Associated Papers
RAG genomic variation causes autoimmune diseases through specific structure-based mechanisms of enzyme dysregulation.
Haque N et al.
Iscience, 2023
Phenotypic Variation in Two Siblings Affected with Shwachman-Diamond Syndrome: The Use of Expert Variant Interpreter (eVai) Suggests Clinical Relevance of a Variant in the KMT2A Gene.
Taha I et al.
Genes, 2022
35893049 (PubMed )
Supplement: genes-13-01314-s001.zip › genes-1798999-supplementary.xlsx › Table_S3
A rapid turnaround gene panel for severe autoinflammation: Genetic results within 48 hours.
McCreary D et al.
Frontiers in Immunology, 2022
Targeted NGS Yields Plentiful Ultra-Rare Variants in Inborn Errors of Immunity Patients.
Grossi A et al.
Genes, 2021
34573280 (PubMed )
Supplement: genes-12-01299-s001.zip › genes-1330791-suppl › Grossi_et_al_GENES_1330791_Supplemantary_Information_Table_S4_R1.xlsx › Foglio1
Estimated disease incidence of RAG1/2 mutations: A case report and querying the Exome Aggregation Consortium.
Kumánovics A et al.
The Journal of Allergy and Clinical Immunology, 2017
Common Variable Immunodeficiency patients with a phenotypic profile of immunosenescence present with thrombocytopenia.
Stuchlý J et al.
Scientific Reports, 2017
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
XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.
Talukder AK et al.
Plos One, 2015
25905921 (PubMed )
Supplement: pone.0123569.s008.xls › BC4_ERR166308
A systematic analysis of recombination activity and genotype-phenotype correlation in human recombination-activating gene 1 deficiency.
Lee YN et al.
The Journal of Allergy and Clinical Immunology, 2014
Autoimmunity due to RAG deficiency and estimated disease incidence in RAG1/2 mutations.
Chen K et al.
The Journal of Allergy and Clinical Immunology, 2014
Targeted NGS: A Cost-Effective Approach to Molecular Diagnosis of PIDs.
Stoddard JL et al.
Frontiers in Immunology, 2014
25404929 (PubMed )
Supplement: Data_Sheet_1.XLSX › Table_S4
GvHD-associated cytokine polymorphisms do not associate with Omenn syndrome rather than T-B- SCID in patients with defects in RAG genes.
Haq IJ et al.
Clinical Immunology (orlando, Fla.), 2007
RAG1 deficiency with a shifting B cell phenotype and chromosomal instability.
Ghosh S et al.
Clinical Immunology (orlando, Fla.), 0
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