Associated Papers
Impact of rare JAK/STAT germline mutations on vaccination-induced innate immune responses in a Tyrolian population.
Hennighausen L et al.
International Journal of Biological Sciences, 2026
Investigation of the transcriptional impact of rare germline JAK/STAT variants found in a Tyrolean alpine community.
Hennighausen L et al.
Bmc Genomics, 2025
Common origin and somatic mutation patterns of composite lymphomas and leukemias.
Berg V et al.
Leukemia, 2025
Genomic analyses of germline and somatic variation in high-grade serous ovarian cancer.
Adamson AW et al.
Journal of Ovarian Research, 2023
37460928 (PubMed )
Supplement: 13048_2023_1234_MOESM2_ESM.xlsx › Table_S10__
Human inherited complete STAT2 deficiency underlies inflammatory viral diseases.
Bucciol G et al.
The Journal of Clinical Investigation, 2023
Safety and efficacy of canakinumab treatment for undifferentiated autoinflammatory diseases: the data of a retrospective cohort two-centered study.
Alexeeva E et al.
Frontiers in Medicine, 2023
ATR represents a therapeutic vulnerability in clear cell renal cell carcinoma.
Seidel P et al.
Jci Insight, 2022
36413415 (PubMed )
Supplement: jciinsight-7-156087-s060.xlsx › SLR22
Genetic variability in COVID-19-related genes in the Brazilian population.
Secolin R et al.
Human Genome Variation, 2021
33824725 (PubMed )
Supplement: 41439_2021_146_MOESM3_ESM.xlsx › In_silico_prediction_results
Development and Validation of a Targeted Next-Generation Sequencing Gene Panel for Children With Neuroinflammation.
McCreary D et al.
Jama Network Open, 2019
31664448 (PubMed )
Supplement: jamanetwopen-2-e1914274-s001.pdf
Multiple Sclerosis patients carry an increased burden of exceedingly rare genetic variants in the inflammasome regulatory genes.
Vidmar L et al.
Scientific Reports, 2019
31235738 (PubMed )
Supplement: 41598_2019_45598_MOESM2_ESM.xlsx › Sheet1
Exome sequencing of a family with lone, autosomal dominant atrial flutter identifies a rare variation in ABCB4 significantly enriched in cases.
Maciąg A et al.
Bmc Genetics, 2015
25888430 (PubMed )
Supplement: 12863_2015_177_MOESM1_ESM.xls › Sheet1
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