Research output

  1. Should testing for mosaic genome-wide paternal uniparental disomy in Beckwith-Wiedemann spectrum (BWSp) be implemented in diagnostic testing?

    Research output: Contribution to journal › Comment/Letter to the editor › Academic

  2. The phenotypic spectrum and genotype-phenotype correlations in 106 patients with variants in major autism gene CHD8

    Research output: Contribution to journal › Article › Academic › peer-review

  3. DNA Methylation Signature for JARID2-Neurodevelopmental Syndrome

    Research output: Contribution to journal › Article › Academic › peer-review

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ID: 71688