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1955 1
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2006 3
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80 results

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Page 1
Best practices for the interpretation and reporting of clinical whole genome sequencing.
Austin-Tse CA, Jobanputra V, Perry DL, Bick D, Taft RJ, Venner E, Gibbs RA, Young T, Barnett S, Belmont JW, Boczek N, Chowdhury S, Ellsworth KA, Guha S, Kulkarni S, Marcou C, Meng L, Murdock DR, Rehman AU, Spiteri E, Thomas-Wilson A, Kearney HM, Rehm HL; Medical Genome Initiative*. Austin-Tse CA, et al. Among authors: perry dl. NPJ Genom Med. 2022 Apr 8;7(1):27. doi: 10.1038/s41525-022-00295-z. NPJ Genom Med. 2022. PMID: 35395838 Free PMC article. Review.
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.
The impact of clinical genome sequencing in a global population with suspected rare genetic disease.
Thorpe E, Williams T, Shaw C, Chekalin E, Ortega J, Robinson K, Button J, Jones MC, Campo MD, Basel D, McCarrier J, Keppen LD, Royer E, Foster-Bonds R, Duenas-Roque MM, Urraca N, Bosfield K, Brown CW, Lydigsen H, Mroczkowski HJ, Ward J, Sirchia F, Giorgio E, Vaux K, Salguero HP, Lumaka A, Mubungu G, Makay P, Ngole M, Lukusa PT, Vanderver A, Muirhead K, Sherbini O, Lah MD, Anderson K, Bazalar-Montoya J, Rodriguez RS, Cornejo-Olivas M, Milla-Neyra K, Shinawi M, Magoulas P, Henry D, Gibson K, Wiafe S, Jayakar P, Salyakina D, Masser-Frye D, Serize A, Perez JE, Taylor A, Shenbagam S, Abou Tayoun A, Malhotra A, Bennett M, Rajan V, Avecilla J, Warren A, Arseneault M, Kalista T, Crawford A, Ajay SS, Perry DL, Belmont J, Taft RJ. Thorpe E, et al. Among authors: perry dl. Am J Hum Genet. 2024 Jul 11;111(7):1271-1281. doi: 10.1016/j.ajhg.2024.05.006. Epub 2024 Jun 5. Am J Hum Genet. 2024. PMID: 38843839 Free PMC article.
Characterization of therapeutic antibody efficacy against multiple SARS-CoV-2 variants in the hamster model.
Cong Y, Dixit S, Perry DL, Huzella LM, Kollins E, Byrum R, Anthony SM, Drawbaugh D, Lembirik S, Postnikova E, Eaton B, Murphy M, Kocher G, Hadley K, Marketon AE, Bernbaum RM, Hischak AMW, Hart R, Vaughan N, Wada J, Qin J, St Claire MC, Schmaljohn CS, Holbrook MR. Cong Y, et al. Among authors: perry dl. Antiviral Res. 2024 Oct;230:105987. doi: 10.1016/j.antiviral.2024.105987. Epub 2024 Aug 13. Antiviral Res. 2024. PMID: 39147143 Free article.
Evaluation of a panel of therapeutic antibody clinical candidates for efficacy against SARS-CoV-2 in Syrian hamsters.
Cong Y, Mucker EM, Perry DL, Dixit S, Kollins E, Byrum R, Huzella L, Kim R, Josleyn M, Kwilas S, Stefan C, Shoemaker CJ, Koehler J, Coyne S, Delp K, Liang J, Drawbaugh D, Hischak A, Hart R, Postnikova E, Vaughan N, Asher J, St Claire M, Hanson J, Schmaljohn C, Eakin AE, Hooper JW, Holbrook MR. Cong Y, et al. Among authors: perry dl. Antiviral Res. 2023 May;213:105589. doi: 10.1016/j.antiviral.2023.105589. Epub 2023 Mar 30. Antiviral Res. 2023. PMID: 37003305 Free PMC article.
Multiple molecular diagnoses identified through genome sequencing in individuals with suspected rare disease.
Malhotra A, Thorpe E, Coffey AJ, Rajkumar R, Adjeman J, Naa Adjeley Adjetey ND, Aglobitse S, Allotey F, Arsov T, Ashong J, Badoe EV, Basel D, Brew Y, Brown C, Bosfield K, Casas K, Cornejo-Olivas M, Davis-Keppen L, Freed A, Gibson K, Jayakar P, Jones MC, Kawome M, Lumaka A, Maier U, Makay P, Manassero G, Marbell-Wilson M, Marcuccilli C, Masser-Frye D, McCarrier J, Mills HS, Montoya JB, Mubungu G, Ngole M, Perez J, Pivnick E, Duenas-Roque MM, Pena Salguero H, Serize A, Shinawi M, Sirchia F, Soler-Alfonso C, Taylor A, Thompson L, Vance G, Vanderver A, Vaux K, Velasco D, Wiafe S; Illumina Laboratory Services Interpretation and Reporting Team; Taft RJ, Perry DL, Kesari A. Malhotra A, et al. Among authors: perry dl. HGG Adv. 2025 Jul 10;6(3):100430. doi: 10.1016/j.xhgg.2025.100430. Epub 2025 Apr 7. HGG Adv. 2025. PMID: 40195116 Free PMC article.
80 results