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Nature Medicine|August 12, 2020
The role of exome sequencing in newborn screening for inborn errors of metabolismAashish N Adhikari, Renata C Gallagher, Yaqiong Wang, et al.
Pediatrics|January 27, 2019
Newborn Screening for Severe Combined Immunodeficiency and T-cell Lymphopenia in California, 2010-2017George S Amatuni, Robert J Currier, Joseph A Church, et al.
Blood|May 1, 2016
Update on the safety and efficacy of retroviral gene therapy for immunodeficiency due to adenosine deaminase deficiencyMaria Pia Cicalese, Francesca Ferrua, Laura Castagnaro, et al.
Science Advances|October 6, 2023
Integrome signatures of lentiviral gene therapy for SCID-X1 patientsKoon-Kiu Yan, Jose Condori, Zhijun Ma, et al.
Blood|November 1, 2011
IL-21 is the primary common γ chain-binding cytokine required for human B-cell differentiation in vivoMike Recher, Lucinda J Berglund, Danielle T Avery, et al.
The New England Journal of Medicine|December 22, 2022
Lentiviral Gene Therapy for Artemis-Deficient SCIDMorton J Cowan, Jason Yu, Janelle Facchino, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 17, 2025
The ClinGen Severe Combined Immunodeficiency Disease Variant Curation Expert Panel: Specifications for classification of variants in ADA, DCLRE1C, IL2RG, IL7R, JAK3, RAG1, and RAG2Vanessa C Jacovas, Michelle Zelnick, Shannon McNulty, et al.
The Journal of Allergy and Clinical Immunology|August 8, 2017
Plasma cell deficiency in human subjects with heterozygous mutations in Sec61 translocon alpha 1 subunit (SEC61A1)Desirée Schubert, Marie-Christine Klein, Sarah Hassdenteufel, et al.
Medrxiv : the Preprint Server for Health Sciences|February 24, 2025
The ClinGen Severe Combined Immunodeficiency Disease Variant Curation Expert Panel: Specifications for classification of variants in ADA , DCLRE1C , IL2RG , IL7R , JAK3 , RAG1 , and RAG2Vanessa C Jacovas, Michelle Zelnick, Shannon McNulty, et al.
Blood|April 2, 2011
Characterization and treatment of chronic active Epstein-Barr virus disease: a 28-year experience in the United StatesJeffrey I Cohen, Elaine S Jaffe, Janet K Dale, et al.
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