A novel mutation alters GNE bifunctional enzyme activity and leads to familial inherited GNE diseases.

Distal myopathies are a group of rare heterogeneous diseases that are mostly caused by genetic factors. At least 20 genes have been associated with distal myopathies. We performed whole-exome sequencing to identify the genetic cause of disease in a family with distal myopathy.

Comprehensive research on the distribution of HLA-DRB1 in Chinese populations.

By presenting antigen peptides, HLA-DRB1 plays an important role in the immune system. However, the allele frequency of HLA-DRB1 exon 2 across China has not been comprehensively studied, especially in minority populations. We sampled 3757 individuals from 59 population.

Impact of ultrasonography on identifying noninvasive prenatal screening false-negative aneuploidy.

Background: To evaluate the impact of ultrasonography on identifying noninvasive prenatal screening (NIPS) false-negative aneuploidy.

Methods: Analysis of large population-based NIPS false-negative aneuploidy data comprising karyotypes, clinical outcomes, and ultrasound results.

Results: From December 2010 to July 2018, a total of 3,320,457 pregnancies were screened by NIPS performed in BGI; among them, 69 NIPS false-negative aneuploidy cases with informed consent were confirmed, and ultrasound examination data for 48 cases were not available.