Valerie Race

TL;DR: These guidelines for the evaluation and validation of next-generation sequencing (NGS) applications for the diagnosis of genetic disorders seem to be valuable for the harmonization and quality assurance of NGS diagnostics in Europe.

TL;DR: It is shown that TMEM165 deficiency causes Golgi glycosylation defects in HEK cells, and the affected individuals are homozygous for a deep intronic splice mutation in TM EM165.

TL;DR: There was clinical evidence of a muscular dystrophy–dystroglycanopathy syndrome, supported by deficient O‐mannosylation by muscle immunohistochemistry, in 3 children from 2 families with a severe neurological phenotype.

TL;DR: The first two identified cases of phosphoserine aminotransferase deficiency has been identified in two siblings who showed low concentrations of serine and glycine in plasma and cerebrospinal fluid and mutational analysis revealed compound heterozygosity for two mutations in the PSAT1 gene in both siblings.

TL;DR: It is confirmed that MAN1B1 is indeed localized to the Golgi complex instead of the ER, and an altered Golgi morphology in all patients' cells is observed, and it is hypothesize that part of the phenotype is associated to this Golgi disruption.