Associated Papers
Combining germline, tissue and liquid biopsy analysis by comprehensive genomic profiling to improve the yield of actionable variants in a real-world cancer cohort.
Vanni I et al.
Journal of Translational Medicine, 2024
38750555 (PubMed )
Supplement: 12967_2024_5227_MOESM15_ESM.xlsx › S15
The role of next-generation sequencing in the examination of signaling genes in Brca1/2-negative breast cancer cases.
Cine N et al.
Annals of Human Genetics, 2023
High prevalence of somatic PIK3CA and TP53 pathogenic variants in the normal mammary gland tissue of sporadic breast cancer patients revealed by duplex sequencing.
Kostecka A et al.
Npj Breast Cancer, 2022
35768433 (PubMed )
Supplement: 41523_2022_443_MOESM4_ESM.xlsx › Non_-_truncating_variants
Unexpected role of SIX1 variants in craniosynostosis: expanding the phenotype of SIX1-related disorders.
Calpena E et al.
Journal of Medical Genetics, 2022
33436522 (PubMed )
Supplement: jmedgenet-2020-107459supp001.pdf
Novel Loss-of-Function Mutations in NPR2 Cause Acromesomelic Dysplasia, Maroteaux Type.
Wu J et al.
Frontiers in Genetics, 2022
35368703 (PubMed )
Supplement: DataSheet1.zip › 823861_SupMaterial › Supplementary_Tables_and_Figures-0226.DOCX
Identifying therapeutic drug targets using bidirectional effect genes.
Estrada K et al.
Nature Communications, 2021
33850126 (PubMed )
Supplement: 41467_2021_21843_MOESM7_ESM.xlsx › Supplementary_Data_6
Comprehensive next-generation profiling of clonal hematopoiesis in cancer patients using paired tumor-blood sequencing for guiding personalized therapies.
Li Z et al.
Clinical and Translational Medicine, 2020
33252848 (PubMed )
Supplement: CTM2-10-e222-s003.xlsx › Sheet1
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