Associated Papers
A Rare Case of TFE3-Rearranged and SMARCB1-Mutated Renal Cell Carcinoma: Diagnostic and Therapeutic Complexities.
Pecorin PJ et al.
Case Reports in Oncological Medicine, 2026
High-throughput screening of human genetic variants by pooled prime editing.
Herger M et al.
Cell Genomics, 2025
40120586 (PubMed )
Supplement: mmc5.xlsx › Table_supp_SMARCB1-VariantData
A Carboxy-terminal Smarcb1 Point Mutation Induces Hydrocephalus Formation and Affects AP-1 and Neuronal Signalling Pathways in Mice.
Brugmans AK et al.
Cellular and Molecular Neurobiology, 2023
37219662 (PubMed )
Supplement: 10571_2023_1361_MOESM1_ESM.pdf
Genomic features of renal cell carcinoma developed during end-stage renal disease and dialysis.
Johnson TA et al.
Human Molecular Genetics, 2023
35981075 (PubMed )
Supplement: johnsonta_tables2_ddac180.xlsx › III_TG_Driver_summary
Correlations of switch/sucrose nonfermentable complex mutations with clinical outcomes in advanced non-small cell lung cancer.
Chang G et al.
Thoracic Cancer, 2022
36126963 (PubMed )
Supplement: TCA-13-2951-s001.xlsx › Sheet1
Clinically actionable cancer somatic variants (CACSV): a tumor interpreted dataset for analytical workflows.
Sobahy TM et al.
Bmc Medical Genomics, 2022
35468810 (PubMed )
Supplement: 12920_2022_1235_MOESM3_ESM.xlsx › OncoKB_unspecified-alterations.
Targeted deep sequencing of DNA from multiple tissue types improves the diagnostic rate and reveals a highly diverse phenotype of mosaic neurofibromatosis type 2.
Teranishi Y et al.
Journal of Medical Genetics, 2021
Primary cutaneous SMARCB1-deficient carcinoma.
Hui Y et al.
Journal of Cutaneous Pathology, 2021
Next generation sequencing of breast implant-associated anaplastic large cell lymphomas reveals a novel STAT3-JAK2 fusion among other activating genetic alterations within the JAK-STAT pathway.
Quesada AE et al.
The Breast Journal, 2021
Clinicopathologic Features of Non-Small-Cell Lung Cancer Harboring an NTRK Gene Fusion.
Farago AF et al.
Jco Precision Oncology, 2018
Genomic analysis of 220 CTCLs identifies a novel recurrent gain-of-function alteration in RLTPR (p.Q575E).
Park J et al.
Blood, 2017
Ultra-deep targeted sequencing of advanced oral squamous cell carcinoma identifies a mutation-based prognostic gene signature.
Chen SJ et al.
Oncotarget, 2015
25980437 (PubMed )
Supplement: oncotarget-06-18066-s004.xlsx › Sheet1
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