Patrick Maffucci

Hyper IgM Syndrome: a Report from the USIDNET Registry

R. Geha, C. Cunningham-Rundles, H. Ochs, 2016, Journal of Clinical Immunology.

Genetic Diagnosis Using Whole Exome Sequencing in Common Variable Immunodeficiency

J. Casanova, C. Cunningham-Rundles, B. Boisson, 2016, Front. Immunol..

Interferon Signature in the Blood in Inflammatory Common Variable Immune Deficiency

V. Pascual, J. Banchereau, D. Chaussabel, 2013, PloS one.

BRWD1 orchestrates epigenetic landscape of late B lymphopoiesis

C. Cunningham-Rundles, M. Maienschein-Cline, P. Maffucci, 2018, Nature Communications.

Monogenic Early-Onset Lymphoproliferation and Autoimmunity: The Natural History of STAT3 GOF Syndrome.

K. Schwarz, M. Weinrich, F. Rieux-Laucat, 2022, The Journal of allergy and clinical immunology.

Identifying high-impact variants and genes in exomes of Ashkenazi Jewish inflammatory bowel disease patients

Judy H. Cho, H. Ostrer, M. Daly, 2023, Nature communications.

Identifying novel high-impact rare disease-causing mutations, genes and pathways in exomes of Ashkenazi Jewish inflammatory bowel disease patients

H. Ostrer, M. Daly, J. Rioux, 2020, medRxiv.