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The Journal of Allergy and Clinical Immunology|April 30, 2026
Clinical features, genetics, treatment, and long-term outcomes of STAT3 hyper-IgE syndrome: a single-center cohort analysisAlexandra F Freeman, Chen Wang, Amanda Urban, et al.
Science Translational Medicine|September 18, 2024
A deep intronic splice-altering AIRE variant causes APECED syndrome through antisense oligonucleotide-targetable pseudoexon inclusionSebastian Ochoa, Amy P Hsu, Andrew J Oler, et al.
JAMA Pediatrics|October 4, 2017
Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical ManagementLinyan Meng, Mohan Pammi, Anirudh Saronwala, et al.
Transplantation|July 31, 2025
Further Personalizing Medicine in Immune Disorders: Genomic Findings and Hematopoietic Cell Transplantation SurvivalMorgan N Similuk, Sarah A Bannon, Jia Yan, et al.
Genome Medicine|September 23, 2017
Identification of novel candidate disease genes from de novo exonic copy number variantsTomasz Gambin, Bo Yuan, Weimin Bi, et al.
Neurology|June 10, 2016
TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic featuresSimona Balestrini, Mathieu Milh, Claudia Castiglioni, et al.
The European Respiratory Journal|April 20, 2013
The geographic diversity of nontuberculous mycobacteria isolated from pulmonary samples: an NTM-NET collaborative studyWouter Hoefsloot, Jakko van Ingen, Claire Andrejak, et al.
American Journal of Human Genetics|August 27, 2019
Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature AgingElisabetta Flex, Simone Martinelli, Anke Van Dijck, et al.
The Journal of Clinical Investigation|November 15, 2022
Human Dectin-1 deficiency impairs macrophage-mediated defense against phaeohyphomycosisRebecca A Drummond, Jigar V Desai, Amy P Hsu, et al.
The New England Journal of Medicine|May 29, 2024
The Role of Interferon-γ in Autoimmune Polyendocrine Syndrome Type 1Vasileios Oikonomou, Grace Smith, Gregory M Constantine, et al.
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