Associated Papers
Genomic profiling in hepatocellular carcinoma: a real-world retrospective analysis.
Salani F et al.
Esmo Open, 2025
41167083 (PubMed )
Supplement: mmc4.xlsx › Table_S10B
Homologous recombination repair status in metastatic prostate cancer by next-generation sequencing and functional immunofluorescence.
Arce-Gallego S et al.
Cell Reports. Medicine, 2025
39914385 (PubMed )
Supplement: mmc1.pdf
Case Report: Eltrombopag in mosaic and gene therapy-treated patients with Fanconi anemia.
Zubicaray J et al.
Frontiers in Pediatrics, 2025
Concordance between cancer gene alterations in tumor and circulating tumor DNA correlates with poor survival in a real-world precision-medicine population.
Rosenberg S et al.
Molecular Oncology, 2023
36694946 (PubMed )
Supplement: MOL2-17-1844-s003.xlsx › 2b._All_genes
Prevalence and clinical expression of germ line predisposition to myeloid neoplasms in adults with marrow hypocellularity.
Molteni E et al.
Blood, 2023
Clinical genomic profiling in the management of patients with soft tissue and bone sarcoma.
Gounder MM et al.
Nature Communications, 2022
35705558 (PubMed )
Supplement: 41467_2022_30496_MOESM2_ESM.xls › variants_table_final_for_supple
Population-based targeted sequencing of 54 candidate genes identifies PALB2 as a susceptibility gene for high-grade serous ovarian cancer.
Song H et al.
Journal of Medical Genetics, 2021
32546565 (PubMed )
Supplement: jmedgenet-2019-106739supp001.xlsx › Supp._Table_3
Assessment of Clinical Benefit of Integrative Genomic Profiling in Advanced Solid Tumors.
Cobain EF et al.
Jama Oncology, 2021
33630025 (PubMed )
Supplement: jamaoncol-e207987-s006.xlsx › Sheet2
Next-generation Sequencing in Bone Marrow Failure Syndromes and Isolated Cytopenias: Experience of the Spanish Network on Bone Marrow Failure Syndromes.
Gálvez E et al.
Hemasphere, 2021
33718801 (PubMed )
Supplement: hs9-5-e539-s001.docx
Spectrum of Germline Mutations Within Fanconi Anemia-Associated Genes Across Populations of Varying Ancestry.
Chan SH et al.
Jnci Cancer Spectrum, 2021
Fanconi anemia A protein participates in nucleolar homeostasis maintenance and ribosome biogenesis.
Gueiderikh A et al.
Science Advances, 2021
33523834 (PubMed )
Supplement: abb5414_SM.pdf
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
31589614 (PubMed )
Supplement: pgen.1008409.s001.xlsx › P_LP_Variants
Integrative clinical genomics of metastatic cancer.
Robinson DR et al.
Nature, 2017
28783718 (PubMed )
Supplement: NIHMS888166-supplement-Supplementary_Tables.pdf
Patterns and functional implications of rare germline variants across 12 cancer types.
Lu C et al.
Nature Communications, 2015
26689913 (PubMed )
Supplement: ncomms10086-s11.xlsx › supplementary_data_10
Diagnosis of Fanconi Anemia: Mutation Analysis by Multiplex Ligation-Dependent Probe Amplification and PCR-Based Sanger Sequencing.
Gille JJ et al.
Anemia, 2012
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