Xiaofei Song

The paper identifies de novo variants in PCBP1 causing neurodevelopmental disorders, showing impaired dendritic arborization and increased exon skipping in T cells.

The paper identifies collagen remodeling as a mechanism that activates a GPCR-mediated immune checkpoint in ADGRG1+ CD8+ T cells, influencing response to immunotherapy.

The paper identifies genomic and transcriptional changes in multiple myeloma cells that drive resistance to anti-BCMA therapies, termed 'plasma cell identity escape'.

The paper analyzes the Turkish population's variome to understand its impact on rare disease traits, finding that long ROHs and inbreeding contribute to recessive diseases.

The paper investigates how different FBN1 truncating mutations cause distinct clinical phenotypes in Marfan syndrome and Marfanoid-progeroid-lipodystrophy syndrome through molecular and genetic analysis.

The paper combines exome sequencing and array-based comparative genomic hybridization to identify genetic risk factors in familial Parkinson’s disease, finding novel SNVs and CNVs.