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Secondary (additional) findings from the 100,000 Genomes Project: Disease manifestation, health care outcomes, and costs of disclosure.
Genet Med. 2024 Mar;26(3):101051. doi: 10.1016/j.gim.2023.101051. Epub 2023 Dec 19.
Genet Med. 2024.
PMID: 38131308
Free article.
A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories.
Akimoto C, Volk AE, van Blitterswijk M, Van den Broeck M, Leblond CS, Lumbroso S, Camu W, Neitzel B, Onodera O, van Rheenen W, Pinto S, Weber M, Smith B, Proven M, Talbot K, Keagle P, Chesi A, Ratti A, van der Zee J, Alstermark H, Birve A, Calini D, Nordin A, Tradowsky DC, Just W, Daoud H, Angerbauer S, DeJesus-Hernandez M, Konno T, Lloyd-Jani A, de Carvalho M, Mouzat K, Landers JE, Veldink JH, Silani V, Gitler AD, Shaw CE, Rouleau GA, van den Berg LH, Van Broeckhoven C, Rademakers R, Andersen PM, Kubisch C.
Akimoto C, et al. Among authors: lloyd jani a.
J Med Genet. 2014 Jun;51(6):419-24. doi: 10.1136/jmedgenet-2014-102360. Epub 2014 Apr 4.
J Med Genet. 2014.
PMID: 24706941
Free PMC article.
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Segmental paternal uniparental disomy of chromosome 14 in a 4-year-old boy.
Harrison V, Hurst J, Lloyd-Jani A, Lester T, Lever M, Man S, O'Rourke A, Robinson D, Tabiner M, Williams R, Kini U.
Harrison V, et al. Among authors: lloyd jani a.
Clin Dysmorphol. 2012 Oct;21(4):208-211. doi: 10.1097/MCD.0b013e328356da42.
Clin Dysmorphol. 2012.
PMID: 22797553
No abstract available.
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