Neil James Sebire

This study identifies spatially distinct fetal and maternal cell contributions to severe preeclampsia, highlighting new maternal immune signatures and potential therapeutic targets.

This paper investigates VEGF supplementation as a treatment for congenital diaphragmatic hernia (CDH)-associated lung abnormalities using an ex vivo model and nanoparticle-based delivery in vivo.

The paper analyzes the transcriptomic differences in 45,X tissues compared to 46,XX and 46,XY controls during early human fetal and placental development, identifying gene expression changes associated with Turner syndrome.

The paper identifies manufacturing plasmid sequences and disrupted vector genomes in liver tissue from a patient with AAV gene therapy-related hepatitis.

This study demonstrates that AAV9-mediated gene therapy prevents liver dysfunction in a mouse model of DGUOK deficiency.

RNA sequencing in bronchial biopsies from wheezing infants and children < 2 years shows evidence for an airway epithelial hillock-to-squamous differentiation pathway that marks the development of asthma.

This study identifies inherited PPP2R3B duplications as a melanoma predisposing factor, revealing a C21orf91-driven proliferative phenotype in melanocytes.

This study uses whole genome sequencing of placental biopsies to show that human placentas exhibit clonal expansions, copy number changes, and developmental bottlenecks similar to childhood cancer.