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
- open access
Phenotypic spectrum of the RBM10-mediated intellectual disability and congenital malformation syndrome beyond classic TARP syndrome features
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Expanding the molecular spectrum and the neurological phenotype related to CAMTA1 variants
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The functional annotation and exploration the SOX11 enhanceosome
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Whole genome sequencing and 4C techniques provide novel insights into the genetic architecture and mechanisms underlying North Carolina macular dystrophy, a cis-regulatory disease
(2020) -
Whole genome sequencing and 4C techniques provide novel insights into the genetic architecture and mechanisms underlying North Carolina macular dystrophy, a cis-regulatory disease
(2020) -
Whole genome sequencing and 4C techniques provide novel insights into the genetic architecture and mechanisms underlying North Carolina macular dystrophy, a cis-regulatory disease
(2020) -
Interpreting the impact of noncoding structural variation in neurodevelopmental disorders
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Analysis of whole exome sequencing data with a panel of genes associated with intellectual disability and epilepsy in a diagnostic lab
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Non-invasive prenatal testing (NIPT) : how to handle secondary findings of maternal chromosomal abnormalities
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A novel neurodevelopmental syndrome caused by loss-of-function of the Zinc Finger Homeobox 3 gene (ZFHX3)
(2019)