prof. dr. Elfride De Baere
work address
De Pintelaan 185, ingang 34 (MRB)
9000 Gent
9000 Gent
ORCID iD
0000-0002-5609-68951 – 10 of 162
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- 2017
- arrEYE: a customized platform for high-resolution copy number analysis of coding and noncoding regions of known and candidate retinal dystrophy genes and retinal noncoding RNAs
- Homozygosity mapping-guided exome sequencing in LCA patients of consanguineous origin reveals mutations in known genes and a novel candidate gene
- Mutations in splicing factor genes are a major cause of autosomal dominant retinitis pigmentosa in Belgian families
- Homozygosity mapping-guided exome sequencing in LCA patients of consanguineous origin reveals mutations in known genes and a novel candidate gene
- Non-coding variation in disorders of sex development
- 2016
- JAK2 deficiency as a novel cause of impaired Th17 immunity
- The immunophenotypical landscape of patients with primary antibody deficiencies and their asymptomatic first-degree relatives : arguments for a multifactorial aetiology
- Recurrent cutaneous abscesses as the presenting manifestation of STAT1 gain-of-function mutation
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Familial Mediterranean fever mutations lift the obligatory requirement for microtubules in Pyrin inflammasome activation
(2016) PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA. 113(50). p.14384-14389 Mark
- Isolated and syndromic retinal dystrophy caused by biallelic mutations in RCBTB1, a gene implicated in ubiquitination