Associated Papers
In silico modeling guides identification of novel JAK1 variants associated with immune dysregulation.
Jeanpierre M et al.
Embo Molecular Medicine, 2025
41136770 (PubMed )
Supplement: 44321_2025_317_MOESM7_ESM.zip › Source_data_Figure_2 › Fig_2A_raw_numerical_data.xlsx › Feuil1
Comprehensive Genomic Studies on the Cell Blocks of Pancreatic Cancer.
Souza da Silva R et al.
Diagnostics (basel, Switzerland), 2024
Rare variant association analysis in 51,256 type 2 diabetes cases and 370,487 controls informs the spectrum of pathogenicity of monogenic diabetes genes.
Schroeder P et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
37808701 (PubMed )
Supplement: media-2.xlsx › T6
Circulating tumor DNA sequencing provides comprehensive mutation profiling for pediatric central nervous system tumors.
Bonner ER et al.
Npj Precision Oncology, 2022
36068285 (PubMed )
Supplement: 41698_2022_306_MOESM3_ESM.xlsx › 3.846CSF_Complete_Output
JAK Pseudokinase Domain Variants Highlight nRTK VUSs Identified with Next-Generation Sequencing in Solid Tumor Patients.
Stein MK et al.
Pathology Oncology Research : Por, 2019
Effect of non-synonymous SNP on JAK1 protein structure and subsequent function.
Liza R et al.
Bioinformation, 2019
Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.
Pritchard AL et al.
Plos One, 2018
29641532 (PubMed )
Supplement: pone.0194098.s003.xlsx › UK10K_Kinase_
Select a paper to view details