Christelle Borel

The paper identifies a dominant monoallelic PAK2 variant causing Knobloch syndrome type 2 with intellectual disability and retinal degeneration.

The paper combines regulatory element activity, gene expression, and genetic variation data across cell types to show how chromatin structure influences regulatory networks and genetic effects.

The paper uses single-cell allele-specific expression to identify novel XCI escapees and reveals cellular heterogeneity in XCI driven by XIST.

The paper uses single-cell transcriptomes to analyze gene dosage imbalance in aneuploidies, revealing both temporal and spatial dimensions of gene expression changes in trisomies.

This study quantifies genomic, proteomic, and phenotypic variability in HeLa cells across laboratories and passages, revealing implications for research reproducibility.

Time-course single-cell RNA-seq of NR5A1-GFP+ mouse XY gonad cells points to one multipotent somatic progenitor pool that yields Sertoli cells and, progressively, steroidogenic Leydig precursors.

The paper uses single-cell RNA sequencing to analyze leukemic CD34+/CD38- blasts from AML patients, identifying transcriptomic features of self-renewal, mutation effects, and prognostic gene signatures.