Eva D’haene

Variant curation of the largest compendium of FOXL2 coding and non-coding sequence and structural variants in BPES

The paper curates and classifies the largest compendium of FOXL2 sequence and structural variants in BPES, identifying key mutational patterns and improving diagnostic and genetic counseling.

TurboID proximity interactome mapping reveals NR2E3 association with AP-1 and retinal developmental complexes

This study maps the proximity interactome of NR2E3 and its G56R variant using TurboID, revealing interactions with retinal development complexes and identifying BCOR as enriched in the mutant network.

Loss-of-function of the Zinc Finger Homeobox 4 (ZFHX4) gene underlies a neurodevelopmental disorder

This study identifies ZFHX4 loss-of-function variants as a cause of a neurodevelopmental disorder with distinctive facial features and brain abnormalities, supported by zebrafish models.

Stress attenuation by the adrenergic-specific lncRNA NESPR prevents cell death in neuroblastoma cells

The paper identifies NESPR, an adrenergic-specific lncRNA, as a regulator of neuroblastoma cell identity that prevents cell death by attenuating stress.

Non-coding structural variants identify a commonly affected regulatory region steering FOXG1 transcription in early neurodevelopment

The paper identifies a regulatory region affecting FOXG1 transcription in neurodevelopment through structural variants and chromatin analysis.

A distant global control region is essential for normal expression of anterior HOXA genes during mouse and human craniofacial development.

The paper identifies a critical noncoding superenhancer region essential for regulating anterior HOXA genes in craniofacial development, showing its deletion causes severe developmental defects in mice and a human patient.

Comparative 3D genome analysis between neural retina and RPE reveals differential cis-regulatory interactions at retinal disease loci

The paper compares 3D genome structures between neural retina and RPE to identify tissue-specific cis-regulatory interactions at retinal disease loci.

Transcriptional and functional consequences of alterations to MEF2C and its topological organization in neuronal models

The paper investigates the effects of MEF2C mutations and chromatin structural variants on transcriptional and functional outcomes in neuronal models, revealing differential impacts based on mutation type and chromatin topology.

Multi-omics profiling, in vitro and in vivo enhancer assays dissect the cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy

This study identifies cis-regulatory elements and non-coding variants associated with North Carolina macular dystrophy using multi-omics and enhancer assays.

HDAC9 structural variants disrupting TWIST1 transcriptional regulation lead to craniofacial and limb malformations

The paper identifies structural variants in HDAC9 that disrupt TWIST1 regulatory elements, causing craniofacial and limb malformations through altered transcriptional regulation.