Associated Papers
New genetic diagnoses for inherited retinal dystrophies by integrating splicing tools into NGS pipelines.
Fernández-Suárez E et al.
Npj Genomic Medicine, 2025
40603303 (PubMed )
Supplement: 41525_2025_500_MOESM2_ESM.xlsx › Supplementary_Data_1
Tumor DNA from tumor in situ fluid was used to track evolution of glioma under first-line treatment.
Yu J et al.
Frontiers in Oncology, 2025
41179686 (PubMed )
Supplement: Table3.xls › Mutations_in_primary_tumor
Exploring genetic testing requests, genetic alterations and clinical associations in a cohort of children with autism spectrum disorder.
Garrido-Torres N et al.
European Child & Adolescent Psychiatry, 2024
The application of whole-exome sequencing in the early diagnosis of rare genetic diseases in children: a study from Southeastern China.
Lai G et al.
Frontiers in Pediatrics, 2024
39439447 (PubMed )
Supplement: Table1.xlsx › Supplementary_Table_1
Variant allele frequency changes in TP53 predict pembrolizumab response in patients with metastatic urothelial carcinoma.
Hamada K et al.
Oncology Letters, 2023
37559592 (PubMed )
Supplement: Supplementary_Data2.xlsx › Sheet1
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
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 › PTEN
Targeted Next-Generation Sequencing Combined With Circulating-Free DNA Deciphers Spatial Heterogeneity of Resected Multifocal Hepatocellular Carcinoma.
Lin J et al.
Frontiers in Immunology, 2021
34211467 (PubMed )
Supplement: Table_1.xlsx › TableS2
Yield and Utility of Germline Testing Following Tumor Sequencing in Patients With Cancer.
Lincoln SE et al.
Jama Network Open, 2020
33026450 (PubMed )
Supplement: jamanetwopen-e2019452-s001.pdf
Circulating Tumor DNA Analysis and Functional Imaging Provide Complementary Approaches for Comprehensive Disease Monitoring in Metastatic Melanoma.
Wong SQ et al.
Jco Precision Oncology, 2017
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