Hui Huang

This study generates an Fzd8-knockout mouse model using CRISPR/Cas9 to investigate its role in bone development and homeostasis, finding altered osteoclast and osteoblast activity and potential links to osteoporosis.

This study evaluates the sensitivity and coverage of clinical whole-genome sequencing (WGS) for detecting genetic variants, finding that 40X mean depth achieves high sensitivity for SNVs and indels but not 100%.

This study develops a chip-based sequencing method to detect monogenic diseases and chromosomal abnormalities, identifying 102 mutations in 63 patients with 69 new mutations.

The paper reports a familial case of Syndactyly type IV caused by a novel LMBR1 gene duplication, highlighting clinical variability and expanding the known phenotype.