Associated Papers
Uncovering the Molecular Signatures of Rare Genetic Diseases in the Punjabi Population.
Tabassum I et al.
International Journal of Molecular Sciences, 2025
41516090 (PubMed )
Supplement: ijms-27-00206-s001.zip › Supplementary_Table_S2__Tabassum_et_al.xlsx › Table_S2A
Global Expansion of Jeffrey's Insights: Jeffrey Modell Foundation's Genetic Sequencing Program for Primary Immunodeficiency.
Quinn J et al.
Frontiers in Immunology, 2022
35757720 (PubMed )
Supplement: DataSheet_1.pdf
Recent advances in elucidating the genetics of common variable immunodeficiency.
Aggarwal V et al.
Genes & Diseases, 2020
Genetic mutations and immunological features of severe combined immunodeficiency patients in Iran.
Shahbazi Z et al.
Immunology Letters, 2019
Understanding V(D)J recombination initiator RAG1 gene using molecular phylogenetic and genetic variant analyses and upgrading missense and non-coding variants of clinical importance.
Kumar A et al.
Biochemical and Biophysical Research Communications, 2015
Identification of patients with RAG mutations previously diagnosed with common variable immunodeficiency disorders.
Buchbinder D et al.
Journal of Clinical Immunology, 2015
A novel immunodeficiency associated with hypomorphic RAG1 mutations and CMV infection.
de Villartay JP et al.
The Journal of Clinical Investigation, 2005
Identification of anti-herpes simplex virus antibody-producing B cells in a patient with an atypical RAG1 immunodeficiency.
Kumaki S et al.
Blood, 2001
V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations.
Villa A et al.
Blood, 2001
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