Lies Vantomme

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.

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.

Full characterization of unresolved structural variation through long-read sequencing and optical genome mapping

This study uses long-read sequencing and optical genome mapping to fully characterize unresolved structural variants, achieving single-basepair resolution and improving diagnostic yield.

A novel neurodevelopmental syndrome caused by loss-of-function of the Zinc Finger Homeobox 3 (ZFHX3) gene

This paper identifies loss-of-function variants in ZFHX3 as a cause of syndromic intellectual disability and describes its role in chromatin remodeling and DNA methylation.

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.