Anna Rajab

TL;DR: This study, the largest published so far, has revealed additional mutations in 23 genes previously implicated in intellectual disability or related neurological disorders, as well as single, probably disease-causing variants in 50 novel candidate genes.

TL;DR: Results indicate that the a2 subunit of the proton pump has an important role in Golgi function.

TL;DR: In this paper, the authors reported homozygous missense mutations in both intracellular and extracellular domains of ROR2 in affected individuals from three unrelated consanguineous families, and a nonsense mutation that removes the tyrosine kinase domain and all subsequent 3' regions of the gene in 14 patients from 7 families from Oman.

TL;DR: The authors' findings link mutations in PYCR1 to altered mitochondrial function and progeroid changes in connective tissues, which led to epidermal hypoplasia and blistering that was accompanied by a massive increase of apoptosis.

TL;DR: PTRF-CAVIN deficiency presents the phenotypic spectrum caused by a quintessential lack of functional caveolae, and is essential for Caveolae biogenesis.