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

European Reference Network for Rare Craniofacial Anomalies and ENT Disorders (ERN CRANIO)
University of Amsterdam

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

Original language	English
Pages (from-to)	615-616
Number of pages	2
Journal	European journal of human genetics
Volume	31
Issue number	6
Early online date	2023
DOIs	https://doi.org/10.1038/s41431-023-01354-4
Publication status	Published - Jun 2023

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10.1038/s41431-023-01354-4

Cite this

@article{fa1df10c54cb4d41a5c36cb5f3f908fc,

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",

month = jun,

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

language = "English",

volume = "31",

pages = "615--616",

journal = "European journal of human genetics",

issn = "1018-4813",

publisher = "Nature Publishing Group",

number = "6",

}

Should testing for mosaic genome-wide paternal uniparental disomy in Beckwith-Wiedemann spectrum (BWSp) be implemented in diagnostic testing? / Maas, Saskia M.; Krzyzewska, Izabela M.; Lombardi, Maria P. R. et al.
In: European journal of human genetics, Vol. 31, No. 6, 06.2023, p. 615-616.

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