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Page 1
Repeat expansions confer WRN dependence in microsatellite-unstable cancers.
van Wietmarschen N, Sridharan S, Nathan WJ, Tubbs A, Chan EM, Callen E, Wu W, Belinky F, Tripathi V, Wong N, Foster K, Noorbakhsh J, Garimella K, Cruz-Migoni A, Sommers JA, Huang Y, Borah AA, Smith JT, Kalfon J, Kesten N, Fugger K, Walker RL, Dolzhenko E, Eberle MA, Hayward BE, Usdin K, Freudenreich CH, Brosh RM Jr, West SC, McHugh PJ, Meltzer PS, Bass AJ, Nussenzweig A. van Wietmarschen N, et al. Among authors: dolzhenko e. Nature. 2020 Oct;586(7828):292-298. doi: 10.1038/s41586-020-2769-8. Epub 2020 Sep 30. Nature. 2020. PMID: 32999459 Free PMC article.
Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology.
van Rheenen W, van der Spek RAA, Bakker MK, van Vugt JJFA, Hop PJ, Zwamborn RAJ, de Klein N, Westra HJ, Bakker OB, Deelen P, Shireby G, Hannon E, Moisse M, Baird D, Restuadi R, Dolzhenko E, Dekker AM, Gawor K, Westeneng HJ, Tazelaar GHP, van Eijk KR, Kooyman M, Byrne RP, Doherty M, Heverin M, Al Khleifat A, Iacoangeli A, Shatunov A, Ticozzi N, Cooper-Knock J, Smith BN, Gromicho M, Chandran S, Pal S, Morrison KE, Shaw PJ, Hardy J, Orrell RW, Sendtner M, Meyer T, Başak N, van der Kooi AJ, Ratti A, Fogh I, Gellera C, Lauria G, Corti S, Cereda C, Sproviero D, D'Alfonso S, Sorarù G, Siciliano G, Filosto M, Padovani A, Chiò A, Calvo A, Moglia C, Brunetti M, Canosa A, Grassano M, Beghi E, Pupillo E, Logroscino G, Nefussy B, Osmanovic A, Nordin A, Lerner Y, Zabari M, Gotkine M, Baloh RH, Bell S, Vourc'h P, Corcia P, Couratier P, Millecamps S, Meininger V, Salachas F, Mora Pardina JS, Assialioui A, Rojas-García R, Dion PA, Ross JP, Ludolph AC, Weishaupt JH, Brenner D, Freischmidt A, Bensimon G, Brice A, Durr A, Payan CAM, Saker-Delye S, Wood NW, Topp S, Rademakers R, Tittmann L, Lieb W, Franke A, Ripke S, Braun A, Kraft J, Whiteman DC, Olsen CM, Uitterlinden AG, Hofman A, Rietschel … See abstract for full author list ➔ van Rheenen W, et al. Among authors: dolzhenko e. Nat Genet. 2021 Dec;53(12):1636-1648. doi: 10.1038/s41588-021-00973-1. Epub 2021 Dec 6. Nat Genet. 2021. PMID: 34873335 Free PMC article.
Characterization and visualization of tandem repeats at genome scale.
Dolzhenko E, English A, Dashnow H, De Sena Brandine G, Mokveld T, Rowell WJ, Karniski C, Kronenberg Z, Danzi MC, Cheung WA, Bi C, Farrow E, Wenger A, Chua KP, Martínez-Cerdeño V, Bartley TD, Jin P, Nelson DL, Zuchner S, Pastinen T, Quinlan AR, Sedlazeck FJ, Eberle MA. Dolzhenko E, et al. Nat Biotechnol. 2024 Oct;42(10):1606-1614. doi: 10.1038/s41587-023-02057-3. Epub 2024 Jan 2. Nat Biotechnol. 2024. PMID: 38168995 Free PMC article.
HiFi long-read genomes for difficult-to-detect, clinically relevant variants.
Höps W, Weiss MM, Derks R, Galbany JC, Ouden AD, van den Heuvel S, Timmermans R, Smits J, Mokveld T, Dolzhenko E, Chen X, van den Wijngaard A, Eberle MA, Yntema HG, Hoischen A, Gilissen C, Vissers LELM. Höps W, et al. Among authors: dolzhenko e. Am J Hum Genet. 2025 Feb 6;112(2):450-456. doi: 10.1016/j.ajhg.2024.12.013. Epub 2025 Jan 13. Am J Hum Genet. 2025. PMID: 39809270 Free PMC article.
Recurrent repeat expansions in human cancer genomes.
Erwin GS, Gürsoy G, Al-Abri R, Suriyaprakash A, Dolzhenko E, Zhu K, Hoerner CR, White SM, Ramirez L, Vadlakonda A, Vadlakonda A, von Kraut K, Park J, Brannon CM, Sumano DA, Kirtikar RA, Erwin AA, Metzner TJ, Yuen RKC, Fan AC, Leppert JT, Eberle MA, Gerstein M, Snyder MP. Erwin GS, et al. Among authors: dolzhenko e. Nature. 2023 Jan;613(7942):96-102. doi: 10.1038/s41586-022-05515-1. Epub 2022 Dec 14. Nature. 2023. PMID: 36517591 Free PMC article.
Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study.
Ibañez K, Polke J, Hagelstrom RT, Dolzhenko E, Pasko D, Thomas ERA, Daugherty LC, Kasperaviciute D, Smith KR; WGS for Neurological Diseases Group; Deans ZC, Hill S, Fowler T, Scott RH, Hardy J, Chinnery PF, Houlden H, Rendon A, Caulfield MJ, Eberle MA, Taft RJ, Tucci A; Genomics England Research Consortium. Ibañez K, et al. Among authors: dolzhenko e. Lancet Neurol. 2022 Mar;21(3):234-245. doi: 10.1016/S1474-4422(21)00462-2. Lancet Neurol. 2022. PMID: 35182509 Free PMC article.
A Randomized Comparison of Postprandial Glucose Excursion Using Inhaled Insulin Versus Rapid-Acting Analog Insulin in Adults With Type 1 Diabetes Using Multiple Daily Injections of Insulin or Automated Insulin Delivery.
Hirsch IB, Beck RW, Marak MC, Calhoun P, Mottalib A, Salhin A, Manessis A, Coviello AD, Bhargava A, Thorsell A, Atakov Castillo A, Bode BW, Levister C, Levy CJ, Donahue C, Cordero C, Beatson C, Langel CR, Jacobson C, Kurek C, Cruse D, Pickering D, Tamarez D, Steenkamp DW, Desjardins D, Aleppo G, O'Malley G, Akturk HK, Diner J, Baran JD, Buse JB, Ruedy K, Codorniz K, Klein KR, Castorino K, Jordan LF, Kipnes M, Church MM, Hamdy O, Raskin P, Nguyen QT, Weinstock RS, Lee S, Rizvi S, Bzdick S, Ghorbani Rodriguez T, Salah T, Blevins T, Kudva YC, Haider Z; INHALE-3 Study Group. Hirsch IB, et al. Diabetes Care. 2024 Sep 1;47(9):1682-1687. doi: 10.2337/dc24-0838. Diabetes Care. 2024. PMID: 39042575 Free PMC article. Clinical Trial.
A deep population reference panel of tandem repeat variation.
Ziaei Jam H, Li Y, DeVito R, Mousavi N, Ma N, Lujumba I, Adam Y, Maksimov M, Huang B, Dolzhenko E, Qiu Y, Kakembo FE, Joseph H, Onyido B, Adeyemi J, Bakhtiari M, Park J, Javadzadeh S, Jjingo D, Adebiyi E, Bafna V, Gymrek M. Ziaei Jam H, et al. Among authors: dolzhenko e. Nat Commun. 2023 Oct 23;14(1):6711. doi: 10.1038/s41467-023-42278-3. Nat Commun. 2023. PMID: 37872149 Free PMC article.
A common flanking variant is associated with enhanced stability of the FGF14-SCA27B repeat locus.
Pellerin D, Del Gobbo GF, Couse M, Dolzhenko E, Nageshwaran SK, Cheung WA, Xu IRL, Dicaire MJ, Spurdens G, Matos-Rodrigues G, Stevanovski I, Scriba CK, Rebelo A, Roth V, Wandzel M, Bonnet C, Ashton C, Agarwal A, Peter C, Hasson D, Tsankova NM, Dewar K, Lamont PJ, Laing NG, Renaud M, Houlden H, Synofzik M, Usdin K, Nussenzweig A, Napierala M, Chen Z, Jiang H, Deveson IW, Ravenscroft G, Akbarian S, Eberle MA, Boycott KM, Pastinen T; All of Us Research Program Long Read Working Group; Brais B, Zuchner S, Danzi MC. Pellerin D, et al. Among authors: dolzhenko e. Nat Genet. 2024 Jul;56(7):1366-1370. doi: 10.1038/s41588-024-01808-5. Epub 2024 Jun 27. Nat Genet. 2024. PMID: 38937606 Free PMC article.
70 results