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Author

D. Vidaud

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Oct 2026

Clinically actionable genetic findings by exome sequencing performed for therapeutic purposes in children with very-high risk cancer included the MAPPYACTS study.

INTRODUCTION Next-generation sequencing performed for therapeutic decision-making in pediatric cancers provides an opportunity to identify germline variants associated with hereditary cancer predisposition and other actionable inherited conditions. METHODS Germline whole-exome sequencing (WES) was performed within th...

Tiphaine Adam-de-Beaumais, Yahia Adnani, L. Guerrini-Rousseau et al. · 0 citations
Open access Aug 2026

Cherry Angiomas in Individuals With Neurofibromatosis Type 1.

The results of this cross-sectional study suggest that CAs represent a frequent and previously unrecognized vascular manifestation of NF1, which is supported by epidemiological enrichment and mechanistic evidence of biallelic NF1 inactivation in vascular cells.

L. Fertitta, É. Pasmant, C. Bergqvist et al. · 0 citations

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