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Nature Immunology|September 15, 2020
A regulatory T cell Notch4-GDF15 axis licenses tissue inflammation in asthmaHani Harb, Emmanuel Stephen-Victor, Elena Crestani, et al.Nature Immunology|April 27, 2021
Author Correction: A regulatory T cell Notch4-GDF15 axis licenses tissue inflammation in asthmaHani Harb, Emmanuel Stephen-Victor, Elena Crestani, et al.Science Immunology|September 23, 2022
A Stk4-Foxp3-NF-κB p65 transcriptional complex promotes Treg cell activation and homeostasisYe Cui, Mehdi Benamar, Klaus Schmitz-Abe, et al.American Journal of Respiratory Cell and Molecular Biology|July 15, 2017
The Epithelial Sodium Channel Is a Modifier of the Long-Term Nonprogressive Phenotype Associated with F508del CFTR MutationsPankaj B Agrawal, Ruobing Wang, Hongmei Lisa Li, et al.Neurology|August 27, 2013
Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathyOzge Ceyhan-Birsoy, Pankaj B Agrawal, Carlos Hidalgo, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 6, 2018
ClinPhen extracts and prioritizes patient phenotypes directly from medical records to expedite genetic disease diagnosisCole A Deisseroth, Johannes Birgmeier, Ethan E Bodle, et al.Blood|August 5, 2016
A recurring mutation in the respiratory complex 1 protein NDUFB11 is responsible for a novel form of X-linked sideroblastic anemiaDaniel A Lichtenstein, Andrew W Crispin, Anoop K Sendamarai, et al.American Journal of Hematology|October 22, 2021
Congenital X-linked neutropenia with myelodysplasia and somatic tetraploidy due to a germline mutation in SEPT6Raffaele Renella, Katelyn Gagne, Ellen Beauchamp, et al.The Journal of Allergy and Clinical Immunology|February 9, 2023
Severe allergic dysregulation due to a gain of function mutation in the transcription factor STAT6Safa Baris, Mehdi Benamar, Qian Chen, et al.Genes|June 26, 2026
Multimodal Sequencing and Reanalysis Approaches to End the Diagnostic Odyssey of Individuals with Suspected Rare Monogenic DiseasesCatherine A Brownstein, Jill A Madden, Wanqing Shao, et al.Pageof 7