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Page 1
Curated variation benchmarks for challenging medically relevant autosomal genes.
Wagner J, Olson ND, Harris L, McDaniel J, Cheng H, Fungtammasan A, Hwang YC, Gupta R, Wenger AM, Rowell WJ, Khan ZM, Farek J, Zhu Y, Pisupati A, Mahmoud M, Xiao C, Yoo B, Sahraeian SME, Miller DE, Jáspez D, Lorenzo-Salazar JM, Muñoz-Barrera A, Rubio-Rodríguez LA, Flores C, Narzisi G, Evani US, Clarke WE, Lee J, Mason CE, Lincoln SE, Miga KH, Ebbert MTW, Shumate A, Li H, Chin CS, Zook JM, Sedlazeck FJ. Wagner J, et al. Among authors: ebbert mtw. Nat Biotechnol. 2022 May;40(5):672-680. doi: 10.1038/s41587-021-01158-1. Epub 2022 Feb 7. Nat Biotechnol. 2022. PMID: 35132260 Free PMC article.
Mapping medically relevant RNA isoform diversity in the aged human frontal cortex with deep long-read RNA-seq.
Aguzzoli Heberle B, Brandon JA, Page ML, Nations KA, Dikobe KI, White BJ, Gordon LA, Fox GA, Wadsworth ME, Doyle PH, Williams BA, Fox EJ, Shantaraman A, Ryten M, Goodwin S, Ghiban E, Wappel R, Mavruk-Eskipehlivan S, Miller JB, Seyfried NT, Nelson PT, Fryer JD, Ebbert MTW. Aguzzoli Heberle B, et al. Among authors: ebbert mtw. Nat Biotechnol. 2024 May 22. doi: 10.1038/s41587-024-02245-9. Online ahead of print. Nat Biotechnol. 2024. PMID: 38778214
Systematic analysis of dark and camouflaged genes reveals disease-relevant genes hiding in plain sight.
Ebbert MTW, Jensen TD, Jansen-West K, Sens JP, Reddy JS, Ridge PG, Kauwe JSK, Belzil V, Pregent L, Carrasquillo MM, Keene D, Larson E, Crane P, Asmann YW, Ertekin-Taner N, Younkin SG, Ross OA, Rademakers R, Petrucelli L, Fryer JD. Ebbert MTW, et al. Genome Biol. 2019 May 20;20(1):97. doi: 10.1186/s13059-019-1707-2. Genome Biol. 2019. PMID: 31104630 Free PMC article.
Long-read sequencing across the C9orf72 'GGGGCC' repeat expansion: implications for clinical use and genetic discovery efforts in human disease.
Ebbert MTW, Farrugia SL, Sens JP, Jansen-West K, Gendron TF, Prudencio M, McLaughlin IJ, Bowman B, Seetin M, DeJesus-Hernandez M, Jackson J, Brown PH, Dickson DW, van Blitterswijk M, Rademakers R, Petrucelli L, Fryer JD. Ebbert MTW, et al. Mol Neurodegener. 2018 Aug 21;13(1):46. doi: 10.1186/s13024-018-0274-4. Mol Neurodegener. 2018. PMID: 30126445 Free PMC article.
Long-read targeted sequencing uncovers clinicopathological associations for C9orf72-linked diseases.
DeJesus-Hernandez M, Aleff RA, Jackson JL, Finch NA, Baker MC, Gendron TF, Murray ME, McLaughlin IJ, Harting JR, Graff-Radford NR, Oskarsson B, Knopman DS, Josephs KA, Boeve BF, Petersen RC, Fryer JD, Petrucelli L, Dickson DW, Rademakers R, Ebbert MTW, Wieben ED, van Blitterswijk M. DeJesus-Hernandez M, et al. Among authors: ebbert mtw. Brain. 2021 May 7;144(4):1082-1088. doi: 10.1093/brain/awab006. Brain. 2021. PMID: 33889947 Free PMC article.
Pairwise Correlation Analysis of the Alzheimer's Disease Neuroimaging Initiative (ADNI) Dataset Reveals Significant Feature Correlation.
Huckvale ED, Hodgman MW, Greenwood BB, Stucki DO, Ward KM, Ebbert MTW, Kauwe JSK, The Alzheimer's Disease Neuroimaging Initiative, The Alzheimer's Disease Metabolomics Consortium, Miller JB. Huckvale ED, et al. Among authors: ebbert mtw. Genes (Basel). 2021 Oct 21;12(11):1661. doi: 10.3390/genes12111661. Genes (Basel). 2021. PMID: 34828267 Free PMC article.
Genetics of Alzheimer's disease.
Ridge PG, Ebbert MT, Kauwe JS. Ridge PG, et al. Biomed Res Int. 2013;2013:254954. doi: 10.1155/2013/254954. Epub 2013 Jul 25. Biomed Res Int. 2013. PMID: 23984328 Free PMC article. Review.
53 results