Patrycja Hoffmann

Somatic Mutations in <i>UBA1</i> and Severe Adult-Onset Autoinflammatory Disease

David B. Beck, Marcela A. Ferrada, Keith A. Sikora et al. · New England Journal of Medicine · 2020 · 1.1K citations · Full text

Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2

Qing Zhou, Dan Yang, Amanda K. Ombrello et al. · New England Journal of Medicine · 2014 · 871 citations · Full text

Loss-of-function mutations in TNFAIP3 leading to A20 haploinsufficiency cause an early-onset autoinflammatory disease

Qing Zhou, Hongying Wang, Daniella M. Schwartz et al. · Nature Genetics · 2015 · 601 citations · Full text

Inflammation, Rheumatology, A20 Haploinsufficiency Cause +14

Mutations that prevent caspase cleavage of RIPK1 cause autoinflammatory disease

Najoua Lalaoui, Steven E. Boyden, Hirotsugu Oda et al. · Nature · 2019 · 316 citations · Full text

Autoinflammatory Disorders, Pathogenesis, Immunology +9

Somatic Mutations in <i>UBA1</i> Define a Distinct Subset of Relapsing Polychondritis Patients With VEXAS

Marcela A. Ferrada, Keith A. Sikora, Yiming Luo et al. · Arthritis & Rheumatology · 2021 · 228 citations