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Neurology(R) Neuroimmunology & Neuroinflammation|March 20, 2023
TNF-Blockade for Primary Stroke Prevention in Adenosine Deaminase 2 Deficiency: A Case SeriesAriane Soldatos, Camilo Toro, Patrycja Hoffmann, et al.Human Genome Variation|September 5, 2020
Early-onset breast cancer in a woman with a germline mobile element insertion resulting in BRCA2 disruption: a case reportNatalie Deuitch, Shao-Tzu Li, Eliza Courtney, et al.Biorxiv : the Preprint Server for Biology|February 15, 2023
Genomic Landscape of Patients with Germline RUNX1 Variants and Familial Platelet Disorder with Myeloid MalignancyKai Yu, Natalie Deuitch, Matthew Merguerian, et al.Blood Advances|November 29, 2023
Genomic landscape of patients with germline RUNX1 variants and familial platelet disorder with myeloid malignancyKai Yu, Natalie Deuitch, Matthew Merguerian, et al.Arthritis & Rheumatology (Hoboken, N.J.)|May 26, 2017
Brief Report: Deficiency of Complement 1r Subcomponent in Early-Onset Systemic Lupus Erythematosus: The Role of Disease-Modifying Alleles in a Monogenic DiseaseErkan Demirkaya, Qing Zhou, Carolyne K Smith, et al.Journal of Clinical Immunology|July 9, 2020
Deficiency of Adenosine Deaminase 2 (DADA2): Hidden Variants, Reduced Penetrance, and Unusual InheritanceOskar Schnappauf, Qing Zhou, Natalia Sampaio Moura, et al.Proceedings of the National Academy of Sciences of the United States of America|August 26, 2016
Biallelic hypomorphic mutations in a linear deubiquitinase define otulipenia, an early-onset autoinflammatory diseaseQing Zhou, Xiaomin Yu, Erkan Demirkaya, et al.Nature|December 13, 2019
A dominant autoinflammatory disease caused by non-cleavable variants of RIPK1Panfeng Tao, Jinqiao Sun, Zheming Wu, et al.Annals of the Rheumatic Diseases|February 23, 2021
Systematic evaluation of nine monogenic autoinflammatory diseases reveals common and disease-specific correlations with allergy-associated featuresDaniella Muallem Schwartz, Moses M Kitakule, Brian Lp Dizon, et al.The New England Journal of Medicine|May 31, 2023
Variant STAT4 and Response to Ruxolitinib in an Autoinflammatory SyndromeHratch Baghdassarian, Sarah A Blackstone, Owen S Clay, et al.Pageof 3