Sofia Grigoriadou

A robust model for read count data in exome sequencing experiments and implications for copy number variant calling

Vincent Plagnol, James Curtis, Michael P. Epstein et al. · Bioinformatics · 2012 · 753 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

The European Society for Immunodeficiencies (ESID) Registry Working Definitions for the Clinical Diagnosis of Inborn Errors of Immunity

Markus G. Seidel, Gerhard Kindle, Benjamin Gathmann et al. · The Journal of Allergy and Clinical Immunology In Practice · 2019 · 621 citations · Full text

Life Sciences, Immunology, Pediatrics +12

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

Azithromycin in patients admitted to hospital with COVID-19 (RECOVERY): a randomised, controlled, open-label, platform trial

Eugenia Abaleke, Mustafa Abbas, Sadia Abbasi et al. · The Lancet · 2021 · 564 citations · Full text

Pharmacy, Infectious Diseases, Pharmacotherapy +6

Convalescent plasma in patients admitted to hospital with COVID-19 (RECOVERY): a randomised controlled, open-label, platform trial

Obbina Abani, Ali Abbas, Fatima Abbas et al. · The Lancet · 2021 · 521 citations · Full text

Pharmacy, Internal Medicine, Pharmacotherapy +11