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A murine model of hnRNPH2-related neurodevelopmental disorder reveals a mechanism for genetic compensation by Hnrnph1.
Korff A, Yang X, O'Donovan K, Gonzalez A, Teubner BJ, Nakamura H, Messing J, Yang F, Carisey AF, Wang YD, Patni T, Sheppard H, Zakharenko SS, Chook YM, Taylor JP, Kim HJ. Korff A, et al. Among authors: o donovan k. J Clin Invest. 2024 Apr 15;134(8):e181331. doi: 10.1172/JCI181331. J Clin Invest. 2024. PMID: 38618962 Free PMC article. No abstract available.
A Method for Variant Agnostic Detection of SARS-CoV-2, Rapid Monitoring of Circulating Variants, and Early Detection of Emergent Variants Such as Omicron.
Lai E, Kennedy EB, Lozach J, Hayashibara K, Davis-Turak J, Becker D, Brzoska P, Cassens T, Diamond E, Gandhi M, Greninger AL, Hajian P, Leonetti NA, Nguyen JM, O'Donovan KMC, Peck T, Ramirez JM 3rd, Roychoudhury P, Sandoval E, Wesselman C, Wesselman T, White S, Williams S, Wong D, Yu Y, Creager RS. Lai E, et al. Among authors: o donovan kmc. J Clin Microbiol. 2022 Jul 20;60(7):e0034222. doi: 10.1128/jcm.00342-22. Epub 2022 Jun 29. J Clin Microbiol. 2022. PMID: 35766514 Free PMC article.
Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy.
Kim HJ, Mohassel P, Donkervoort S, Guo L, O'Donovan K, Coughlin M, Lornage X, Foulds N, Hammans SR, Foley AR, Fare CM, Ford AF, Ogasawara M, Sato A, Iida A, Munot P, Ambegaonkar G, Phadke R, O'Donovan DG, Buchert R, Grimmel M, Töpf A, Zaharieva IT, Brady L, Hu Y, Lloyd TE, Klein A, Steinlin M, Kuster A, Mercier S, Marcorelles P, Péréon Y, Fleurence E, Manzur A, Ennis S, Upstill-Goddard R, Bello L, Bertolin C, Pegoraro E, Salviati L, French CE, Shatillo A, Raymond FL, Haack TB, Quijano-Roy S, Böhm J, Nelson I, Stojkovic T, Evangelista T, Straub V, Romero NB, Laporte J, Muntoni F, Nishino I, Tarnopolsky MA, Shorter J, Bönnemann CG, Taylor JP. Kim HJ, et al. Among authors: o donovan k. Nat Commun. 2022 Apr 28;13(1):2306. doi: 10.1038/s41467-022-30015-1. Nat Commun. 2022. PMID: 35484142 Free PMC article.
Characterization of HNRNPA1 mutations defines diversity in pathogenic mechanisms and clinical presentation.
Beijer D, Kim HJ, Guo L, O'Donovan K, Mademan I, Deconinck T, Van Schil K, Fare CM, Drake LE, Ford AF, Kochański A, Kabzińska D, Dubuisson N, Van den Bergh P, Voermans NC, Lemmers RJ, van der Maarel SM, Bonner D, Sampson JB, Wheeler MT, Mehrabyan A, Palmer S, De Jonghe P, Shorter J, Taylor JP, Baets J. Beijer D, et al. Among authors: o donovan k. JCI Insight. 2021 Jul 22;6(14):e148363. doi: 10.1172/jci.insight.148363. JCI Insight. 2021. PMID: 34291734 Free PMC article.
86 results