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Author

S. E. Boonen

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Sep 2026

Phenotypic manifestations and variant reclassification of germline PTEN variants: a nationwide Danish study.

The authors identified 87 different PTEN variants, and application of PTEN gene-specific ACMG guidelines led to reclassification of 32 variants, underscoring the importance of regular variant reassessment using the most recent gene-specific guidelines, ensuring optimal patient management and surveillance.

Annette Lyngholm Sandsdalen, A. M. Jelsig, B. Bertelsen et al. · 0 citations
Review Open access Sep 2026

Variants in the Imprinted IGF2 Gene: A Review and Phasing of De Novo Variants Using Long-Read Sequencing.

It is demonstrated that long-read sequencing can determine the allelic origin of de novo IGF2 variants using differentially methylated regions, eliminating the need for parental samples, and confirms long-read sequencing as a powerful tool for identifying de novo variant origins in imprinted genes like IGF2.

T. Juul, S. E. Boonen, K. V. Pedersen et al. · 0 citations

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