Wouter Steyaert
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IRF2BPL is associated with neurological phenotypes
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Delineation of a clinical scoring system and diagnostic criteria for CCA
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BATCH-GE : analysis of NGS data for genome editing assessment
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- Journal Article
- A1
- open access
CRISPR/Cas9-mediated homology-directed repair by ssODNs in zebrafish induces complex mutational patterns resulting from genomic integration of repair-template fragments
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- Journal Article
- A1
- open access
Tailoring the American College of Medical Genetics and Genomics and the Association for Molecular Pathology guidelines for the interpretation of sequenced variants in the FBN1 gene for Marfan syndrome : proposal for a disease- and gene-specific guideline
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Future perspectives of genome-scale sequencing
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Tissue-specific mosaicism for a lethal osteogenesis imperfecta COL1A1 mutation causes mild OI/EDS overlap syndrome
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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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Congenital contractural arachnodactyly : delineation of clinical criteria
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Myhre syndrome : broadening the phenotypic spectrum