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Reanalysis of Clinical Exome Sequencing Data.
N Engl J Med. 2019 Jun 20;380(25):2478-2480. doi: 10.1056/NEJMc1812033.
N Engl J Med. 2019.
PMID: 31216405
Free PMC article.
No abstract available.
Clinical Exome Studies Have Inconsistent Coverage.
Gotway G, Crossley E, Kozlitina J, Xing C, Fan J, Hornbuckle C, Thies J, Michel D, Quinn C, Scheuerle AE, Umana LA, Uhles CL, Park JY.
Gotway G, et al. Among authors: uhles cl.
Clin Chem. 2020 Jan 1;66(1):199-206. doi: 10.1093/clinchem.2019.306795.
Clin Chem. 2020.
PMID: 32609854
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Second instance of co-occurring 22q11.2 deletion syndrome and Williams syndrome.
Uhles CL, Barnes S, Uddin N, Umaña LA.
Uhles CL, et al.
Am J Med Genet A. 2021 Dec;185(12):3821-3824. doi: 10.1002/ajmg.a.62419. Epub 2021 Jul 8.
Am J Med Genet A. 2021.
PMID: 34235868
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Clinical, biochemical and genetic characteristics of MOGS-CDG: a rare congenital disorder of glycosylation.
Shimada S, Ng BG, White AL, Nickander KK, Turgeon C, Liedtke KL, Lam CT, Font-Montgomery E, Lourenco CM, He M, Peck DS, Umana LA, Uhles CL, Haynes D, Wheeler PG, Bamshad MJ, Nickerson DA, Cushing T, Gates R, Gomez-Ospina N, Byers HM; UW Center for Mendelian Genomics; Scalco FB, Martinez NN, Sachdev R, Smith L, Poduri A, Malone S, Harris RV, Scheffer IE, Rosenzweig SD, Adams DR, Gahl WA, Malicdan MCV, Raymond KM, Freeze HH, Wolfe LA.
Shimada S, et al. Among authors: uhles cl.
J Med Genet. 2022 Jul 5:jmedgenet-2021-108177. doi: 10.1136/jmedgenet-2021-108177. Online ahead of print.
J Med Genet. 2022.
PMID: 35790351
Free PMC article.
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Access to clinically indicated genetic tests for pediatric patients with Medicaid: Evidence from outpatient genetics clinics in Texas.
Streff H, Uhles CL, Fisher H, Franciskovich R, Littlejohn RO, Gerard A, Hudnall J, Smith HS.
Streff H, et al. Among authors: uhles cl.
Genet Med. 2023 Mar;25(3):100350. doi: 10.1016/j.gim.2022.11.018. Epub 2022 Dec 6.
Genet Med. 2023.
PMID: 36547467
Free article.
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