Neil James Sebire

Spatially resolved fetal and maternal cell contributions to severe Preeclampsia

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

The transcriptomic landscape of monosomy X (45,X) during early human fetal and placental development

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.

Contaminating manufacturing plasmids and disrupted vector genomes present in liver tissue following adeno-associated virus gene therapy

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

GENE THERAPY PREVENTS HEPATIC MITOCHONDRIAL DYSFUNCTION IN MURINE DEOXYGUANOSINE KINASE DEFICIENCY

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

Childhood-onset asthma is characterized by airway epithelial hillock-to-squamous differentiation in early life

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.

Inherited duplications of PPP2R3B promote naevi and melanoma via a novel C21orf91-driven proliferative phenotype

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

Somatic mutations reveal widespread mosaicism and mutagenesis in human placentas

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.