Associated Papers
Computational modeling of human genetic variants in mice.
Dong K et al.
Biorxiv : the Preprint Server for Biology, 2025
40060429 (PubMed )
Supplement: media-1.zip › Supp_Data_6_KIT_pathogenecity.xlsx › Sheet1_AlphaMissense
A Comprehensive Guide to Achieving New York State Clinical Laboratory Evaluation Program Approval for Next-Generation Sequencing Assays.
Galbo PM et al.
The Journal of Molecular Diagnostics : Jmd, 2025
40158885 (PubMed )
Supplement: mmc12.xlsx › Sheet1
The clinical relevance of broad mutational screening of myeloproliferative neoplasms at diagnosis.
Pettersson H et al.
Frontiers in Oncology, 2023
37637067 (PubMed )
Supplement: Table_1.xlsx › Supplementary_table_1
The molecular profile in patients with polycythemia vera and essential thrombocythemia is dynamic and correlates with disease's phenotype.
Sobieralski P et al.
Frontiers in Oncology, 2023
37671053 (PubMed )
Supplement: Table_1.xlsx › ST1
SmMIP-tools: a computational toolset for processing and analysis of single-molecule molecular inversion probes-derived data.
Medeiros JJF et al.
Bioinformatics (oxford, England), 2022
35150236 (PubMed )
Supplement: btac081_supplementary_data.zip › Table_S4.xlsx › Clinically_reported_SNVs
KIT and Melanoma: Biological Insights and Clinical Implications.
Pham DDM et al.
Yonsei Medical Journal, 2020
Reassessing the role of high dose cytarabine and mitoxantrone in relapsed/refractory acute myeloid leukemia.
Canaani J et al.
Oncotarget, 2020
Clinical and genomic insights into circulating tumor DNA-based alterations across the spectrum of metastatic hormone-sensitive and castrate-resistant prostate cancer.
Kohli M et al.
Ebiomedicine, 2020
32268276 (PubMed )
Supplement: mmc5.xlsx › cfDNA_SNV
Clinical relevance of somatic mutations in main driver genes detected in gastric cancer patients by next-generation DNA sequencing.
Nemtsova MV et al.
Scientific Reports, 2020
A comprehensive evaluation of pathogenic mutations in primary cutaneous melanomas, including the identification of novel loss-of-function variants.
Ticha I et al.
Scientific Reports, 2019
31745173 (PubMed )
Supplement: 41598_2019_53636_MOESM2_ESM.xlsx › benign___likely_benign
SF3B1, NRAS, KIT, and BRAF Mutation; CD117 and cMYC Expression; and Tumoral Pigmentation in Sinonasal Melanomas: An Analysis With Newly Found Molecular Alterations and Some Population-Based Molecular Differences.
Wroblewska JP et al.
The American Journal of Surgical Pathology, 2019
Detection of BRAF, NRAS, KIT, GNAQ, GNA11 and MAP2K1/2 mutations in Russian melanoma patients using LNA PCR clamp and biochip analysis.
Emelyanova M et al.
Oncotarget, 2017
Targeted next generation sequencing of mucosal melanomas identifies frequent NF1 and RAS mutations.
Cosgarea I et al.
Oncotarget, 2017
Rare variants analysis of cutaneous malignant melanoma genes in Parkinson's disease.
Lubbe SJ et al.
Neurobiology of Aging, 2016
27640074 (PubMed )
Supplement: mmc2.xlsx › Suppl._Table_4
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