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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Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides
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ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants
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- journalArticle
- open access
A Variety of Alu-Mediated Copy Number Variations Can Underlie IL-12Rβ1 Deficiency
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Incidental or secondary findings: an integrative and patient-inclusive approach to the current debate
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CRISPR/Cas9 mediated knockout of rcbtb1 in Xenopus tropicalis to model RCBTB1-associated retinal disease
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CRISPR/Cas9 mediated knockout of rcbtb1 in Xenopus tropicalis to model RCBTB1-associated retinal disease.
(2018) -
- journalArticle
- open access
Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease
(2018) Genet. Med.. -
Coding and non-coding structural variants of ABCA4 contribute to the missing heritability in Stargardt disease, a prevalent inherited retinal disease
(2018) -
Biallelic loss-of-function variants in RAX2, encoding a homeobox-containing Rax transcription factor, cause autosomal recessive inherited retinal disease
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Antisense oligonucleotide-based correction of deep-intronic ABCA4 splice mutations using patient-derived fibroblasts and photoreceptor precursor cells
(2018)