The DOI matches its Crossref record; 74 of the 74 references it cites were found in a registry or an index.
Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype
Open accessAbstract
Key Points: AD STAT1 GOF is the most common genetic cause of inherited CMC and is not restricted to a specific age or ethnic group. STAT1 GOF underlies a variety of infectious and autoimmune features, as well as carcinomas and aneurysms associated with a poor outcome.
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Prevalence of intellectual disability: a meta-analysis of population-based studies
Maulik, P. K., Mascarenhas, M. N., Mathers, C. D., Dua, T., & Saxena, S. (2011) · Research in Developmental Disabilities · doi:10.1016/j.ridd.2010.12.018 · Cited by 1,770
Epidemiology and estimated population burden of selected autoimmune diseases in the United States
Jacobson, D. L., Gange, S. J., Rose, N. R., & Graham, N. M. H. (1997) · Clinical Immunology and Immunopathology · doi:10.1006/clin.1997.4412 · Cited by 1,667
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Edwards, B. K., Noone, A., Mariotto, A. B., Simard, E. P., Boscoe, F. P., Henley, S. J., Jemal, A., Cho, H., Anderson, R. N., Kohler, B. A., et al. (2014) · Cancer · doi:10.1002/cncr.28509 · Cited by 1,210
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Impaired TH17 cell differentiation in subjects with autosomal dominant hyper-IgE syndrome
Milner, J. D., Brenchley, J. M., Laurence, A., Freeman, A. F., Hill, B. J., Elias, K. M., Kanno, Y., Spalding, C., Elloumi, H. Z., Paulson, M. L., et al. (2008) · Nature · doi:10.1038/nature06764 · Cited by 1,157
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Pathogenesis and virulence of Candida albicans
Lopes, J. P., & Lionakis, M. S. (2022) · Virulence · doi:10.1080/21505594.2021.2019950 · Cited by 477
Immune responses to human fungal pathogens and therapeutic prospects
Lionakis, M. S., Drummond, R. A., & Hohl, T. M. (2023) · Nature Reviews Immunology · doi:10.1038/s41577-022-00826-w · Cited by 379
Husebye, E. S., Pearce, S. H., Krone, N. P., & Kämpe, O. (2021) · The Lancet · doi:10.1016/s0140-6736(21)00136-7 · Cited by 378
Michalska, A., Blaszczyk, K., Wesoly, J., & Bluyssen, H. A. R. (2018) · Frontiers in Immunology · doi:10.3389/fimmu.2018.01135 · Cited by 322
JAK inhibitors for the treatment of autoimmune and inflammatory diseases
Jamilloux, Y., El Jammal, T., Vuitton, L., Gerfaud-Valentin, M., Kerever, S., & Sève, P. (2019) · Autoimmunity Reviews · doi:10.1016/j.autrev.2019.102390 · Cited by 264
Metadata
- Authors
- Toubiana, J., Okada, S., Hiller, J., Oleastro, M., Lagos Gomez, M., Aldave Becerra, J. C., Ouachée-Chardin, M., Fouyssac, F., Girisha, K. M., Etzioni, A., Van Montfrans, J., Camcioglu, Y., Kerns, L. A., Belohradsky, B., Blanche, S., Bousfiha, A., Rodriguez-Gallego, C., Meyts, I., Kisand, K., Reichenbach, J., Renner, E. D., Rosenzweig, S., Grimbacher, B., van de Veerdonk, F. L., Traidl-Hoffmann, C., Picard, C., Marodi, L., Morio, T., Kobayashi, M., Lilic, D., Milner, J. D., Holland, S., Casanova, J.-L., & Puel, A.
- Venue
- Blood
- Publisher
- American Society of Hematology
- Published
- 2016-06-23
- Volume
- 127
- Issue
- 25
- Pages
- 3154-3164
- ISSN
- 0006-4971 (ISSN-L)
- 1528-0020
- OpenAlex
- W2467020097
- Cited by
- 577
- References
- 74
- FWCI
- 29.78
- Type
- journal article
- Language
- en
- Open access
- bronze
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- CoChat. (2026). Citation check: Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype. https://app.cochat.ai/papers/10.1182/blood-2015-11-679902
- The paper
- Toubiana, J., Okada, S., Hiller, J., Oleastro, M., Lagos Gomez, M., Aldave Becerra, J. C., Ouachée-Chardin, M., Fouyssac, F., Girisha, K. M., Etzioni, A., Van Montfrans, J., Camcioglu, Y., Kerns, L. A., Belohradsky, B., Blanche, S., Bousfiha, A., Rodriguez-Gallego, C., Meyts, I., Kisand, K., . . . Puel, A. (2016). Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype. Blood. https://doi.org/10.1182/blood-2015-11-679902
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
