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Page 1
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: urraca n. Am J Hum Genet. 2024 Jun 3:S0002-9297(24)00169-1. doi: 10.1016/j.ajhg.2024.05.006. Online ahead of print. Am J Hum Genet. 2024. PMID: 38843839 Free 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: urraca n. 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.
HIV Prevention for Black Heterosexual Men: The Barbershop Talk with Brothers Cluster Randomized Trial.
Wilson TE, Gousse Y, Joseph MA, Browne RC, Camilien B, McFarlane D, Mitchell S, Brown H, Urraca N, Romeo D, Johnson S, Salifu M, Stewart M, Vavagiakis P, Fraser M. Wilson TE, et al. Among authors: urraca n. Am J Public Health. 2019 Aug;109(8):1131-1137. doi: 10.2105/AJPH.2019.305121. Epub 2019 Jun 20. Am J Public Health. 2019. PMID: 31219715 Free PMC article. Clinical Trial.
Lessons Learned from the Implementation of a Shared Community-Academic HIV Prevention Intervention.
Gousse Y, McFarlane D, Fraser M, Joseph M, Alli B, Council-George M, Fraser H, Romeo D, Urraca N, Wellington P, Stewart M, Browne RC, Salifu MO, Vavagiakis P, Wilson TE. Gousse Y, et al. Among authors: urraca n. Prog Community Health Partnersh. 2018;12(4):451-461. doi: 10.1353/cpr.2018.0070. Prog Community Health Partnersh. 2018. PMID: 30739899 Free PMC article.
Identification of novel candidate disease genes from de novo exonic copy number variants.
Gambin T, Yuan B, Bi W, Liu P, Rosenfeld JA, Coban-Akdemir Z, Pursley AN, Nagamani SCS, Marom R, Golla S, Dengle L, Petrie HG, Matalon R, Emrick L, Proud MB, Treadwell-Deering D, Chao HT, Koillinen H, Brown C, Urraca N, Mostafavi R, Bernes S, Roeder ER, Nugent KM, Bader PI, Bellus G, Cummings M, Northrup H, Ashfaq M, Westman R, Wildin R, Beck AE, Immken L, Elton L, Varghese S, Buchanan E, Faivre L, Lefebvre M, Schaaf CP, Walkiewicz M, Yang Y, Kang SL, Lalani SR, Bacino CA, Beaudet AL, Breman AM, Smith JL, Cheung SW, Lupski JR, Patel A, Shaw CA, Stankiewicz P. Gambin T, et al. Among authors: urraca n. Genome Med. 2017 Sep 21;9(1):83. doi: 10.1186/s13073-017-0472-7. Genome Med. 2017. PMID: 28934986 Free PMC article.
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