Associated Papers
Clonal architecture of FLT3-ITD and acquired 13q uniparental disomy define prognostic heterogeneity and therapeutic vulnerabilities in acute myeloid leukemia.
Lai A et al.
Neoplasia (new York, N.y.), 2025
41411742 (PubMed )
Supplement: mmc2.xlsx › Sheet1
Investigation of the transcriptional impact of rare germline JAK/STAT variants found in a Tyrolean alpine community.
Hennighausen L et al.
Bmc Genomics, 2025
Spotlight on amino acid changing mutations in the JAK-STAT pathway: from disease-specific mutation to general mutation databases.
Hoffmann M et al.
Scientific Reports, 2025
39979591 (PubMed )
Supplement: 41598_2025_90788_MOESM2_ESM.docx
Insights into the role of JAK2-I724T variant in myeloproliferative neoplasms from a unique cohort of New Zealand patients.
Puli'uvea C et al.
Hematology (amsterdam, Netherlands), 2024
38197452 (PubMed )
Supplement: supplement_1.docx
Predisposing deleterious variants in the cancer-associated human kinases in the global populations.
Khan SA et al.
Plos One, 2024
38635549 (PubMed )
Supplement: pone.0298747.s003.xlsx › ExAC_deleterious_SNPs
Multiple Germline Events Contribute to Cancer Development in Patients with Li-Fraumeni Syndrome.
Subasri V et al.
Cancer Research Communications, 2023
37377903 (PubMed )
Supplement: crc-22-0402-s04.xlsx › A._Class3_SNVs_indels
Shared and divergent contribution of vitamin A and oxytocin to the aetiology of autism spectrum disorder.
Wang T et al.
Computational and Structural Biotechnology Journal, 2023
38213898 (PubMed )
Supplement: mmc2.xlsx › RIVs_in_VARGs
Hepatoblastomas with carcinoma features represent a biological spectrum of aggressive neoplasms in children and young adults.
Sumazin P et al.
Journal of Hepatology, 2022
35577029 (PubMed )
Supplement: mmc5.xlsx › Mutations
Development and validation of a multigene variant profiling assay to guide targeted and immuno therapy selection in solid tumors.
Akolkar D et al.
Plos One, 2021
33556149 (PubMed )
Supplement: pone.0246048.s008.xlsx › Sheet1
Distinct genomic subclasses of high-grade/progressive meningiomas: NF2-associated, NF2-exclusive, and NF2-agnostic.
Williams EA et al.
Acta Neuropathologica Communications, 2020
33087175 (PubMed )
Supplement: 40478_2020_1040_MOESM1_ESM.xlsx › Sheet1
Genetic and Transcriptomic Variation Linked to Neutrophil Granulocyte-Macrophage Colony-Stimulating Factor Signaling in Pediatric Crohn's Disease.
Denson LA et al.
Inflammatory Bowel Diseases, 2019
Next-generation sequencing for JAK2 mutation testing: advantages and pitfalls.
Maslah N et al.
Annals of Hematology, 2019
Mutations in the DNA methylation pathway and number of driver mutations predict response to azacitidine in myelodysplastic syndromes.
Cedena MT et al.
Oncotarget, 2017
29291002 (PubMed )
Supplement: oncotarget-08-106948-s002.xls › Hoja1
Genetic profiles of cervical tumors by high-throughput sequencing for personalized medical care.
Muller E et al.
Cancer Medicine, 2015
26155992 (PubMed )
Supplement: cam40004-1484-sd2.xlsx › supplementaryTab_S2
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