Author

S. E. Boonen

2 papers indexed here

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Sep 2026

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

BACKGROUND Classification of heterozygous germline PTEN variants in patients with, or suspected of having, PTEN hamartoma tumour syndrome (PHTS) remains challenging. Accurate classification is essential as these patients require lifelong cancer surveillance. METHODS We identified all patients with a PTEN variant prev...

Annette Lyngholm Sandsdalen, A. M. Jelsig, B. Bertelsen et al. · Journal of Medical Genetics · 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.

Pathogenic variants on the paternal allele of IGF2 are linked to Silver-Russell syndrome (SRS). This report describes two unrelated individuals-a 5-year-old girl and an adult female-with de novo IGF2 missense variants, both diagnosed with SRS. While one exhibited normal development, the other had intellectual disabilit...

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