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Year Number of Results
2008 1
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2011 3
2012 2
2013 2
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2019 2
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Page 1
Estimated Prevalence and Clinical Manifestations of UBA1 Variants Associated With VEXAS Syndrome in a Clinical Population.
Beck DB, Bodian DL, Shah V, Mirshahi UL, Kim J, Ding Y, Magaziner SJ, Strande NT, Cantor A, Haley JS, Cook A, Hill W, Schwartz AL, Grayson PC, Ferrada MA, Kastner DL, Carey DJ, Stewart DR. Beck DB, et al. Among authors: mirshahi ul. JAMA. 2023 Jan 24;329(4):318-324. doi: 10.1001/jama.2022.24836. JAMA. 2023. PMID: 36692560 Free PMC article.
Reduced penetrance of MODY-associated HNF1A/HNF4A variants but not GCK variants in clinically unselected cohorts.
Mirshahi UL, Colclough K, Wright CF, Wood AR, Beaumont RN, Tyrrell J, Laver TW, Stahl R, Golden A, Goehringer JM; Geisinger-Regeneron DiscovEHR Collaboration; Frayling TF, Hattersley AT, Carey DJ, Weedon MN, Patel KA. Mirshahi UL, et al. Am J Hum Genet. 2022 Nov 3;109(11):2018-2028. doi: 10.1016/j.ajhg.2022.09.014. Epub 2022 Oct 17. Am J Hum Genet. 2022. PMID: 36257325 Free PMC article.
A Protein-Truncating HSD17B13 Variant and Protection from Chronic Liver Disease.
Abul-Husn NS, Cheng X, Li AH, Xin Y, Schurmann C, Stevis P, Liu Y, Kozlitina J, Stender S, Wood GC, Stepanchick AN, Still MD, McCarthy S, O'Dushlaine C, Packer JS, Balasubramanian S, Gosalia N, Esopi D, Kim SY, Mukherjee S, Lopez AE, Fuller ED, Penn J, Chu X, Luo JZ, Mirshahi UL, Carey DJ, Still CD, Feldman MD, Small A, Damrauer SM, Rader DJ, Zambrowicz B, Olson W, Murphy AJ, Borecki IB, Shuldiner AR, Reid JG, Overton JD, Yancopoulos GD, Hobbs HH, Cohen JC, Gottesman O, Teslovich TM, Baras A, Mirshahi T, Gromada J, Dewey FE. Abul-Husn NS, et al. Among authors: mirshahi ul. N Engl J Med. 2018 Mar 22;378(12):1096-1106. doi: 10.1056/NEJMoa1712191. N Engl J Med. 2018. PMID: 29562163 Free PMC article.
Genome-first approach of the prevalence and cancer phenotypes of pathogenic or likely pathogenic germline TP53 variants.
de Andrade KC, Strande NT, Kim J, Haley JS, Hatton JN, Frone MN, Khincha PP, Thone GM, Mirshahi UL, Schneider C, Desai H, Dove JT, Smelser DT; Penn Medicine BioBank; Regeneron Genetics Center; Levine AJ, Maxwell KN, Stewart DR, Carey DJ, Savage SA. de Andrade KC, et al. Among authors: mirshahi ul. HGG Adv. 2024 Jan 11;5(1):100242. doi: 10.1016/j.xhgg.2023.100242. Epub 2023 Sep 29. HGG Adv. 2024. PMID: 37777824 Free PMC article.
Mutations in NPC1L1 and coronary heart disease.
Mirshahi UL, Carey DJ. Mirshahi UL, et al. N Engl J Med. 2015 Feb 26;372(9):881. doi: 10.1056/NEJMc1500124. N Engl J Med. 2015. PMID: 25714173 Free article. No abstract available.
A Genome-First Approach to Characterize DICER1 Pathogenic Variant Prevalence, Penetrance, and Phenotype.
Mirshahi UL, Kim J, Best AF, Chen ZE, Hu Y, Haley JS, Golden A, Stahl R, Manickam K, Carr AG, Harney LA, Field A, Hatton J, Schultz KAP, Bauer AJ, Hill DA, Rosenberg PS, Murray MF, Carey DJ, Stewart DR. Mirshahi UL, et al. JAMA Netw Open. 2021 Feb 1;4(2):e210112. doi: 10.1001/jamanetworkopen.2021.0112. JAMA Netw Open. 2021. PMID: 33630087 Free PMC article.
Framework From a Multidisciplinary Approach for Transitioning Variants of Unknown Significance From Clinical Genetic Testing in Kidney Disease to a Definitive Classification.
Mirshahi UL, Bhan A, Tholen LE, Fang B, Chen G, Moore B, Cook A, Anand PM, Patel K, Haas ME, Lotta LA, Igarashi P, de Baaij JHF, Ferrè S, Hoenderop JGJ, Carey DJ, Chang AR. Mirshahi UL, et al. Kidney Int Rep. 2022 Jul 7;7(9):2047-2058. doi: 10.1016/j.ekir.2022.06.014. eCollection 2022 Sep. Kidney Int Rep. 2022. PMID: 36090499 Free PMC article.
Functional Invalidation of Putative Sudden Infant Death Syndrome-Associated Variants in the KCNH2-Encoded Kv11.1 Channel.
Smith JL, Tester DJ, Hall AR, Burgess DE, Hsu CC, Elayi SC, Anderson CL, January CT, Luo JZ, Hartzel DN, Mirshahi UL, Murray MF, Mirshahi T, Ackerman MJ, Delisle BP. Smith JL, et al. Among authors: mirshahi ul. Circ Arrhythm Electrophysiol. 2018 May;11(5):e005859. doi: 10.1161/CIRCEP.117.005859. Circ Arrhythm Electrophysiol. 2018. PMID: 29752375
21 results