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Year Number of Results
2010 1
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33 results

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Page 1
AUTOIMMUNE DISEASE. Patients with LRBA deficiency show CTLA4 loss and immune dysregulation responsive to abatacept therapy.
Lo B, Zhang K, Lu W, Zheng L, Zhang Q, Kanellopoulou C, Zhang Y, Liu Z, Fritz JM, Marsh R, Husami A, Kissell D, Nortman S, Chaturvedi V, Haines H, Young LR, Mo J, Filipovich AH, Bleesing JJ, Mustillo P, Stephens M, Rueda CM, Chougnet CA, Hoebe K, McElwee J, Hughes JD, Karakoc-Aydiner E, Matthews HF, Price S, Su HC, Rao VK, Lenardo MJ, Jordan MB. Lo B, et al. Among authors: husami a. Science. 2015 Jul 24;349(6246):436-40. doi: 10.1126/science.aaa1663. Science. 2015. PMID: 26206937
Systemic Juvenile Idiopathic Arthritis-Associated Lung Disease: Characterization and Risk Factors.
Schulert GS, Yasin S, Carey B, Chalk C, Do T, Schapiro AH, Husami A, Watts A, Brunner HI, Huggins J, Mellins ED, Morgan EM, Ting T, Trapnell BC, Wikenheiser-Brokamp KA, Towe C, Grom AA. Schulert GS, et al. Among authors: husami a. Arthritis Rheumatol. 2019 Nov;71(11):1943-1954. doi: 10.1002/art.41073. Epub 2019 Oct 1. Arthritis Rheumatol. 2019. PMID: 31379071 Free PMC article.
A personalized medicine approach to optimize care for a pediatric cystic fibrosis patient with atypical clinical symptoms.
Lee J, Husami A, Arora K, Zhang W, Kadri F, Yarlagadda S, Moon C, Mun KS, Zhang K, Huang Y, Liyanage P, Brewington J, Clancy JP, Shaikhkhalil A, Paul G, Naren AP. Lee J, et al. Among authors: husami a. Pediatr Pulmonol. 2024 Jan;59(1):229-232. doi: 10.1002/ppul.26719. Epub 2023 Oct 11. Pediatr Pulmonol. 2024. PMID: 37818777 Free PMC article. No abstract available.
ARF1-related disorder: phenotypic and molecular spectrum.
de Sainte Agathe JM, Pode-Shakked B, Naudion S, Michaud V, Arveiler B, Fergelot P, Delmas J, Keren B, Poirsier C, Alkuraya FS, Tabarki B, Bend E, Davis K, Bebin M, Thompson ML, Bryant EM, Wagner M, Hannibal I, Lenberg J, Krenn M, Wigby KM, Friedman JR, Iascone M, Cereda A, Miao T, LeGuern E, Argilli E, Sherr E, Caluseriu O, Tidwell T, Bayrak-Toydemir P, Hagedorn C, Brugger M, Vill K, Morneau-Jacob FD, Chung W, Weaver KN, Owens JW, Husami A, Chaudhari BP, Stone BS, Burns K, Li R, de Lange IM, Biehler M, Ginglinger E, Gérard B, Stottmann RW, Trimouille A. de Sainte Agathe JM, et al. Among authors: husami a. J Med Genet. 2023 Oct;60(10):999-1005. doi: 10.1136/jmg-2022-108803. Epub 2023 Apr 25. J Med Genet. 2023. PMID: 37185208 Free PMC article.
Introducing HL7 FHIR Genomics Operations: a developer-friendly approach to genomics-EHR integration.
Dolin RH, Heale BSE, Alterovitz G, Gupta R, Aronson J, Boxwala A, Gothi SR, Haines D, Hermann A, Hongsermeier T, Husami A, Jones J, Naeymi-Rad F, Rapchak B, Ravishankar C, Shalaby J, Terry M, Xie N, Zhang P, Chamala S. Dolin RH, et al. Among authors: husami a. J Am Med Inform Assoc. 2023 Feb 16;30(3):485-493. doi: 10.1093/jamia/ocac246. J Am Med Inform Assoc. 2023. PMID: 36548217 Free PMC article.
vcf2fhir: a utility to convert VCF files into HL7 FHIR format for genomics-EHR integration.
Dolin RH, Gothi SR, Boxwala A, Heale BSE, Husami A, Jones J, Khangar H, Londhe S, Naeymi-Rad F, Rao S, Rapchak B, Shalaby J, Suraj V, Xie N, Chamala S, Alterovitz G. Dolin RH, et al. Among authors: husami a. BMC Bioinformatics. 2021 Mar 2;22(1):104. doi: 10.1186/s12859-021-04039-1. BMC Bioinformatics. 2021. PMID: 33653260 Free PMC article.
PPP2R1A neurodevelopmental disorder is associated with congenital heart defects.
Baker EK, Solivio B, Pode-Shakked B, Cross LA, Sullivan B, Raas-Rothschild A, Chorin O, Barel O, Bar-Yosef O, Husami A, Hopkin RJ, Prada CE, Stottmann RW, Weaver KN. Baker EK, et al. Among authors: husami a. Am J Med Genet A. 2022 Nov;188(11):3262-3277. doi: 10.1002/ajmg.a.62946. Epub 2022 Aug 15. Am J Med Genet A. 2022. PMID: 36209351
33 results