Sinisa Savic

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 · 1.2K citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Tocilizumab in Hospitalized Patients with Severe Covid-19 Pneumonia

Iván O. Rosas, Norbert Bräu, Michael R. Waters et al. · New England Journal of Medicine · 2021 · 1.1K citations · Full text

Pharmacy, Immunology, Pharmacotherapy +13

Whole-genome sequencing of patients with rare diseases in a national health system

Ernest Turro, Karyn Mégy, Olga Shamardina et al. · Nature · 2020 · 582 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease

Keren Carss, Gavin Arno, Marie Erwood et al. · The American Journal of Human Genetics · 2016 · 484 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Clinical spectrum and features of activated phosphoinositide 3-kinase δ syndrome: A large patient cohort study

Tanya Coulter, Anita Chandra, Chris M. Bacon et al. · Journal of Allergy and Clinical Immunology · 2016 · 450 citations · Full text

Medicine, Immunology, Pediatrics +15