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

Life Sciences, Genetics, Molecular Genetics +13

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 · 832 citations · Full text

Life Sciences, Cell Biology, Molecular Biology +10

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

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 · 540 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

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 · 525 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16