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Year Number of Results
2008 1
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2011 3
2012 3
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19 results

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Page 1
Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study.
Ibañez K, Polke J, Hagelstrom RT, Dolzhenko E, Pasko D, Thomas ERA, Daugherty LC, Kasperaviciute D, Smith KR; WGS for Neurological Diseases Group; Deans ZC, Hill S, Fowler T, Scott RH, Hardy J, Chinnery PF, Houlden H, Rendon A, Caulfield MJ, Eberle MA, Taft RJ, Tucci A; Genomics England Research Consortium. Ibañez K, et al. Lancet Neurol. 2022 Mar;21(3):234-245. doi: 10.1016/S1474-4422(21)00462-2. Lancet Neurol. 2022. PMID: 35182509 Free PMC article.
Cellular Therapy: Shafts of Light Emerging for COVID-19.
Jeyaraman M, Ranjan R, Kumar R, Arora A, Chaudhary D, Ajay SS, Jain R. Jeyaraman M, et al. Among authors: ajay ss. Stem Cell Investig. 2020 Jun 30;7:11. doi: 10.21037/sci-2020-022. eCollection 2020. Stem Cell Investig. 2020. PMID: 32695804 Free PMC article. Review.
Accurate and comprehensive sequencing of personal genomes.
Ajay SS, Parker SC, Abaan HO, Fajardo KV, Margulies EH. Ajay SS, et al. Genome Res. 2011 Sep;21(9):1498-505. doi: 10.1101/gr.123638.111. Epub 2011 Jul 19. Genome Res. 2011. PMID: 21771779 Free PMC article.
Detection of long repeat expansions from PCR-free whole-genome sequence data.
Dolzhenko E, van Vugt JJFA, Shaw RJ, Bekritsky MA, van Blitterswijk M, Narzisi G, Ajay SS, Rajan V, Lajoie BR, Johnson NH, Kingsbury Z, Humphray SJ, Schellevis RD, Brands WJ, Baker M, Rademakers R, Kooyman M, Tazelaar GHP, van Es MA, McLaughlin R, Sproviero W, Shatunov A, Jones A, Al Khleifat A, Pittman A, Morgan S, Hardiman O, Al-Chalabi A, Shaw C, Smith B, Neo EJ, Morrison K, Shaw PJ, Reeves C, Winterkorn L, Wexler NS; US–Venezuela Collaborative Research Group; Housman DE, Ng CW, Li AL, Taft RJ, van den Berg LH, Bentley DR, Veldink JH, Eberle MA. Dolzhenko E, et al. Among authors: ajay ss. Genome Res. 2017 Nov;27(11):1895-1903. doi: 10.1101/gr.225672.117. Epub 2017 Sep 8. Genome Res. 2017. PMID: 28887402 Free PMC article.
Rare Case of Undifferentiated Pleomorphic Sarcoma of the Right Parotid Gland Correlatively Demonstrated by 18F Fluorodeoxyglucose Positron Emission Tomography/Computed Tomography and Contrast-Enhanced Magnetic Resonance Imaging.
Rangan BKK, Israrahmed A, Ajay SS. Rangan BKK, et al. Among authors: ajay ss. Indian J Nucl Med. 2021 Oct-Dec;36(4):462-464. doi: 10.4103/ijnm.ijnm_19_21. Epub 2021 Dec 15. Indian J Nucl Med. 2021. PMID: 35125776 Free PMC article.
Copy-number variants in clinical genome sequencing: deployment and interpretation for rare and undiagnosed disease.
Gross AM, Ajay SS, Rajan V, Brown C, Bluske K, Burns NJ, Chawla A, Coffey AJ, Malhotra A, Scocchia A, Thorpe E, Dzidic N, Hovanes K, Sahoo T, Dolzhenko E, Lajoie B, Khouzam A, Chowdhury S, Belmont J, Roller E, Ivakhno S, Tanner S, McEachern J, Hambuch T, Eberle M, Hagelstrom RT, Bentley DR, Perry DL, Taft RJ. Gross AM, et al. Among authors: ajay ss. Genet Med. 2019 May;21(5):1121-1130. doi: 10.1038/s41436-018-0295-y. Epub 2018 Oct 8. Genet Med. 2019. PMID: 30293986 Free PMC article.
Effect of Whole-Genome Sequencing on the Clinical Management of Acutely Ill Infants With Suspected Genetic Disease: A Randomized Clinical Trial.
NICUSeq Study Group; Krantz ID, Medne L, Weatherly JM, Wild KT, Biswas S, Devkota B, Hartman T, Brunelli L, Fishler KP, Abdul-Rahman O, Euteneuer JC, Hoover D, Dimmock D, Cleary J, Farnaes L, Knight J, Schwarz AJ, Vargas-Shiraishi OM, Wigby K, Zadeh N, Shinawi M, Wambach JA, Baldridge D, Cole FS, Wegner DJ, Urraca N, Holtrop S, Mostafavi R, Mroczkowski HJ, Pivnick EK, Ward JC, Talati A, Brown CW, Belmont JW, Ortega JL, Robinson KD, Brocklehurst WT, Perry DL, Ajay SS, Hagelstrom RT, Bennett M, Rajan V, Taft RJ. NICUSeq Study Group, et al. Among authors: ajay ss. JAMA Pediatr. 2021 Dec 1;175(12):1218-1226. doi: 10.1001/jamapediatrics.2021.3496. JAMA Pediatr. 2021. PMID: 34570182 Free PMC article. Clinical Trial.
Mutational signatures of de-differentiation in functional non-coding regions of melanoma genomes.
Parker SC, Gartner J, Cardenas-Navia I, Wei X, Ozel Abaan H, Ajay SS, Hansen NF, Song L, Bhanot UK, Killian JK, Gindin Y, Walker RL, Meltzer PS, Mullikin JC, Furey TS, Crawford GE, Rosenberg SA, Samuels Y, Margulies EH. Parker SC, et al. Among authors: ajay ss. PLoS Genet. 2012;8(8):e1002871. doi: 10.1371/journal.pgen.1002871. Epub 2012 Aug 9. PLoS Genet. 2012. PMID: 22912592 Free PMC article.
19 results