Joachim De Jonghe

This paper introduces PEP-seq, a method linking genetic variants to transcriptomic states, and shows it can detect functional effects of eQTLs and nonsense-mediated decay.

The paper identifies biallelic variants in RNU4-2 causing a recessive neurodevelopmental syndrome with distinct white matter changes, expanding the known genotypic and phenotypic spectrum of RNU4-2-related disorders.

This study uses saturation genome editing to analyze RNU4-2 variants, identifying functional impacts and redefining the ReNU syndrome critical region.

This study uses Saturation Genome Editing to functionally assess VHL variants, identifying pathogenic alleles and their mechanisms in cancer.

spinDrop improves single-cell sequencing by reducing noise and increasing detection rates, enabling high-quality molecular atlases of mouse brain development and organogenesis.

This study shows that ETiX mouse embryos, generated from stem cells, develop through gastrulation and neurulation, forming anterior brain regions and a beating heart, and recapitulate natural embryonic development.

This study shows that Plakoglobin regulates naive pluripotency in mouse ESCs through mechanosensitivity, with expression specific to the blastocyst stage in human and mouse embryos.

The paper introduces VASA-seq, a method for total single-cell RNA-seq in mice, revealing non-coding RNA expression and alternative splicing during development.