prof. dr. ir. Sarah Vergult
- Work address
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C. Heymanslaan 10, ingang 34 (MRB)
9000 Gent - Sarah.Vergult@UGent.be
- ORCID iD
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0000-0002-0816-6262
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- Journal Article
- A1
- open access
Expanding the phenotype of B3GALNT2-related disorders
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Multi-omics profiling, in vitro and in vivo enhancer assays dissect the cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy
(2022) -
A distant global control region is essential for normal expression of anterior HOXA genes during mouse and human craniofacial development
(2022) -
- Miscellaneous
- open access
Transcriptional and functional consequences of alterations to MEF2C and its topological organization in neuronal models
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MYT1L-associated neurodevelopmental disorder : description of 40 new cases and literature review of clinical and molecular aspects
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HDAC9 structural variants disrupting TWIST1 transcriptional regulation lead to craniofacial and limb malformations
(2021) -
Structural variants disrupt a critical regulatory region downstream of FOXG1
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- Journal Article
- A1
- open access
A reassessment of copy number variations in congenital heart defects : picturing the whole genome
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A novel neurodevelopmental syndrome caused by loss-of-function of the Zinc Finger Homeobox 3 gene (ZFHX3)
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Phenotypic spectrum of the RBM10-mediated intellectual disability and congenital malformation syndrome beyond classic TARP syndrome features