Weimin Bi

TL;DR: Exome sequencing is a powerful tool for the diagnostic evaluation of critically ill infants with suspected monogenic disorders in the neonatal and pediatric intensive care units and its use has a notable effect on clinical decision making.

TL;DR: In this article, the authors designed and implemented protocols for the study of cases for which a plausible molecular diagnosis was not achieved in a clinical genomics diagnostic laboratory (i.e., unsolved clinical exomes).

TL;DR: An efficient genomics pipeline in which clinical sequencing in a diagnostic laboratory is followed by the detailed reanalysis of unsolved cases in a research environment, supplemented with WES data from additional family members, and subject to adjuvant bioinformatics analyses including relaxed variant filtering parameters in informatics pipelines, can enhance the molecular diagnostic yield and provide mechanistic insights into Mendelian disorders.

TL;DR: Prenatal exome sequencing is a useful diagnostic tool when fetal structural anomalies suggest a genetic etiology, but other standard prenatal genetic tests did not provide a diagnosis.

TL;DR: The data support the biological importance of PSMD12 as a scaffolding subunit in proteasome function during development and neurogenesis in particular and enable the definition of a neurodevelopmental disorder due to PSMD 12 variants, expanding the phenotypic spectrum of UPS-dependent disorders.