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The Journal of Allergy and Clinical Immunology|February 7, 2026
Targeted deep sequencing identifies mosaicism in patients with immune dysregulationElizabeth G Schmitz, Alexander J Paul, Rajarshi Ghosh, et al.American Journal of Human Genetics|April 17, 2018
Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital AnomaliesHanyin Cheng, Avinash V Dharmadhikari, Sylvia Varland, et al.The Journal of Allergy and Clinical Immunology|June 26, 2022
Clinical exome sequencing of 1000 families with complex immune phenotypes: Toward comprehensive genomic evaluationsMorgan N Similuk, Jia Yan, Rajarshi Ghosh, et al.The Journal of Allergy and Clinical Immunology|September 1, 2016
Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disordersAsbjørg Stray-Pedersen, Hanne Sørmo Sorte, Pubudu Samarakoon, et al.Science Immunology|January 10, 2025
Multiomics dissection of human RAG deficiency reveals distinctive patterns of immune dysregulation but a common inflammatory signatureMarita Bosticardo, Kerry Dobbs, Ottavia M Delmonte, et al.Pageof 27