- ORCID iD
- 0000-0001-5299-8851
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- Journal Article
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- open access
Loss of function of RIMS2 causes a syndromic congenital cone-rod synaptic disease with neurodevelopmental and pancreatic involvement
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- Journal Article
- A1
- open access
Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease
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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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Biallelic loss-of-function variants in RAX2, encoding a homeobox-containing Rax transcription factor, cause autosomal recessive inherited retinal disease
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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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- Journal Article
- 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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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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- Journal Article
- A1
- open access
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
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Homozygosity mapping-guided exome sequencing in LCA patients of consanguineous origin reveals mutations in known genes and a novel candidate gene
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NXT-EYE : integrative strategy to elucidate hidden genetic variation in inherited retinal diseases
(2017) -
Homozygosity mapping-guided exome sequencing in LCA patients of consanguineous origin reveals mutations in known genes and a novel candidate gene
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Recessive RHO mutation E150K and SAMD7 regulatory variants in a consanguineous family with retinitis pigmentosa
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Recessive RHO mutation E150K and SAMD7 regulatory variants in a consanguineous family with retinitis pigmentosa
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Hidden genetic variation in retinal dystrophies : exploring the contribution of copy number variations
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Coding and non-coding copy number variations explaining unsolved retinal dystrophies : role of genomic architectural features and underlying mechanisms
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Coding and non-coding copy number variations explaining unsolved retinal dystrophies : role of genomic architectural features and underlying mechanisms
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Coding and non-coding copy number variations explaining unsolved retinal dystrophies : role of genomic architectural features and underlying mechanisms
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JAK2 deficiency as a novel cause of impaired Th17 immunity
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Coding and non-coding copy number variations explaining unsolved retinal dystrophies : role of genomic architectural features and underlying mechanisms
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Persistent rotavirus diarrhea post-transplant in a novel JAK3-SCID patient after vaccination
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- Journal Article
- A1
- open access
Autosomal recessive retinitis pigmentosa with homozygous rhodopsin mutation E150K and non-coding cis-regulatory variants in CRX-binding regions of SAMD7
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A novel Janus kinase 3 (JAK3) mutation in a patient with severe combined immunodeficiency
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Homozygous deletion of glutamate receptor gene GRID2 causes early-onset cerebellar ataxia and retinal dystrophy
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Recessive RHO mutation E150K and SAMD7 regulatory variants in a consanguineous family with retinitis pigmentosa
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Homozygous deletion of glutamate receptor gene GRID2 causes early-onset cerebellar ataxia and retinal dystrophy
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Recessive RHO mutation E150K and SAMD7 regulatory variants in a consanguineous family with retinitis pigmentosa
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Recessive RHO mutation E150K and SAMD7 regulatory variants in a consanguineous family with retinitis pigmentosa
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Recessive RHO mutation E150K and SAMD7 regulatory variants in a consanguineous family with retinitis pigmentosa
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A nonsense mutation in FAM161A is a recurrent founder allele in Dutch and Belgian individuals with autosomal recessive retinitis pigmentosa
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Disease expression in autosomal recessive retinal dystrophy associated with mutations in the DRAM2 gene
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Biallelic mutations in the autophagy regulator DRAM2 cause retinal dystrophy with early macular involvement
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Early-onset autosomal recessive cerebellar ataxia associated with retinal dystrophy: new human hotfoot phenotype caused by homozygous GRID2 deletion
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Exploring the role of a novel disease gene EML4 in autosomal recessive retinitis pigmentosa
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Homozygous deletion of glutamate receptor gene GRID2 causes early-onset cerebellar ataxia and retinal dystrophy
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Homozygous deletion of glutamate receptor gene GRID2 causes early-onset cerebellar ataxia and retinal dystrophy
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Homozygous deletion of glutamate receptor gene GRID2 causes new hotfoot mutant phenotype, characterized by early-onset cerebellar ataxia and retinal dystrophy
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Homozygous deletion of glutamate receptor gene GRID2 causes new human hotfoot mutant phenotype, characterized by early-onset cerebellar ataxia and retinal dystrophy
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Clinical presentation of hyper-IgE syndrome in a family with impaired IL-22 production and STAT3 phosphorylation
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Identity-by-descent-guided mutation analysis and exome sequencing in consanguineous families reveals unusual clinical and molecular findings in retinal dystrophy
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Identification of novel homozygous deletions in consanguineous pedigrees as a shortcut to candidate gene discovery in retinal dystrophies
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Identification of novel homozygous deletions in consanguineous pedigrees as a shortcut to candidate gene discovery in retinal dystrophies
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Identification of novel homozygous deletions in consanguineous pedigrees as a shortcut to candidate gene discovery in retinal dystrophies
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Identification of novel homozygous deletions in consanguineous pedigrees as a shortcut to candidate gene discovery in hereditary blindness
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Exploring the role of a novel disease gene RERG in early-onset retinal dystrophy and related conditions
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Identification de gènes candidats pour des dystrophies rétiniennes par des délétions homozygotes