Accès ouvert
2026
preprint
OpenAlex
David Simon Ziegler, Ashleigh Sullivan, Dong-Anh Khuong-Quang, Anita Villani et autres
au, ca, in, sk, gb
(code pays fourni par la source)
Accès ouvert
2026
supplementary-materials
OpenAlex
Noemi Fuentes-Bolanos, Eliza Courtney, Chelsea Mayoh, Meera Warby et autres
Flowchart of the translation of GPV identified by PRISM research WGS into clinical care
Accès ouvert
2026
supplementary-materials
OpenAlex
Noemi Fuentes-Bolanos, Eliza Courtney, Chelsea Mayoh, Meera Warby et autres
Representativeness of Study Participants
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2026
supplementary-materials
OpenAlex
Noemi Fuentes-Bolanos, Eliza Courtney, Chelsea Mayoh, Meera Warby et autres
Penetrance category assigned to each cancer predisposition gene
Accès ouvert
2026
supplementary-materials
OpenAlex
Noemi Fuentes-Bolanos, Eliza Courtney, Chelsea Mayoh, Meera Warby et autres
Characteristics of the 131 individuals within the sarcoma group
Accès ouvert
2026
other
OpenAlex
Noemi Fuentes-Bolanos, Eliza Courtney, Chelsea Mayoh, Meera Warby et autres
AbstractPurpose: The role of germline predisposition in pediatric cancer is increasingly recognized. However, the optimal approach to identifying cancer predisposing germline pathogenic variants (GPV) in children, and even the prevalence of GPVs among children with cancer, remain unclear. We examined GPV prevalence …
Accès ouvert
2026
supplementary-materials
OpenAlex
Noemi Fuentes-Bolanos, Eliza Courtney, Chelsea Mayoh, Meera Warby et autres
Survey Instruments for Oncology and Genetics Clinicians
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2026
supplementary-materials
OpenAlex
Noemi Fuentes-Bolanos, Eliza Courtney, Chelsea Mayoh, Meera Warby et autres
Genes examined for germline pathogenic variants
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2026
supplementary-materials
OpenAlex
Noemi Fuentes-Bolanos, Eliza Courtney, Chelsea Mayoh, Meera Warby et autres
Patient and variant characteristics.
Accès ouvert
2026
supplementary-materials
OpenAlex
Noemi Fuentes-Bolanos, Eliza Courtney, Chelsea Mayoh, Meera Warby et autres
Case examples demonstrating the utility of tumour molecular features to inform germline WGS analysis and interpretation, leading to higher diagnostic yield
Accès ouvert
2026
supplementary-materials
OpenAlex
Noemi Fuentes-Bolanos, Eliza Courtney, Chelsea Mayoh, Meera Warby et autres
List of cancer predisposition genes included in variant burden testing
Accès ouvert
2026
supplementary-materials
OpenAlex
Noemi Fuentes-Bolanos, Eliza Courtney, Chelsea Mayoh, Meera Warby et autres
Study CONSORT Diagram