Joshua D. Milner

Impaired TH17 cell differentiation in subjects with autosomal dominant hyper-IgE syndrome

Joshua D. Milner, Jason M. Brenchley, Arian Laurence et al. · Nature · 2008 · 1.1K citations · Full text

Immunogenetics, Immune Cell Development, Immunodeficiencies +8

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

Development of a Definition of Postacute Sequelae of SARS-CoV-2 Infection

Tanayott Thaweethai, Sarah E. Jolley, Elizabeth W. Karlson et al. · JAMA · 2023 · 792 citations · Full text

Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources

Sebastian Köhler, Leigh Carmody, Nicole Vasilevsky et al. · Nucleic Acids Research · 2018 · 711 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