Sergio D. Rosenzweig

Activated STING in a Vascular and Pulmonary Syndrome

Adriana A. de Jesus, Bernadette Marrero, Dan Yang et al. · New England Journal of Medicine · 2014 · 1.3K 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

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

De novo <i>CIAS1</i> mutations, cytokine activation, and evidence for genetic heterogeneity in patients with neonatal‐onset multisystem inflammatory disease (NOMID): A new member of the expanding family of pyrin‐associated autoinflammatory diseases

Ivona Aksentijevich, Miroslawa Nowak, Mustapha Mallah et al. · Arthritis & Rheumatism · 2002 · 698 citations · Full text

Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype

Julie Toubiana, Satoshi Okada, Julia Hiller et al. · Blood · 2016 · 557 citations · Full text