RAG1 Deficiency May Present Clinically as Selective IgA Deficiency

SIFT: predicting amino acid changes that affect protein function

P.C. Ng · Nucleic Acids Research · 2003 · 6.9K citations · Full text

Life Sciences, Bioinformatics, Genetics +17

Artemis, a Novel DNA Double-Strand Break Repair/V(D)J Recombination Protein, Is Mutated in Human Severe Combined Immune Deficiency

Despina Moshous, Isabelle Callebaut, Régina de Chasseval et al. · Cell · 2001 · 901 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Partial V(D)J Recombination Activity Leads to Omenn Syndrome

Anna Villa, Sandro Santagata, Fabio Bozzi et al. · Cell · 1998 · 462 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations

Anna Villa · Blood · 2001 · 346 citations · Full text

Life Sciences, Genetics, Immunology +17

An Immunodeficiency Disease with<i>RAG</i>Mutations and Granulomas

Catharina Schuetz, Kirsten Huck, Sonja Gudowius et al. · New England Journal of Medicine · 2008 · 218 citations

Life Sciences, Genetics, Immunology +17