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
- CARD9 p.R70W, a Turkish founder mutation associated with mucosal and invasive fungal infections, disrupts downstream NF-κB signaling by inhibiting Bcl10 recruitment
- A CARD9 Turkisch founder mutation disrupts NF-κB signaling by inhibiting Bcl10 recruitment
- CARD9 p.R70W, a Turkish founder mutation associated with mucosal and invasive fungal infections, disrupts downstream NF-κB signaling by inhibiting Bcl10 recruitment
- CARD9 p.R70W, a Turkish founder mutation associated with mucosal and invasive fungal infections, disrupts downstream NF-κB signaling by inhibiting Bcl10 recruitment
- A CARD9 founder mutation p.Arg70Trp in Belgian and French patients of Turkish origin with a spectrum of chronic mucocutaneous and invasive fungal infections
- Functional characterization of a novel non-coding mutation 'Ghent +49A>G' in the iron-responsive element of L-ferritin causing hereditary hyperferritinaemia-cataract syndrome
- CNGB3 mutation spectrum including copy number variations in 552 achromatopsia patients
- Early-onset primary antibody deficiency resembling common variable immunodeficiency challenges the diagnosis of Wiedeman-Steiner and Roifman syndromes
- 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
- A next-generation sequencing approach targeting the highly repetitive ORF15 region of RPGR improves molecular diagnostics of X-linked retinitis pigmentosa
- 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
- NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development
- 2016
- Recessive RHO mutation E150K and SAMD7 regulatory variants in a consanguineous family with retinitis pigmentosa
- Coding and non-coding copy number variations explaining unsolved retinal dystrophies: role of genomic architectural features and underlying mechanisms
- Recessive RHO mutation E150K and SAMD7 regulatory variants in a consanguineous family with retinitis pigmentosa
- Hidden genetic variation in retinal dystrophies – exploring the contribution of copy number variations
- Coding and non-coding copy number variations explaining unsolved retinal dystrophies: role of genomic architectural features and underlying mechanisms
- Coding and non-coding copy number variations explaining unsolved retinal dystrophies: role of genomic architectural features and underlying mechanisms
- Coding and non-coding copy number variations explaining unsolved retinal dystrophies: role of genomic architectural features and underlying mechanisms
- Disruption of a remote putative novel enhancer in the cis-regulatory domain of FOXL2 in a multigenerational Polynesian family with BPES
- Disruption of a remote putative novel enhancer in the cis-regulatory domain of FOXL2 in a multigenerational Polynesian family with BPES
- 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
- Molecular study of the MFRP gene in patients with posterior microphthalmia (MCOP) supports its role in autosomal recessive MCOP pathogenesis
- Molecular study of the MFRP gene in patients with posterior microphthalmia (MCOP) supports its role in autosomal recessive MCOP pathogenesis
- Molecular study of the MFRP gene in patients with posterior microphthalmia (MCOP) supports its role in autosomal recessive MCOP pathogenesis
- Molecular study of the MFRP gene in patients with posterior microphthalmia (MCOP) supports its role in autosomal recessive MCOP pathogenesis
- Coding and non-coding copy number variations explaining unsolved retinal dystrophies: role of genomic architectural features and underlying mechanisms
- Genes associated with common variable immunodeficiency: one diagnosis to rule them all?
- Biallelic mutations in GNB3 cause a unique form of autosomal-recessive congenital stationary night blindness
- A restricted repertoire of de novo mutations in ITPR1 cause Gillespie syndrome with evidence for dominant-negative effect
- Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins
- De novo intrachromosomal gene conversion from OPN1MW to OPN1LW in the male germline results in Blue Cone Monochromacy
- Persistent rotavirus diarrhea post-transplant in a novel JAK3-SCID patient after vaccination
- Visual prognosis in USH2A-associated retinitis pigmentosa is worse for patients with Usher syndrome type IIa than for those with nonsyndromic retinitis pigmentosa
- Autosomal recessive retinitis pigmentosa with homozygous rhodopsin mutation E150K and non-coding cis-regulatory variants in CRX-binding regions of SAMD7
- Mutations in CTNNA1 cause butterfly-shaped pigment dystrophy and perturbed retinal pigment epithelium integrity
- 2015
- Homozygous deletion of glutamate receptor gene GRID2 causes early-onset cerebellar ataxia and retinal dystrophy
- Recessive RHO mutation E150K and SAMD7 regulatory variants in a consanguineous family with retinitis pigmentosa
- Homozygous deletion of glutamate receptor gene GRID2 causes early-onset cerebellar ataxia and retinal dystrophy
- Recessive RHO mutation E150K and SAMD7 regulatory variants in a consanguineous family with retinitis pigmentosa
- Recessive RHO mutation E150K and SAMD7 regulatory variants in a consanguineous family with retinitis pigmentosa
- Recessive RHO mutation E150K and SAMD7 regulatory variants in a consanguineous family with retinitis pigmentosa
- Profiling of upstream enhancers and chromatin conformation of the SHOX CIS-regulatory landscape.
- Profiling of upstream enhancers and chromatin conformation of the SHOX CIS-regulatory landscape.
- Blepharophimosis, ptosis, and epicanthus inversus
- Colour vision in Stargardt disease
- Novel FRMD7 mutations and genomic rearrangement expand the molecular pathogenesis of X-linked idiopathic infantile nystagmus
- Novel FRMD7 mutations and genomic rearrangement expand the molecular pathogenesis of X-linked idiopathic infantile nystagmus
- SF3B2, a novel candidate gene for autosomal dominant retinitis pigmentosa, encodes a component of the U2 small nuclear ribonucleoprotein
- SF3B2, a novel candidate gene for autosomal dominant retinitis pigmentosa, encodes a component of the U2 small nuclear ribonucleoprotein
- SF3B2, a novel candidate gene for autosomal dominant retinitis pigmentosa, encodes a component of the U2 small nuclear ribonucleoprotein
- SF3B2, a novel candidate gene for autosomal dominant retinitis pigmentosa, encodes a component of the U2 small nuclear ribonucleoprotein
- A nonsense mutation in FAM161A is a recurrent founder allele in Dutch and Belgian individuals with autosomal recessive retinitis pigmentosa
- Disease expression in autosomal recessive retinal dystrophy associated with mutations in the DRAM2 gene
- Calcium and bone homeostasis in heterozygous carrier's of CYP24A1 mutations: a cross-sectional study
- Profiling of conserved non-coding elements upstream of SHOX and functional characterisation of the SHOX cis-regulatory landscape
- Hidden genetic variation in LCA9-associated congenital blindness explained by 5′UTR mutations and copy-number variations of NMNAT1
- Mother and daughter became father and son: a case report
- Flexible, scalable, and efficient targeted resequencing on a benchtop sequencer for variant detection in clinical practice
- Novel insights into the molecular pathogenesis of CYP4V2-associated Bietti's retinal dystrophy
- Biallelic mutations in the autophagy regulator DRAM2 cause retinal dystrophy with early macular involvement
- Submicroscopic deletions at 13q32.1 cause congenital microcoria
- Novel FRMD7 mutations and genomic rearrangement expand the molecular pathogenesis of X-linked idiopathic infantile nystagmus
- An augmented ABCA4 screen targeting noncoding regions reveals a deep intronic founder variant in Belgian Stargardt patients
- Early-onset autosomal recessive cerebellar ataxia associated with retinal dystrophy: new human hotfoot phenotype caused by homozygous GRID2 deletion
- 2014
- Exploring the role of a novel disease gene EML4 in autosomal recessive retinitis pigmentosa
- Homozygous deletion of glutamate receptor gene GRID2 causes early-onset cerebellar ataxia and retinal dystrophy
- Homozygous deletion of glutamate receptor gene GRID2 causes early-onset cerebellar ataxia and retinal dystrophy
- Homozygous deletion of glutamate receptor gene GRID2 causes early-onset cerebellar ataxia and retinal dystrophy
- Homozygous deletion of glutamate receptor gene GRID2 causes early-onset cerebellar ataxia and retinal dystrophy
- Study of the regulatory landscape of SHOX in 503 LWD and ISS cases uncovers a key role of the upstream cis-regulatory element CNE-3
- Clinical presentation of hyper-IgE syndrome in a family with impaired IL-22 production and STAT3 phosphorylation
- Novel and known FRMD7 mutations and copy number variation in Belgian patients with X-linked idiopathic infantile nystagmus
- Novel and known FRMD7 mutations and copy number variation in Belgian patients with X-linked idiopathic infantile nystagmus
- Novel and known FRMD7 mutations and copy number variation in Belgian patients with X-linked idiopathic infantile nystagmus
- De novo MECP2 duplications in two females with intellectual disability and unfavorable complete skewed X-inactivation
- Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophy
- Deciphering the cis-regulatory landscape of SOX9 implicated in craniofacial development and isolated Pierre Robin sequence
- A missense mutation in the splicing factor gene DHX38 is associated with early-onset retinitis pigmentosa with macular coloboma
- Heterozygous coding ZNF469 variants enriched in New Zealand patients with isolated keratoconus
- Co-occurrence of congenital hydronephrosis and FOXL2-associated blepharophimosis, ptosis, epicanthus inversus syndrome (BPES)
- Extensive clinical, hormonal and genetic screening in a large consecutive series of 46, XY neonates and infants with atypical sexual development
- Identity-by-descent-guided mutation analysis and exome sequencing in consanguineous families reveals unusual clinical and molecular findings in retinal dystrophy