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Evaluation of the diagnostic accuracy of exome sequencing and its impact on diagnostic thinking for patients with rare disease in a publicly funded health care system: A prospective cohort study.
Genet Med. 2024 Feb;26(2):101012. doi: 10.1016/j.gim.2023.101012. Epub 2023 Nov 1.
Genet Med. 2024.
PMID: 37924259
Preprinting is positively associated with early career researcher status in ecology and evolution.
Wolf JF, MacKay L, Haworth SE, Cossette ML, Dedato MN, Young KB, Elliott CI, Oomen RA.
Wolf JF, et al. Among authors: mackay l.
Ecol Evol. 2021 Sep 21;11(20):13624-13632. doi: 10.1002/ece3.8106. eCollection 2021 Oct.
Ecol Evol. 2021.
PMID: 34707804
Free PMC article.
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Long-read genome sequencing reveals a novel intronic retroelement insertion in NR5A1 associated with 46,XY differences of sexual development.
Del Gobbo GF, Wang X, Couse M, Mackay L, Goldsmith C, Marshall AE, Liang Y, Lambert C, Zhang S, Dhillon H, Fanslow C, Rowell WJ; Care4Rare Canada Consortium; Marshall CR, Kernohan KD, Boycott KM.
Del Gobbo GF, et al. Among authors: mackay l.
Am J Med Genet A. 2024 May;194(5):e63522. doi: 10.1002/ajmg.a.63522. Epub 2023 Dec 22.
Am J Med Genet A. 2024.
PMID: 38131126
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