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The Journal of Experimental Medicine|October 25, 2021
T and B cell abnormalities, pneumocystis pneumonia, and chronic lymphocytic leukemia associated with an AIOLOS defect in patientsHye Sun Kuehn, Jingjie Chang, Motoi Yamashita, et al.
Frontiers in Immunology|November 15, 2023
Expansion of extrafollicular B and T cell subsets in childhood-onset systemic lupus erythematosusRyan M Baxter, Christine S Wang, Josselyn E Garcia-Perez, et al.
Cell Reports|June 26, 2025
A hypomorphic Il2rb mutant mouse model recapitulates and reveals mechanisms of human T cell immune dysregulation in IL-2Rβ deficiencyBerenice Cabrera-Martinez, Josselyn E Garcia-Perez, Ryan M Baxter, et al.
The Journal of Clinical Endocrinology and Metabolism|November 11, 2014
Exome sequencing for the diagnosis of 46,XY disorders of sex developmentRuth M Baxter, Valerie A Arboleda, Hane Lee, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 31, 2014
Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditionsKelly D Farwell, Layla Shahmirzadi, Dima El-Khechen, et al.
BJGP Open|November 14, 2025
The sensitivity of decision support tools for identifying patients with pancreatic cancerRachel E Neale, Susan J Jordan, Bridie Thompson, et al.
Science (New York, N.Y.)|July 4, 2015
OCEANOGRAPHY. Contrasting futures for ocean and society from different anthropogenic CO₂ emissions scenariosJ-P Gattuso, A Magnan, R Billé, et al.
Human Mutation|March 10, 2022
seqr: A web-based analysis and collaboration tool for rare disease genomicsLynn S Pais, Hana Snow, Ben Weisburd, et al.
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