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- Journal Article
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Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes
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- Journal Article
- open access
Multi-omics analysis in human retina uncovers ultraconserved <i>cis</i>-regulatory elements at rare eye disease loci
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- Journal Article
- A1
- open access
The role of MCM9 in the etiology of Sertoli cell-only syndrome and premature ovarian insufficiency
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- Journal Article
- A2
- open access
The natural history of leber congenital amaurosis and cone–rod dystrophy associated with variants in the GUCY2D gene
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- Journal Article
- A1
- open access
New variants and in silico analyses in GRK1 associated Oguchi disease
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Longitudinal phenotypic study of late-onset retinal degeneration due to a founder variant c.562C > A p.(Pro188Thr) in the C1QTNF5 gene
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- Journal Article
- A1
- open access
Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics
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A variety of Alu-mediated copy number variations can underlie IL-12Rβ1 deficiency
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- Journal Article
- A1
- open access
Early-onset primary antibody deficiency resembling common variable immunodeficiency challenges the diagnosis of Wiedeman-Steiner and Roifman syndromes
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An augmented ABCA4 screen targeting noncoding regions reveals a deep intronic founder variant in Belgian Stargardt patients
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Calcium and bone homeostasis in heterozygous carrier's of CYP24A1 mutations: a cross-sectional study
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De novo MECP2 duplications in two females with intellectual disability and unfavorable complete skewed X-inactivation
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Clinical course, genetic etiology, and visual outcome in cone and cone-rod dystrophy
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Clinical utility gene card for: Axenfeld-Rieger syndrome
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A novel mutation c.118delA in exon 1 of the androgen receptor gene resulting in complete androgen insensitivity syndrome within a large family
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A structured simple form for ordering genetic tests is needed to ensure coupling of clinical detail (phenotype) with DNA variants (genotype) to ensure utility in publication and databases