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within Science, multidisciplinary Remove this filter Jayne Y. Hehir-Kwa Remove this filter Article Remove this filter

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  1. Article

    Open Access

    A high-quality human reference panel reveals the complexity and distribution of genomic structural variants

    Structural variation (SV) represents a major source of differences between individual human genomes and has been linked to disease phenotypes. However, the majority of studies provide neither a global view of ...

    Jayne Y. Hehir-Kwa, Tobias Marschall, Wigard P. Kloosterman… in Nature Communications (2016)

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    Article

    Genome sequencing identifies major causes of severe intellectual disability

    Whole-genome sequencing is used to identify genetic alterations in patients with severe intellectual disability for whom all other tests, including array and exome sequencing, returned negative results; de novo s...

    Christian Gilissen, Jayne Y. Hehir-Kwa, Djie Tjwan Thung, Maartje van de Vorst… in Nature (2014)