Linjuan Yuan, Shanshan Cheng, Xian Liu, Wenhua Liu, Ting Xie, Wei Xie, Zi Chao Zhang, Junhai Han. "The missense mutation Y65C in PQBP1 causes microcephaly and cognitive deficits through a combination of partial loss-of-function and gain-of-function effects." Nature Communications, 2026. doi:10.1038/s41467-025-68202-5