Associated Papers
Recessive genetic contribution to congenital heart disease in 5,424 probands.
Dong W et al.
Proceedings of the National Academy of Sciences of the United States of America, 2025
40030011 (PubMed )
Supplement: pnas.2419992122.sd02.xlsx › Dataset_S2_-_RGs
Targeting TRIP13 in favorable histology Wilms tumor with nuclear export inhibitors synergizes with doxorubicin.
Mittal K et al.
Communications Biology, 2024
38589567 (PubMed )
Supplement: 42003_2024_6140_MOESM1_ESM.pdf
The evolutionary impact of childhood cancer on the human gene pool.
Stoltze UK et al.
Nature Communications, 2024
38424437 (PubMed )
Supplement: 41467_2024_45975_MOESM4_ESM.xlsx › Supplementary_Data_11
Integrative genomic analysis of childhood acute lymphoblastic leukaemia lacking a genetic biomarker in the UKALL2003 clinical trial.
Schwab C et al.
Leukemia, 2023
36550215 (PubMed )
Supplement: 41375_2022_1799_MOESM1_ESM.pdf
Molecular profiling of male breast cancer by multigene panel testing: Implications for precision oncology.
Valentini V et al.
Frontiers in Oncology, 2022
36686738 (PubMed )
Supplement: Table_3.xlsx › Foglio1
Genomes for Kids: The Scope of Pathogenic Mutations in Pediatric Cancer Revealed by Comprehensive DNA and RNA Sequencing.
Newman S et al.
Cancer Discovery, 2021
34301788 (PubMed )
Supplement: cd-20-1631_supplementary_tables_suppst1.xlsx › S9._Germline_VUS
Two progressed malignant phyllodes tumors of the breast harbor alterations in genes frequently involved in other advanced cancers.
Reinisch M et al.
Orphanet Journal of Rare Diseases, 2021
Molecular profiling of soft-tissue sarcomas with FoundationOne® Heme identifies potential targets for sarcoma therapy: a single-centre experience.
Scheipl S et al.
Therapeutic Advances in Medical Oncology, 2021
34367342 (PubMed )
Supplement: sj-xlsx-1-tam-10.1177_17588359211029125.xlsx › FMI_Archer
Nationwide germline whole genome sequencing of 198 consecutive pediatric cancer patients reveals a high incidence of cancer prone syndromes.
Byrjalsen A et al.
Plos Genetics, 2020
33332384 (PubMed )
Supplement: pgen.1009231.s001.xlsx › VUS
Genetic factors contributing to autism spectrum disorder in Williams-Beuren syndrome.
Codina-Sola M et al.
Journal of Medical Genetics, 2019
31413120 (PubMed )
Supplement: jmedgenet-2019-106080supp001.pdf
Targeting HER2 in colorectal cancer: The landscape of amplification and short variant mutations in ERBB2 and ERBB3.
Ross JS et al.
Cancer, 2018
29338072 (PubMed )
Supplement: CNCR-124-1358-s002.xlsx › Colon
A recurrent germline PAX5 mutation confers susceptibility to pre-B cell acute lymphoblastic leukemia.
Shah S et al.
Nature Genetics, 2013
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