Patrick Maffucci

Genetic Diagnosis Using Whole Exome Sequencing in Common Variable Immunodeficiency

Patrick Maffucci, Charles A. Filion, Bertrand Boisson et al. · Frontiers in Immunology · 2016 · 262 citations · Full text

Loss of B Cells in Patients with Heterozygous Mutations in IKAROS

Hye Sun Kuehn, Bertrand Boisson, Charlotte Cunningham‐Rundles et al. · New England Journal of Medicine · 2016 · 243 citations · Full text

Hyper IgM Syndrome: a Report from the USIDNET Registry

Emily Leven, Patrick Maffucci, Hans D. Ochs et al. · Journal of Clinical Immunology · 2016 · 110 citations · Full text

Down Syndrome, Autoimmune Disease, Genetic Disorder +5

Interferon Signature in the Blood in Inflammatory Common Variable Immune Deficiency

Joon Park, Indira Munagala, Hui Xu et al. · PLoS ONE · 2013 · 85 citations · Full text

Inflammatory Complications, Inflammatory Lung Disease, Immunodeficiencies +20

Blacklisting variants common in private cohorts but not in public databases optimizes human exome analysis

Patrick Maffucci, Benedetta Bigio, Franck Rapaport et al. · Proceedings of the National Academy of Sciences · 2018 · 72 citations · Full text