Associated Papers
Whole exome sequencing reveals an FCGBP variant associated with spontaneous intraabdominal hemorrhage in severe acute pancreatitis.
Tang QY et al.
Imetaomics, 2025
41675706 (PubMed )
Supplement: IMO2-2-e52-s002.xlsx › 2D
Comprehensive characterization of early-onset lung cancer, in Chinese young adults.
Tian Y et al.
Nature Communications, 2025
40000630 (PubMed )
Supplement: 41467_2025_57309_MOESM8_ESM.xlsx › DNA_results
Somatic Mutation of PRKAR1A in Four Cases of Sporadic Cardiac Myxoma.
Sun Y et al.
Archives of Iranian Medicine, 2023
Whole-exome sequencing identified recurrent and novel variants in benzene-induced leukemia.
Lin D et al.
Bmc Medical Genomics, 2023
36703207 (PubMed )
Supplement: 12920_2023_1442_MOESM3_ESM.xlsx › Sheet1
Development and validation of a mutation-based model to predict immunotherapeutic efficacy in NSCLC.
He P et al.
Frontiers in Oncology, 2023
36910641 (PubMed )
Supplement: DataSheet_1.xlsx › Table_S8
Comprehensive genomic profiling reveals prognostic signatures and insights into the molecular landscape of colorectal cancer.
Yang J et al.
Frontiers in Oncology, 2023
38023196 (PubMed )
Supplement: Table_1.xlsx › Table_S5
Individualized combination therapies based on whole-exome sequencing displayed significant clinical benefits in a glioblastoma patient with secondary osteosarcoma: case report and genetic characterization.
Yi GZ et al.
Bmc Neurology, 2022
DICER1-associated central nervous system sarcoma with neural lineage differentiation: a case report.
Yao K et al.
Diagnostic Pathology, 2022
The earliest events in BRAF-mutant colorectal cancer: exome sequencing of sessile serrated lesions with a tiny focus dysplasia or cancer reveals recurring mutations in two distinct progression pathways.
Bleijenberg AG et al.
The Journal of Pathology, 2022
35143042 (PubMed )
Supplement: PATH-257-239-s001.xlsx › all_driver_genes_15-4-2020
RET c.1901G>A and Novel SLC12A3 Mutations in Familial Pheochromocytomas
Zhao L et al.
Genes, 2022
35627249 (PubMed )
Supplement: genes-13-00864-s001.zip › Supplementary_Material_S1.The_information_of_annotated_gene_mutations1.xlsx › ___
Case Report: A Novel Mutation Identified in CHST14 Gene in a Fetus With Structural Abnormalities.
Zhou YY et al.
Frontiers in Genetics, 2022
35464846 (PubMed )
Supplement: Table1.xlsx › DX1515_20D2319547R
Cell-Free DNA Variant Sequencing Using Plasma and AR-V7 Testing of Circulating Tumor Cells in Prostate Cancer Patients.
Lieb V et al.
Cells, 2021
34831445 (PubMed )
Supplement: cells-10-03223-s001.zip › Suppl._Table_S1.xlsx › variant_score
A 300-kb microduplication of 7q36.3 in a patient with triphalangeal thumb-polysyndactyly syndrome combined with congenital heart disease and optic disc coloboma: a case report.
Zlotina A et al.
Bmc Medical Genomics, 2020
33218365 (PubMed )
Supplement: 12920_2020_821_MOESM1_ESM.xlsx › Sheet_1
Mutational landscape and genetic signatures of cell-free DNA in tumour-induced osteomalacia.
Wu N et al.
Journal of Cellular and Molecular Medicine, 2020
32277576 (PubMed )
Supplement: JCMM-24-4931-s011.xlsx › Sheet1
NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development.
Baetens D et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
27490115 (PubMed )
Supplement: gim2016118x1.zip › 20160703_supplemental_data_FINAL_160706.docx
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