Qiuyue Hu

Single novel mutation in transmembrane region of glycoprotein (GP) IX affects GP Ib‐ IX complex expression and causes Bernard–Soulier syndrome

Guang-bin Sun, Na Sun, Li-min Xu, 2010, British journal of haematology.

Identification of a novel SUOX pathogenic variants as the cause of isolated sulfite oxidase deficiency in a Chinese pedigree

Weiying Jiang, Jie Xie, Hualei Luo, 2021, Molecular genetics & genomic medicine.

Novel recessive PDZD7 biallelic mutations associated with hereditary hearing loss in a Chinese pedigree.

Weiying Jiang, Jie Xie, Hualei Luo, 2019, Gene.