Abstract The Human Gene Mutation Database (HGMD®) constitutes a comprehensive
collection of published germline mutations in nuclear genes that underlie, or are closely …

Cytochrome c oxidase (COX) deficiency is characterized by a high degree of genetic and
phenotypic heterogeneity, partly reflecting the extreme structural complexity, multiple post …

We report our results of 1000 diagnostic WES cases based on 2819 sequenced samples
from 54 countries with a wide phenotypic spectrum. Clinical information given by the …

Technological and other advances over the past decades have led to the discovery of
thousands of gene–disease associations for autosomal and X-linked recessive Mendelian …

Craniofacial microsomia (CFM; also known as Goldenhar syndrome), is a craniofacial
developmental disorder of variable expressivity and severity with a recognizable set of …

Here we report whole exome sequencing (WES) on a cohort of 71 patients with persistently
unresolved white matter abnormalities with a suspected diagnosis of leukodystrophy or …

Next-generation sequencing technologies allow for rapid and inexpensive large-scale
genomic analysis, creating unprecedented opportunities to integrate genomic data into the …

Diagnosing primary mitochondrial diseases is challenging in clinical practice. Although,
defective oxidative phosphorylation (OXPHOS) is the common final pathway, it is unknown …

Mitochondria produce the bulk of the energy used by almost all eukaryotic cells through
oxidative phosphorylation (OXPHOS) which occurs on the four complexes of the respiratory …

Selenocysteine is the 21st proteinogenic amino acid inmammals. The human genome
contains 25 genes encoding selenoproteins, and their significance for human health is …