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Genomic answers for children: Dynamic analyses of >1000 pediatric rare disease genomes.
Genet Med. 2022 Jun;24(6):1336-1348. doi: 10.1016/j.gim.2022.02.007. Epub 2022 Mar 16.
Genet Med. 2022.
PMID: 35305867
Free article.
Insurance denials and diagnostic rates in a pediatric genomic research cohort.
Zion TN, Berrios CD, Cohen ASA, Bartik L, Cross LA, Engleman KL, Fleming EA, Gadea RN, Hughes SS, Jenkins JL, Kussmann J, Lawson C, Schwager C, Strenk ME, Welsh H, Rush ET, Amudhavalli SM, Sullivan BR, Zhou D, Gannon JL, Heese BA, Moore R, Boillat E, Biswell RL, Louiselle DA, Puckett LMB, Beyer S, Neal SH, Sierant V, McBeth M, Belden B, Walter AM, Gibson M, Cheung WA, Johnston JJ, Thiffault I, Farrow EG, Grundberg E, Pastinen T.
Zion TN, et al.
Genet Med. 2023 May;25(5):100020. doi: 10.1016/j.gim.2023.100020. Epub 2023 Jan 28.
Genet Med. 2023.
PMID: 36718845
Free PMC article.
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Direct haplotype-resolved 5-base HiFi sequencing for genome-wide profiling of hypermethylation outliers in a rare disease cohort.
Cheung WA, Johnson AF, Rowell WJ, Farrow E, Hall R, Cohen ASA, Means JC, Zion TN, Portik DM, Saunders CT, Koseva B, Bi C, Truong TK, Schwendinger-Schreck C, Yoo B, Johnston JJ, Gibson M, Evrony G, Rizzo WB, Thiffault I, Younger ST, Curran T, Wenger AM, Grundberg E, Pastinen T.
Cheung WA, et al. Among authors: zion tn.
Nat Commun. 2023 May 29;14(1):3090. doi: 10.1038/s41467-023-38782-1.
Nat Commun. 2023.
PMID: 37248219
Free PMC article.
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Comparing Attitudes About Genomic Privacy and Data Sharing in Adolescents and Parents of Children Enrolled in a Genomic Research Repository.
Berrios C, Neal S, Zion T, Pastinen T.
Berrios C, et al.
AJOB Empir Bioeth. 2024;15(1):33-40. doi: 10.1080/23294515.2023.2232780. Epub 2023 Jul 24.
AJOB Empir Bioeth. 2024.
PMID: 37487180
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Genomic Answers for Kids: Toward more equitable access to genomic testing for rare diseases in rural populations.
Cohen ASA, Berrios CD, Zion TN, Barrett CM, Moore R, Boillat E, Belden B, Farrow EG, Thiffault I, Zuccarelli BD, Pastinen T.
Cohen ASA, et al. Among authors: zion tn.
Am J Hum Genet. 2024 May 2;111(5):825-832. doi: 10.1016/j.ajhg.2024.03.016. Epub 2024 Apr 17.
Am J Hum Genet. 2024.
PMID: 38636509
Review.
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Clinical validity assessment of genes for inclusion in multi-gene panel testing: A systematic approach.
Zion TN, Wayburn B, Darabi S, Lamb Thrush D, Smith ED, Johnston T, Martin B, Hagman KDF, Parra M, Antolik C.
Zion TN, et al.
Mol Genet Genomic Med. 2019 May;7(5):e630. doi: 10.1002/mgg3.630. Epub 2019 Mar 21.
Mol Genet Genomic Med. 2019.
PMID: 30900393
Free PMC article.
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