prof. dr. Bart Leroy
- Work address
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C. Heymanslaan 10, ingang 17 - verdieping 1
9000 Gent - Bart.Leroy@UGent.be
- ORCID iD
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0000-0002-9899-2081
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Exome-based panel testing as an efficient method to diagnose the highly heterogeneous ocular disorder spectrum Microphthalmia, Anophthalmia, Coloboma and Anterior Segment Dysgenesis (MAC-ASD)
(2020) -
The majority of autosomal recessive nanophthalmos and posterior microphthalmia can be attributed to biallelic sequence and structural variants in MFRP and PRSS56
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- Journal Article
- A1
- open access
Functional characterization of the first missense variant in CEP78, a founder allele associated with cone‐rod dystrophy, hearing loss and reduced male fertility
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- Journal Article
- A1
- open access
Functional characterization of novel MFSD8 pathogenic variants anticipates neurological involvement in juvenile isolated maculopathy
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Expanding the differential diagnosis of primary congenital glaucoma: molecular lessons learned from a large consanguineous family
(2019) -
Expanding the CPAMD8-associated eye disease spectrum to primary congenital glaucoma: lessons learned from a large consanguineous family with pseudodominance
(2019) -
- Journal Article
- A1
- open access
Long-term follow-up of retinal degenerations associated with LRAT mutations and their comparability to phenotypes associated with RPE65 mutations
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Expansion of the role and functional characterization of a missense variant in CEP78 associated with cone-rod dystrophy and hearing loss
(2019) -
Expansion of the role and functional characterization of a missense variant in CEP78 associated with cone-rod dystrophy and hearing loss
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Antisense oligonucleotide-based correction of deep-intronic ABCA4 splice mutations using patient-derived fibroblasts and photoreceptor precursor cells