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Page 1
Genetic control of mRNA splicing as a potential mechanism for incomplete penetrance of rare coding variants.
Einson J, Glinos D, Boerwinkle E, Castaldi P, Darbar D, de Andrade M, Ellinor P, Fornage M, Gabriel S, Germer S, Gibbs R, Hersh CP, Johnsen J, Kaplan R, Konkle BA, Kooperberg C, Nassir R, Loos RJF, Meyers DA, Mitchell BD, Psaty B, Vasan RS, Rich SS, Rienstra M, Rotter JI, Saferali A, Shoemaker MB, Silverman E, Smith AV; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium; Mohammadi P, Castel SE, Iossifov I, Lappalainen T. Einson J, et al. Among authors: saferali a. Genetics. 2023 Aug 9;224(4):iyad115. doi: 10.1093/genetics/iyad115. Genetics. 2023. PMID: 37348055
JAK1 gain-of-function causes an autosomal dominant immune dysregulatory and hypereosinophilic syndrome.
Del Bel KL, Ragotte RJ, Saferali A, Lee S, Vercauteren SM, Mostafavi SA, Schreiber RA, Prendiville JS, Phang MS, Halparin J, Au N, Dean JM, Priatel JJ, Jewels E, Junker AK, Rogers PC, Seear M, McKinnon ML, Turvey SE. Del Bel KL, et al. Among authors: saferali a. J Allergy Clin Immunol. 2017 Jun;139(6):2016-2020.e5. doi: 10.1016/j.jaci.2016.12.957. Epub 2017 Jan 19. J Allergy Clin Immunol. 2017. PMID: 28111307 No abstract available.
Blood eosinophil count thresholds and exacerbations in patients with chronic obstructive pulmonary disease.
Yun JH, Lamb A, Chase R, Singh D, Parker MM, Saferali A, Vestbo J, Tal-Singer R, Castaldi PJ, Silverman EK, Hersh CP; COPDGene and ECLIPSE Investigators. Yun JH, et al. Among authors: saferali a. J Allergy Clin Immunol. 2018 Jun;141(6):2037-2047.e10. doi: 10.1016/j.jaci.2018.04.010. Epub 2018 Apr 28. J Allergy Clin Immunol. 2018. PMID: 29709670 Free PMC article.
Genomics and response to long-term oxygen therapy in chronic obstructive pulmonary disease.
Seo M, Qiu W, Bailey W, Criner GJ, Dransfield MT, Fuhlbrigge AL, Reilly JJ, Scholand MB, Castaldi P, Chase R, Parker M, Saferali A, Yun JH, Crapo JD, Cho MH, Beaty TH, Silverman EK, Hersh CP. Seo M, et al. Among authors: saferali a. J Mol Med (Berl). 2018 Dec;96(12):1375-1385. doi: 10.1007/s00109-018-1708-8. Epub 2018 Oct 23. J Mol Med (Berl). 2018. PMID: 30353303 Free PMC article. Clinical Trial.
45 results