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Year Number of Results
2018 2
2019 10
2020 6
2021 12
2022 7
2023 4
2024 3

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39 results

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Integration of transcriptomics and long-read genomics prioritizes structural variants in rare disease.
Jensen TD, Ni B, Reuter CM, Gorzynski JE, Fazal S, Bonner D, Ungar RA, Goddard PC, Raja A, Ashley EA, Bernstein JA, Zuchner S; Undiagnosed Diseases Network; Greicius MD, Montgomery SB, Schatz MC, Wheeler MT, Battle A. Jensen TD, et al. medRxiv [Preprint]. 2024 Mar 26:2024.03.22.24304565. doi: 10.1101/2024.03.22.24304565. medRxiv. 2024. PMID: 38585781 Free PMC article. Preprint.
Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy.
Donkervoort S, Mohassel P, O'Leary M, Bonner DE, Hartley T, Acquaye N, Brull A, Mozaffar T, Saporta MA, Dyment DA, Sampson JB, Pajusalu S, Austin-Tse C, Hurth K, Cohen JS, McWalter K, Warman-Chardon J, Crunk A, Foley AR; Undiagnosed Diseases Network; Mammen AL, Wheeler MT, O'Donnell-Luria A, Bönnemann CG. Donkervoort S, et al. Ann Clin Transl Neurol. 2024 Mar;11(3):629-640. doi: 10.1002/acn3.51983. Epub 2024 Feb 4. Ann Clin Transl Neurol. 2024. PMID: 38311799 Free PMC article.
Impact of genome build on RNA-seq interpretation and diagnostics.
Ungar RA, Goddard PC, Jensen TD, Degalez F, Smith KS, Jin CA; Undiagnosed Diseases Network; Bonner DE, Bernstein JA, Wheeler MT, Montgomery SB. Ungar RA, et al. medRxiv [Preprint]. 2024 Jan 12:2024.01.11.24301165. doi: 10.1101/2024.01.11.24301165. medRxiv. 2024. PMID: 38260490 Free PMC article. Preprint.
Wnt Signaling Interactor WTIP (Wilms Tumor Interacting Protein) Underlies Novel Mechanism for Cardiac Hypertrophy.
De Jong HN, Dewey FE, Cordero P, Victorio RA, Kirillova A, Huang Y, Madhvani R, Seo K, Werdich AA, Lan F, Orcholski M, Liu WR, Erbilgin A, Wheeler MT, Chen R, Pan S, Kim YM, Bommakanti K, Marcou CA, Bos JM, Haddad F, Ackerman M, Vasan RS, MacRae C, Wu JC, de Jesus Perez V, Snyder M, Parikh VN, Ashley EA. De Jong HN, et al. Circ Genom Precis Med. 2022 Aug;15(4):e003563. doi: 10.1161/CIRCGEN.121.003563. Epub 2022 Jun 7. Circ Genom Precis Med. 2022. PMID: 35671065 Free PMC article.
39 results