Mitochondria are multifaceted organelles with key roles in anabolic and catabolic
metabolism, bioenergetics, cellular signalling and nutrient sensing, and programmed cell …

Genomic technologies, such as targeted, exome and short-read genome sequencing
approaches, have revolutionized the care of patients with rare genetic diseases. However …

Abstract Charcot-Marie-Tooth disease (CMT) is one of the most common and genetically
heterogeneous inherited neurological diseases, with more than 130 disease-causing genes …

It is now widely accepted that aberrant splicing of constitutive exons is often caused by
mutations affecting cis-acting splicing regulatory elements (SREs), but there is a …

Mitochondrial disorders are a group of rare and heterogeneous genetic diseases
characterized by dysfunctional mitochondria leading to deficient adenosine triphosphate …

In the era of precision medicine, genome sequencing (GS) has become more affordable and
the importance of genomics and multi-omics in clinical care is increasingly being …

Background A major obstacle faced by families with rare diseases is obtaining a genetic
diagnosis. The average" diagnostic odyssey" lasts over five years and causal variants are …

Purpose To identify therapies for combined D, L-2-hydroxyglutaric aciduria (C-2HGA), a rare
genetic disorder caused by recessive variants in the SLC25A1 gene. Methods Patients C …

Background Thousands of genes have been associated with different Mendelian conditions.
One of the valuable sources to track these gene-disease associations (GDAs) is the Online …

RNA sequencing (RNA-seq) enables the accurate measurement of multiple transcriptomic
phenotypes for modeling the impacts of disease variants. Advances in technologies …