prof. dr. Elfride De Baere
- Work address
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C. Heymanslaan 10, ingang 34 (MRB)
9000 Gent - Elfride.DeBaere@UGent.be
- ORCID iD
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https://orcid.org/0000-0002-5609-6895
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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
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Exome-based RetNet panel analysis in a Belgian cohort with inherited retinal disease expands the molecular and phenotypic spectrum of recently identified iRD genes
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Leveraging consanguinity in inherited retinal diseases uncovers missing genetic variation : rare novel disease genes and a multitude of novel variants in known disease genes
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- journalArticle
- A1
- open access
Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations
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Novel non-coding homozygous mutation 'Ghent +49A>G' in the iron-responsive element of L-ferritin causes hereditary hyperferritinaemia-cataract syndrome
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Novel non-coding homozygous mutation 'Ghent +49A>G' in the iron-responsive element of L-ferritin causes hereditary hyperferritinaemia-cataract syndrome
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Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations
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Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations
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Leveraging consanguinity in inherited retinal diseases uncovers missing genetic variation : rare novel disease genes and a multitude of novel variants in known disease genes
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Disruption of a remote putative novel enhancer in the cis-regulatory domain of FOXL2 in a multigenerational Polynesian family with BPES