conjunction with the transcriptional machinery is responsible
for maintaining genome-wide chromatin states and dynamically regulating gene expression …

Overlapping clinical phenotypes and an expanding breadth and complexity of genomic
associations are a growing challenge in the diagnosis and clinical management of …