Patrycja Hoffmann
National Human Genome Research Institute(US)
Publications by Year
Research Areas
Inflammasome and immune disorders, interferon and immune responses, Adenosine and Purinergic Signaling, NF-κB Signaling Pathways, Liver Disease Diagnosis and Treatment
Most-Cited Works
- → Somatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease(2020)1,092 cited
- → Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2(2014)875 cited
- → Loss-of-function mutations in TNFAIP3 leading to A20 haploinsufficiency cause an early-onset autoinflammatory disease(2015)613 cited
- → Mutations that prevent caspase cleavage of RIPK1 cause autoinflammatory disease(2019)323 cited
- → Somatic Mutations in UBA1 Define a Distinct Subset of Relapsing Polychondritis Patients With VEXAS(2021)229 cited
- → Benign and malignant hematologic manifestations in patients with VEXAS syndrome due to somatic mutations in UBA1(2021)226 cited
- → A20 haploinsufficiency (HA20): clinical phenotypes and disease course of patients with a newly recognised NF-kB-mediated autoinflammatory disease(2018)224 cited
- → Treatment Strategies for Deficiency of Adenosine Deaminase 2(2019)190 cited
- → Translation of cytoplasmic UBA1 contributes to VEXAS syndrome pathogenesis(2022)166 cited
- → Ancient familial Mediterranean fever mutations in human pyrin and resistance to Yersinia pestis(2020)148 cited