Diagnostic Yield of Next Generation Sequencing in Genetically Undiagnosed Patients with Primary Immunodeficiencies: a Systematic Review
2019 · Journal of Clinical Immunology · 80 citations
https://doi.org/10.1007/s10875-019-00656-x
J
Joris M. van Montfrans
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Joris M. van Montfrans is an academic researcher from Utrecht University. The author has contributed to research in topics: Immunodeficiency and Autoimmune Disorders & Cystic Fibrosis Research Advances & Blood disorders and treatments. The author has an h-index of 31, co-authored 91 publications.
ORCID: 0000-0001-6764-0211Papers by this author
worksEvaluation and Management of Deficiency of Adenosine Deaminase 2
2023 · JAMA Network Open · 74 citations
https://doi.org/10.1001/jamanetworkopen.2023.15894
Cost and impact of early diagnosis in primary immunodeficiency disease: A literature review
2020 · Clinical Immunology · 59 citations
https://doi.org/10.1016/j.clim.2020.108359
Embracing Complexity beyond Systems Medicine: A New Approach to Chronic Immune Disorders
2016 · Frontiers in Immunology · 37 citations
https://doi.org/10.3389/fimmu.2016.00587
Ankyrin repeat and zinc-finger domain-containing 1 mutations are associated with infantile-onset inflammatory bowel disease
2017 · Journal of Biological Chemistry · 37 citations
https://doi.org/10.1074/jbc.m116.772038
Chronically Activated T-cells Retain Their Inflammatory Properties in Common Variable Immunodeficiency
2021 · Journal of Clinical Immunology · 31 citations
https://doi.org/10.1007/s10875-021-01084-6
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