Andrew R. Gennery

Activation-Induced Cytidine Deaminase (AID) Deficiency Causes the Autosomal Recessive Form of the Hyper-IgM Syndrome (HIGM2)

Patrick Revy, Taro Muto, Yves Lévy et al. · Cell · 2000 · 1.6K citations · Full text

Mendelian Disorder, Autoimmune Disease, Genetic Disorder +8

A Pathway of Double-Strand Break Rejoining Dependent upon ATM, Artemis, and Proteins Locating to γ-H2AX Foci

Enriqueta Riballo, Martin Kühne, Nicole Rief et al. · Molecular Cell · 2004 · 826 citations · Full text

Genome Instability, Transcriptional Regulation, Protein Function +8

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 · 581 citations · Full text

Primary Immunodeficiency, Vaccination, Maternal Immunization +10

DNA Ligase IV Mutations Identified in Patients Exhibiting Developmental Delay and Immunodeficiency

Mark O’Driscoll, Karen Cerosaletti, Pierre-M Girard et al. · Molecular Cell · 2001 · 535 citations · Full text

Primary Immunodeficiency, Genome Instability, Genetic Disorder +10

Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndrome

Karin R. Engelhardt, Sean McGhee, Sabine Winkler et al. · Journal of Allergy and Clinical Immunology · 2009 · 521 citations · Full text