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

European Journal of Human Genetics volume 31, pages 615–616 (2023)Cite this article

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References

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Funding

This viewpoint article received no specific grant from any funding agency in the public, commercial or not-for-profit sectors.

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Author notes

  1. These authors contributed equally: Saskia M. Maas, Izabela M. Krzyzewska.

Authors and Affiliations

  1. Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands

    Saskia M. Maas, Izabela M. Krzyzewska, Maria P. R. Lombardi, Marcel M. A. Mannens, Niels Vos & Jet Bliek

  2. European Reference Network for Rare Craniofacial Anomalies and ENT Disorders (ERN CRANIO), Amsterdam, The Netherlands

    Saskia M. Maas

Authors
  1. Saskia M. Maas
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  2. Izabela M. Krzyzewska
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  3. Maria P. R. Lombardi
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  4. Marcel M. A. Mannens
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  5. Niels Vos
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  6. Jet Bliek
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Contributions

SMM and IMK designed and wrote the manuscript; MPRL, NV, MMAM and JB were essential for the discussion on the topic of MGWpatUPD in BWSp and provided feedback on the manuscript.

Corresponding author

Correspondence to Jet Bliek.

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The authors declare no competing interests.

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Maas, S.M., Krzyzewska, I.M., Lombardi, M.P.R. et al. Should testing for mosaic genome-wide paternal uniparental disomy in Beckwith-Wiedemann spectrum (BWSp) be implemented in diagnostic testing?. Eur J Hum Genet 31, 615–616 (2023). https://doi.org/10.1038/s41431-023-01354-4

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  • DOI: https://doi.org/10.1038/s41431-023-01354-4

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