Concepedia

Patrick Maffucci

PM

Statistics

Publications

9

Citations

1K

H-Index

9

Active since

2013

Affiliations

Icahn School of Medicine at Mount Sinai(Current)

Rockefeller University

Institut des Maladies Génétiques Imagine

Inserm

Howard Hughes Medical Institute

Patrick Maffucci is an author at Icahn School of Medicine at Mount Sinai specializing in life sciences, genetics, and medical genetics.

ORCID

Publications per year

2013–2023

9

Publications

9

Genetic Diagnosis Using Whole Exome Sequencing in Common Variable Immunodeficiency

Patrick Maffucci, Charles A. Filion, Bertrand Boisson et al. · Frontiers in Immunology · 2016 · 267 citations · Full text

, , +17

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 · 245 citations · Full text

, , +12

Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndrome

Jennifer W. Leiding, Tiphanie P. Vogel, Valentine G.J. Santarlas et al. · Journal of Allergy and Clinical Immunology · 2022 · 124 citations · Full text

, , +11

Hyper IgM Syndrome: a Report from the USIDNET Registry

Emily Leven, Patrick Maffucci, Hans D. Ochs et al. · Journal of Clinical Immunology · 2016 · 114 citations · Full text

, , +5

Interferon Signature in the Blood in Inflammatory Common Variable Immune Deficiency

Joon Park, Indira Munagala, Hui Xu et al. · PLoS ONE · 2013 · 86 citations · Full text

, , +17

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