Mitochondria are critical for brain development and homeostasis. Therefore, pathogenic
variation in the mitochondrial or nuclear genome which disrupts mitochondrial function …

Disruptions in spatiotemporal gene expression can result in atypical brain function.
Specifically, autism spectrum disorder (ASD) is characterized by abnormalities in pre‐mRNA …

Protein-truncating variants (PTVs) near the 3′ end of genes may escape nonsense-
mediated decay (NMD). PTVs in the NMD-escape region (PTVescs) can cause Mendelian …

Purpose This study aims to assess the diagnostic utility and provide reporting
recommendations for clinical DNA methylation episignature testing based on the cohort of …

Cancer poses intricate challenges to treatment due to its complexity and diversity.
Ferroptosis and circular RNAs (circRNAs) are emerging as innovative therapeutic avenues …

Neurodevelopmental disorders (NDDs) are a clinically and genetically heterogeneous
group of early-onset pediatric disorders that affect the structure and/or function of the central …

Analysis of genomic DNA methylation by generating epigenetic signature profiles
(episignatures) is increasingly being implemented in genetic diagnosis. Here we report our …

The last decade has been highlighted by the increased use of next-generation DNA
sequencing technology to identify novel human disease genes. A critical downstream part of …

In biomedical research, particularly for rare diseases (RDs), there is a critical need for model
organisms to unravel the mechanistic basis of diseases, perform biomarker studies and …

In digenic inheritance, pathogenic variants in two genes must be inherited together to cause
disease. Only very few examples of digenic inheritance have been described in the …