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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1991 2
2000 2
2001 3
2002 2
2003 2
2004 6
2005 2
2006 2
2007 1
2011 1
2013 1
2016 1
2017 2
2019 7
2020 5
2021 2
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38 results
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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: eberle ma. Nature. 2020 Oct;586(7828):292-298. doi: 10.1038/s41586-020-2769-8. Epub 2020 Sep 30. Nature. 2020. PMID: 32999459
Genome-wide detection of tandem DNA repeats that are expanded in autism.
Trost B, Engchuan W, Nguyen CM, Thiruvahindrapuram B, Dolzhenko E, Backstrom I, Mirceta M, Mojarad BA, Yin Y, Dov A, Chandrakumar I, Prasolava T, Shum N, Hamdan O, Pellecchia G, Howe JL, Whitney J, Klee EW, Baheti S, Amaral DG, Anagnostou E, Elsabbagh M, Fernandez BA, Hoang N, Lewis MES, Liu X, Sjaarda C, Smith IM, Szatmari P, Zwaigenbaum L, Glazer D, Hartley D, Stewart AK, Eberle MA, Sato N, Pearson CE, Scherer SW, Yuen RKC. Trost B, et al. Among authors: eberle ma. Nature. 2020 Oct;586(7827):80-86. doi: 10.1038/s41586-020-2579-z. Epub 2020 Jul 27. Nature. 2020. PMID: 32717741
Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in GLS.
van Kuilenburg ABP, Tarailo-Graovac M, Richmond PA, Drögemöller BI, Pouladi MA, Leen R, Brand-Arzamendi K, Dobritzsch D, Dolzhenko E, Eberle MA, Hayward B, Jones MJ, Karbassi F, Kobor MS, Koster J, Kumari D, Li M, MacIsaac J, McDonald C, Meijer J, Nguyen C, Rajan-Babu IS, Scherer SW, Sim B, Trost B, Tseng LA, Turkenburg M, van Vugt JJFA, Veldink JH, Walia JS, Wang Y, van Weeghel M, Wright GEB, Xu X, Yuen RKC, Zhang J, Ross CJ, Wasserman WW, Geraghty MT, Santra S, Wanders RJA, Wen XY, Waterham HR, Usdin K, van Karnebeek CDM. van Kuilenburg ABP, et al. Among authors: eberle ma. N Engl J Med. 2019 Apr 11;380(15):1433-1441. doi: 10.1056/NEJMoa1806627. N Engl J Med. 2019. PMID: 30970188
Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS.
Rafehi H, Szmulewicz DJ, Bennett MF, Sobreira NLM, Pope K, Smith KR, Gillies G, Diakumis P, Dolzhenko E, Eberle MA, Barcina MG, Breen DP, Chancellor AM, Cremer PD, Delatycki MB, Fogel BL, Hackett A, Halmagyi GM, Kapetanovic S, Lang A, Mossman S, Mu W, Patrikios P, Perlman SL, Rosemergy I, Storey E, Watson SRD, Wilson MA, Zee DS, Valle D, Amor DJ, Bahlo M, Lockhart PJ. Rafehi H, et al. Among authors: eberle ma. Am J Hum Genet. 2019 Jul 3;105(1):151-165. doi: 10.1016/j.ajhg.2019.05.016. Epub 2019 Jun 20. Am J Hum Genet. 2019. PMID: 31230722 Free PMC article.
Detection of long repeat expansions from PCR-free whole-genome sequence data.
Dolzhenko E, van Vugt JJFA, Shaw RJ, Bekritsky MA, van Blitterswijk M, Narzisi G, Ajay SS, Rajan V, Lajoie BR, Johnson NH, Kingsbury Z, Humphray SJ, Schellevis RD, Brands WJ, Baker M, Rademakers R, Kooyman M, Tazelaar GHP, van Es MA, McLaughlin R, Sproviero W, Shatunov A, Jones A, Al Khleifat A, Pittman A, Morgan S, Hardiman O, Al-Chalabi A, Shaw C, Smith B, Neo EJ, Morrison K, Shaw PJ, Reeves C, Winterkorn L, Wexler NS; US–Venezuela Collaborative Research Group, Housman DE, Ng CW, Li AL, Taft RJ, van den Berg LH, Bentley DR, Veldink JH, Eberle MA. Dolzhenko E, et al. Among authors: eberle ma. Genome Res. 2017 Nov;27(11):1895-1903. doi: 10.1101/gr.225672.117. Epub 2017 Sep 8. Genome Res. 2017. PMID: 28887402 Free PMC article.
Spinal muscular atrophy diagnosis and carrier screening from genome sequencing data.
Chen X, Sanchis-Juan A, French CE, Connell AJ, Delon I, Kingsbury Z, Chawla A, Halpern AL, Taft RJ; NIHR BioResource, Bentley DR, Butchbach MER, Raymond FL, Eberle MA. Chen X, et al. Among authors: eberle ma. Genet Med. 2020 May;22(5):945-953. doi: 10.1038/s41436-020-0754-0. Epub 2020 Feb 18. Genet Med. 2020. PMID: 32066871 Free PMC article.
Best practices for benchmarking germline small-variant calls in human genomes.
Krusche P, Trigg L, Boutros PC, Mason CE, De La Vega FM, Moore BL, Gonzalez-Porta M, Eberle MA, Tezak Z, Lababidi S, Truty R, Asimenos G, Funke B, Fleharty M, Chapman BA, Salit M, Zook JM; Global Alliance for Genomics and Health Benchmarking Team. Krusche P, et al. Among authors: eberle ma. Nat Biotechnol. 2019 May;37(5):555-560. doi: 10.1038/s41587-019-0054-x. Epub 2019 Mar 11. Nat Biotechnol. 2019. PMID: 30858580 Free PMC article.
ExpansionHunter Denovo: a computational method for locating known and novel repeat expansions in short-read sequencing data.
Dolzhenko E, Bennett MF, Richmond PA, Trost B, Chen S, van Vugt JJFA, Nguyen C, Narzisi G, Gainullin VG, Gross AM, Lajoie BR, Taft RJ, Wasserman WW, Scherer SW, Veldink JH, Bentley DR, Yuen RKC, Bahlo M, Eberle MA. Dolzhenko E, et al. Among authors: eberle ma. Genome Biol. 2020 Apr 28;21(1):102. doi: 10.1186/s13059-020-02017-z. Genome Biol. 2020. PMID: 32345345 Free PMC article.
Length of Uninterrupted CAG, Independent of Polyglutamine Size, Results in Increased Somatic Instability, Hastening Onset of Huntington Disease.
Wright GEB, Collins JA, Kay C, McDonald C, Dolzhenko E, Xia Q, Bečanović K, Drögemöller BI, Semaka A, Nguyen CM, Trost B, Richards F, Bijlsma EK, Squitieri F, Ross CJD, Scherer SW, Eberle MA, Yuen RKC, Hayden MR. Wright GEB, et al. Among authors: eberle ma. Am J Hum Genet. 2019 Jun 6;104(6):1116-1126. doi: 10.1016/j.ajhg.2019.04.007. Epub 2019 May 16. Am J Hum Genet. 2019. PMID: 31104771 Free PMC article.
A reference data set of 5.4 million phased human variants validated by genetic inheritance from sequencing a three-generation 17-member pedigree.
Eberle MA, Fritzilas E, Krusche P, Källberg M, Moore BL, Bekritsky MA, Iqbal Z, Chuang HY, Humphray SJ, Halpern AL, Kruglyak S, Margulies EH, McVean G, Bentley DR. Eberle MA, et al. Genome Res. 2017 Jan;27(1):157-164. doi: 10.1101/gr.210500.116. Epub 2016 Nov 30. Genome Res. 2017. PMID: 27903644 Free PMC article.
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