Erika Souche

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: The data suggest that the missense mutations in ATP6AP2 lead to impaired V-ATPase assembly and subsequent defects in glycosylation and autophagy, which is related to liver disease, immunodeficiency, cutis laxa, and psychomotor impairment.

TL;DR: It is demonstrated that MAGT1-deficient patients have a defect in glycosylation, and a different phenotype for the disorder is described, confirming the presumed role ofMAGT1 as a subunit of the OST.

TL;DR: Target sequencing of the coding regions of 57 genes previously implicated in CHD was performed in 36 patients from 13 nonsyndromic CHD families with probable autosomal dominant inheritance, and six potential disease causing variants in three genes were identified, which may explain the defects in six families.

TL;DR: No significant differences in P2X7R binding were found between HV and PD patients and a possible genotype effect was identified which can affect VT, suggesting that genotype effects need to be incorporated in future P2x7R PET analyses.