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Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindnessHDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycleBiallelic mutations in the autophagy regulator DRAM2 cause retinal dystrophy with early macular involvementFOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlationGenome-wide association study of systemic sclerosis identifies CD247 as a new susceptibility locusRecurrent mutation in the first zinc finger of the orphan nuclear receptor NR2E3 causes autosomal dominant retinitis pigmentosaA novel mutation c.118delA in exon 1 of the androgen receptor gene resulting in complete androgen insensitivity syndrome within a large familyAge-dependent effects of RPE65 gene therapy for Leber's congenital amaurosis: a phase 1 dose-escalation trialIsolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1, a Gene Implicated in UbiquitinationNR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex developmentIdentification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genome-wide association strategyDisease-causing 7.4 kb cis-regulatory deletion disrupting conserved non-coding sequences and their interaction with the FOXL2 promotor: implications for mutation screening.Functional exploration of the adult ovarian granulosa cell tumor-associated somatic FOXL2 mutation p.Cys134Trp (c.402C>G).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.Early-onset primary antibody deficiency resembling common variable immunodeficiency challenges the diagnosis of Wiedeman-Steiner and Roifman syndromes.Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veinsHomozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders.Structural and numerical changes of chromosome X in patients with esophageal atresiaFOXL2 impairment in human disease.Novel insights into the molecular pathogenesis of CYP4V2-associated Bietti's retinal dystrophy.TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness.Screening of a large cohort of leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlationsNonsyndromic bilateral and unilateral optic nerve aplasia: first familial occurrence and potential implication of CYP26A1 and CYP26C1 genes.Submicroscopic deletions at 13q32.1 cause congenital microcoria.Flexible, scalable, and efficient targeted resequencing on a benchtop sequencer for variant detection in clinical practice.Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation.TMEM126A mutation in a Moroccan family with autosomal recessive optic atrophy.Foxl2 gene and the development of the ovary: a story about goat, mouse, fish and woman.Mutations in Splicing Factor Genes Are a Major Cause of Autosomal Dominant Retinitis Pigmentosa in Belgian FamiliesPremature ovarian failure and forkhead transcription factor FOXL2: blepharophimosis-ptosis-epicanthus inversus syndrome and ovarian dysfunction.Profiling of conserved non-coding elements upstream of SHOX and functional characterisation of the SHOX cis-regulatory landscape.A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsia.Autosomal recessive retinitis pigmentosa with homozygous rhodopsin mutation E150K and non-coding cis-regulatory variants in CRX-binding regions of SAMD7Mutations in CTNNA1 cause butterfly-shaped pigment dystrophy and perturbed retinal pigment epithelium integrityA Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect.Development of a genotyping microarray for Usher syndromeDe novo intrachromosomal gene conversion from OPN1MW to OPN1LW in the male germline results in Blue Cone MonochromacyMutations in IMPG1 cause vitelliform macular dystrophies.Hidden Genetic Variation in LCA9-Associated Congenital Blindness Explained by 5'UTR Mutations and Copy-Number Variations of NMNAT1.Familial Mediterranean fever mutations lift the obligatory requirement for microtubules in Pyrin inflammasome activation.
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wetenschapper
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Elfride De Baere
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Elfride De Baere
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Elfride De Baere
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Elfride De Baere
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Elfride De Baere
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Elfride De Baere
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Elfride De Baere
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Elfride De Baere
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P106
P31
P496
0000-0002-5609-6895