prof. dr. Elfride De Baere
work address
C. Heymanslaan 10, ingang 34 (MRB)
9000 Gent
9000 Gent
ORCID iD
https://orcid.org/0000-0002-5609-6895
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- 2018
- Exome-based RetNet panel analysis in a Belgian cohort with inherited retinal disease (IRD) expands the molecular and phenotypic spectrum of recently identified IRD genes
- Exome-based RetNet panel analysis in a Belgian cohort with inherited retinal disease expands the molecular and phenotypic spectrum of recently identified iRD genes
- Leveraging consanguinity in inherited retinal diseases uncovers missing genetic variation: rare novel disease genes and a multitude of novel variants in known disease genes
- Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations
- 2017
- Novel non-coding homozygous mutation “Ghent +49A>G” in the iron-responsive element of L-ferritin causes hereditary hyperferritinaemia-cataract syndrome
- Novel non-coding homozygous mutation “Ghent +49A>G” in the iron-responsive element of L-ferritin causes hereditary hyperferritinaemia-cataract syndrome
- Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations
- Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations
- Leveraging consanguinity in inherited retinal diseases uncovers missing genetic variation : rare novel disease genes and a multitude of novel variants in known disease genes
- Disruption of a remote putative novel enhancer in the cis-regulatory domain of FOXL2 in a multigenerational Polynesian family with BPES