Purpose This meta-analysis aims to compare the diagnostic and clinical utility of exome
sequencing (ES) vs genome sequencing (GS) in pediatric and adult patients with rare …

Isolated populations have been valuable for the discovery of rare monogenic diseases and
their causative genetic variants. Finnish disease heritage (FDH) is an example of a group of …

The KCNA1 gene encodes Kv1. 1 voltage-gated potassium channel α subunits, which are
crucial for maintaining healthy neuronal firing and preventing hyperexcitability. Mutations in …

Background The aim of the study was to characterize molecular diagnoses in patients with
childhood-onset progressive neurological disorders of suspected genetic etiology. Methods …

Pathogenic variants in the IRF2BPL gene are associated with neurodevelopmental
disorders with varying degrees of regression, loss of speech and epilepsy. The phenotype is …

Mutations in mitochondrial DNA encoded subunit of ATP synthase, MT-ATP6, are frequent
causes of neurological mitochondrial diseases with a range of phenotypes from Leigh …

Mitochondrial ATP synthase (Complex V) catalyzes the last step of oxidative
phosphorylation and provides most of the energy (ATP) required by human cells. The …

The global burden of undiagnosed diseases, particularly in adults, is rising due to their
significant socioeconomic impact. To address this, we enrolled 232 adult probands with …

AFG3L2 is a zinc metalloprotease and an ATPase localized in an inner mitochondrial
membrane involved in mitochondrial quality control of several nuclear-and mitochondrial …

Abstract The Ehlers‐Danlos syndromes (EDS) are a heterogeneous group of heritable
connective tissue diseases. The autosomal recessive kyphoscoliotic EDS results from …