Zhiyv Niu

TL;DR: W whole-exome sequencing identified the underlying genetic defect in 25% of consecutive patients referred for evaluation of a possible genetic condition.

TL;DR: Whole-exome sequencing provided a potential molecular diagnosis for 25% of a large cohort of patients referred for evaluation of suspected genetic conditions, including detection of rare genetic events and new mutations contributing to disease, and may offer advantages over traditional molecular diagnostic approaches in certain patients.

TL;DR: It is demonstrated that transient inhibition of miR-21 in SSC-enriched germ cell cultures increased the number of germ cells undergoing apoptosis and significantly reduced the numberof donor-derived colonies of spermatogenesis formed from transplanted treated cells in recipient mouse testes, indicating that miR -21 is important in maintaining the SSC population.

TL;DR: This study confirms the involvement of SYNGAP1 in autism while providing novel insight into the epileptic manifestations associated with its disruption, and suggests that the de novo missense mutations, p.R579X, and possibly all the other truncating mutations in SYngAP1 result in a loss of its function.

TL;DR: Early WES experience in adults demonstrates molecular diagnoses in a substantial proportion of patients, informing clinical management, recurrence risk, and recommendations for relatives, informing the Mendelian basis of genetic disease in adults.