We have used the three-dimensional culture system in alginate beads to redifferentiate
human articular chondrocytes which were first expanded on a plastic support. After 15 days in …

Across a variety of Mendelian disorders, ∼50–75% of patients do not receive a genetic
diagnosis by exome sequencing indicating disease-causing variants in non-coding regions. …

Mutations in the gene coding for the catalytic subunit of the mitochondrial DNA (mtDNA)
polymerase γ (POLG1) have recently been described in patients with diverse clinical …

Ellis-van Creveld syndrome (EvC, MIM 225500) is an autosomal recessive skeletal dysplasia
characterized by short limbs, short ribs, postaxial polydactyly and dysplastic nails and teeth …

Background Next generation sequencing has become the core technology for gene discovery
in rare inherited disorders. However, the interpretation of the numerous sequence variants …

Background Lack of functional evidence hampers variant interpretation, leaving a large
proportion of individuals with a suspected Mendelian disorder without genetic diagnosis after …

Leber’s hereditary optic neuropathy (LHON) is the most frequent mitochondrial disease and
was the first to be genetically defined by a point mutation in mitochondrial DNA (mtDNA). A …

… p control fibroblasts; lane 3 p fibroblasts from patient 1; lane 4 p myoblasts, undifferentiated
from patient 1; lane 5 p … 1; lane 6 p muscle from patient 1; lanes 7–10 p muscle from controls. …

Whole-exome sequencing and autozygosity mapping studies, independently performed in
subjects with defective combined mitochondrial OXPHOS-enzyme deficiencies, identified a …

The autosomal recessive kidney disease nephronophthisis (NPHP) constitutes the most
frequent genetic cause of terminal renal failure in the first 3 decades of life. Ten causative genes …