Associated Papers
The ClinGen Severe Combined Immunodeficiency Disease Variant Curation Expert Panel: Specifications for classification of variants in ADA, DCLRE1C, IL2RG, IL7R, JAK3, RAG1, and RAG2.
Jacovas VC et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2026
The ClinGen Severe Combined Immunodeficiency Disease Variant Curation Expert Panel: Specifications for classification of variants in ADA , DCLRE1C , IL2RG , IL7R , JAK3 , RAG1 , and RAG2.
Jacovas VC et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.
Mao X et al.
Medicine, 2024
39969324 (PubMed )
Supplement: medi-103-e41064-s001.xlsx › S2
Role of RNA Alternative Splicing in T Cell Function and Disease.
Banerjee S et al.
Genes, 2023
Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.
Huang X et al.
Orphanet Journal of Rare Diseases, 2022
35193651 (PubMed )
Supplement: 13023_2022_2231_MOESM2_ESM.xlsx › InputVariantsForDesign
Identification of Heterozygous Single- and Multi-exon Deletions in IL7R by Whole Exome Sequencing.
Engelhardt KR et al.
Journal of Clinical Immunology, 2017
Signal transducer and activator of transcription 5 tyrosine phosphorylation for the diagnosis and monitoring of patients with severe combined immunodeficiency.
Walshe D et al.
The Journal of Allergy and Clinical Immunology, 2009
Unusual clinical and immunologic manifestations of transplacentally acquired maternal T cells in severe combined immunodeficiency.
Palmer K et al.
The Journal of Allergy and Clinical Immunology, 2007
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