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A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophyA novel protein LZTFL1 regulates ciliary trafficking of the BBSome and SmoothenedA family with Axenfeld-Rieger syndrome and Peters Anomaly caused by a point mutation (Phe112Ser) in the FOXC1 geneBardet-Biedl syndrome 3 (Bbs3) knockout mouse model reveals common BBS-associated phenotypes and Bbs3 unique phenotypesBardet-Biedl syndrome genes are important in retrograde intracellular trafficking and Kupffer's vesicle cilia functionCalpain-5 mutations cause autoimmune uveitis, retinal neovascularization, and photoreceptor degenerationBBS proteins interact genetically with the IFT pathway to influence SHH-related phenotypesDiscovery and functional analysis of a retinitis pigmentosa gene, C2ORF71A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesisBBS mutations modify phenotypic expression of CEP290-related ciliopathiesRequirement of Bardet-Biedl syndrome proteins for leptin receptor signalingLoss of Bardet-Biedl syndrome proteins alters the morphology and function of motile cilia in airway epitheliaThe centriolar satellite protein AZI1 interacts with BBS4 and regulates ciliary trafficking of the BBSomeThe nuclear receptor NR2E3 plays a role in human retinal photoreceptor differentiation and degenerationComparative genomic analysis identifies an ADP-ribosylation factor-like gene as the cause of Bardet-Biedl syndrome (BBS3)Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11)Functional impact of global rare copy number variation in autism spectrum disordersPax6 3' deletion results in aniridia, autism and mental retardationMapping autism risk loci using genetic linkage and chromosomal rearrangements.Ectopic expression of human BBS4 can rescue Bardet-Biedl syndrome phenotypes in Bbs4 null miceEvaluation of optineurin sequence variations in 1,048 patients with open-angle glaucomaAllelic variants of human melatonin 1A receptor in patients with familial adolescent idiopathic scoliosisGenetic analysis of PITX2 and FOXC1 in Rieger Syndrome patients from BrazilEvaluation of the chromosome 2q37.3 gene CENTG2 as an autism susceptibility geneDe novo mutations in the CRX homeobox gene associated with Leber congenital amaurosisLinkage of autosomal dominant radial drusen (malattia leventinese) to chromosome 2p16-21Development of a screening set for new (CAG/CTG)n dynamic mutationsUse of a DNA pooling strategy to identify a human obesity syndrome locus on chromosome 15Mkks-null mice have a phenotype resembling Bardet-Biedl syndromeCalmodulin Methyltransferase Is Required for Growth, Muscle Strength, Somatosensory Development and Brain FunctionCartilage abnormalities associated with defects of chondrocytic primary cilia in Bardet-Biedl syndrome mutant mice.Ciliopathy is differentially distributed in the brain of a Bardet-Biedl syndrome mouse modelContrasting vascular effects caused by loss of Bardet-Biedl syndrome genes.Primary ciliary dyskinesia caused by homozygous mutation in DNAL1, encoding dynein light chain 1.The N-terminal region of centrosomal protein 290 (CEP290) restores vision in a zebrafish model of human blindness.An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.Functional characterization of Prickle2 and BBS7 identify overlapping phenotypes yet distinct mechanisms.High-throughput gene discovery in the rat.A mouse model of osteochondromagenesis from clonal inactivation of Ext1 in chondrocytes.Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate.
P50
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P50
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onderzoeker
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researcher ORCID ID = 0000-0002-6282-0835
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Val C Sheffield
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Val C Sheffield
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Val C Sheffield
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Val C Sheffield
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Val C Sheffield
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Val C Sheffield
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Val C Sheffield
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Val C Sheffield
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Val C Sheffield
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0000-0002-6282-0835