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  1. No Access

    Article

    PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework

    Several molecular and phenotypic algorithms exist that establish genotype–phenotype correlations, including facial recognition tools. However, no unified framework that investigates both facial data and other ...

    Alexander J. M. Dingemans, Max Hinne, Kim M. G. Truijen, Lia Goltstein… in Nature Genetics (2023)

  2. Article

    Open Access

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

    CHD8, a major autism gene, functions in chromatin remodelling and has various roles involving several biological pathways. Therefore, unsurprisingly, previous studies have shown that intellectual developmental di...

    Alexander J. M. Dingemans, Kim M. G. Truijen, Sam van de Ven… in Translational Psychiatry (2022)

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