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

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

doi:10.1038/s41431-023-01354-4

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

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

^*Corresponding author for this work

Human genetics

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

Original language	English
Journal	European Journal of Human Genetics
Early online date	2023
DOIs	https://doi.org/10.1038/s41431-023-01354-4
Publication status	E-pub ahead of print - 2023

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10.1038/s41431-023-01354-4

Cite this

@article{c49130f6269e4b9eb67af7684b68266a,

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

author = "Maas, {Saskia M.} and Krzyzewska, {Izabela M.} and Lombardi, {Maria P. R.} and Mannens, {Marcel M. A.} and Niels Vos and Jet Bliek",

year = "2023",

doi = "10.1038/s41431-023-01354-4",