Associated Papers
Genetic etiology of 283 Chinese individuals with epilepsy using copy number variation sequencing and whole exome sequencing: a single-center cohort study.
Hu J et al.
Bmc Medical Genomics, 2025
The interplay of mutagenesis and ecDNA shapes urothelial cancer evolution.
Nguyen DD et al.
Nature, 2024
39385020 (PubMed )
Supplement: 41586_2024_7955_MOESM11_ESM.xlsx › Figure_3e
Tracking tumor evolution during the first-line treatment in brain glioma via serial profiling of cell-free tumor DNA from tumor in situ fluid.
Sheng Z et al.
Frontiers in Oncology, 2023
37920153 (PubMed )
Supplement: Table_1.xlsx › Table_S4.__Targetable_variants
Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.
Zhou X et al.
Nature Genetics, 2022
35982159 (PubMed )
Supplement: 41588_2022_1148_MOESM6_ESM.xlsx › SupplementaryData2_ASD_Rep_DNVs
Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk.
Chen JL et al.
Annual Review of Genomics and Human Genetics, 2022
36044908 (PubMed )
Supplement: gg23-giannikou_suptable1.xlsx › TSC1
Distinct Genomic Profiles Are Associated with Treatment Response and Survival in Ovarian Cancer.
de Witte CJ et al.
Cancers, 2022
35326660 (PubMed )
Supplement: cancers-14-01511-s001.zip › Supplemenatry_Tables_1_to_8.xlsx › TableS7_Actionability
Plasma ctDNA is a tumor tissue surrogate and enables clinical-genomic stratification of metastatic bladder cancer.
Vandekerkhove G et al.
Nature Communications, 2021
33420073 (PubMed )
Supplement: 41467_2020_20493_MOESM3_ESM.xlsx › Supplementary_Data_4
Genomic Landscape of Head and Neck Squamous Cell Carcinoma Across Different Anatomic Sites in Chinese Population.
Ju Y et al.
Frontiers in Genetics, 2021
34194478 (PubMed )
Supplement: Data_Sheet_1.xlsx › Table_S6
Molecular genetic diagnostics of tuberous sclerosis complex in Bulgaria: six novel mutations in the TSC1 and TSC2 genes.
Glushkova M et al.
Journal of Genetics, 2018
Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer.
Feliubadaló L et al.
Scientific Reports, 2017
28050010 (PubMed )
Supplement: srep37984-s1.doc
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