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Items: 20

1.

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.

Am J Hum Genet. 2019 Jul 3;105(1):151-165. doi: 10.1016/j.ajhg.2019.05.016. Epub 2019 Jun 20.

2.

ExpansionHunter: A sequence-graph based tool to analyze variation in short tandem repeat regions.

Dolzhenko E, Deshpande V, Schlesinger F, Krusche P, Petrovski R, Chen S, Emig-Agius D, Gross A, Narzisi G, Bowman B, Scheffler K, van Vugt JJFA, French C, Sanchis-Juan A, Ibáñez K, Tucci A, Lajoie B, Veldink JH, Raymond FL, Taft RJ, Bentley DR, Eberle MA.

Bioinformatics. 2019 May 27. pii: btz431. doi: 10.1093/bioinformatics/btz431. [Epub ahead of print]

PMID:
31134279
3.

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.

Am J Hum Genet. 2019 Jun 6;104(6):1116-1126. doi: 10.1016/j.ajhg.2019.04.007. Epub 2019 May 16.

PMID:
31104771
4.

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.

N Engl J Med. 2019 Apr 11;380(15):1433-1441. doi: 10.1056/NEJMoa1806627.

PMID:
30970188
5.

Copy-number variants in clinical genome sequencing: deployment and interpretation for rare and undiagnosed disease.

Gross AM, Ajay SS, Rajan V, Brown C, Bluske K, Burns NJ, Chawla A, Coffey AJ, Malhotra A, Scocchia A, Thorpe E, Dzidic N, Hovanes K, Sahoo T, Dolzhenko E, Lajoie B, Khouzam A, Chowdhury S, Belmont J, Roller E, Ivakhno S, Tanner S, McEachern J, Hambuch T, Eberle M, Hagelstrom RT, Bentley DR, Perry DL, Taft RJ.

Genet Med. 2019 May;21(5):1121-1130. doi: 10.1038/s41436-018-0295-y. Epub 2018 Oct 8.

6.

Molecular characterization of the transition from acute to chronic kidney injury following ischemia/reperfusion.

Liu J, Kumar S, Dolzhenko E, Alvarado GF, Guo J, Lu C, Chen Y, Li M, Dessing MC, Parvez RK, Cippà PE, Krautzberger AM, Saribekyan G, Smith AD, McMahon AP.

JCI Insight. 2017 Sep 21;2(18). pii: 94716. doi: 10.1172/jci.insight.94716. eCollection 2017 Sep 21.

7.

Biogeographic conservation of the cytosine epigenome in the globally important marine, nitrogen-fixing cyanobacterium Trichodesmium.

Walworth NG, Hutchins DA, Dolzhenko E, Lee MD, Fu F, Smith AD, Webb EA.

Environ Microbiol. 2017 Nov;19(11):4700-4713. doi: 10.1111/1462-2920.13934. Epub 2017 Nov 2.

PMID:
28925547
8.

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.

Genome Res. 2017 Nov;27(11):1895-1903. doi: 10.1101/gr.225672.117. Epub 2017 Sep 8.

9.

lncRNA requirements for mouse acute myeloid leukemia and normal differentiation.

Delás MJ, Sabin LR, Dolzhenko E, Knott SR, Munera Maravilla E, Jackson BT, Wild SA, Kovacevic T, Stork EM, Zhou M, Erard N, Lee E, Kelley DR, Roth M, Barbosa IA, Zuber J, Rinn JL, Smith AD, Hannon GJ.

Elife. 2017 Sep 6;6. pii: e25607. doi: 10.7554/eLife.25607.

10.

The APOE4 allele shows opposite sex bias in microbleeds and Alzheimer's disease of humans and mice.

Cacciottolo M, Christensen A, Moser A, Liu J, Pike CJ, Smith C, LaDu MJ, Sullivan PM, Morgan TE, Dolzhenko E, Charidimou A, Wahlund LO, Wiberg MK, Shams S, Chiang GC; Alzheimer's Disease Neuroimaging Initiative, Finch CE.

Neurobiol Aging. 2016 Jan;37:47-57. doi: 10.1016/j.neurobiolaging.2015.10.010. Epub 2015 Oct 19.

11.

An epigenetic memory of pregnancy in the mouse mammary gland.

Dos Santos CO, Dolzhenko E, Hodges E, Smith AD, Hannon GJ.

Cell Rep. 2015 May 19;11(7):1102-9. doi: 10.1016/j.celrep.2015.04.015. Epub 2015 May 7.

12.

Genus Ranges of 4-Regular Rigid Vertex Graphs.

Buck D, Dolzhenko E, Jonoska N, Saito M, Valencia K.

Electron J Comb. 2015;22(3). pii: P3.43.

13.

The architecture of a scrambled genome reveals massive levels of genomic rearrangement during development.

Chen X, Bracht JR, Goldman AD, Dolzhenko E, Clay DM, Swart EC, Perlman DH, Doak TG, Stuart A, Amemiya CT, Sebra RP, Landweber LF.

Cell. 2014 Aug 28;158(5):1187-1198. doi: 10.1016/j.cell.2014.07.034.

14.
15.

Genomes on the edge: programmed genome instability in ciliates.

Bracht JR, Fang W, Goldman AD, Dolzhenko E, Stein EM, Landweber LF.

Cell. 2013 Jan 31;152(3):406-16. doi: 10.1016/j.cell.2013.01.005. Review.

16.

LUCApedia: a database for the study of ancient life.

Goldman AD, Bernhard TM, Dolzhenko E, Landweber LF.

Nucleic Acids Res. 2013 Jan;41(Database issue):D1079-82. doi: 10.1093/nar/gks1217. Epub 2012 Nov 27.

17.

TRANSDUCER GENERATED ARRAYS OF ROBOTIC NANO-ARMS.

Dolzhenko E, Jonoska N, Seeman NC.

Nat Comput. 2010 Jun 1;9(2):437-455.

18.

[Diaskintest for tuberculosis in children and adolescents].

Aksenova VA, Klevno NI, Baryshnikova LA, Dolzhenko EN, Iliasova EV, Medvedev SIu, Lapshina VN, Kavtarashvili SM.

Tuberk Biolezni Legkih. 2009;(10):13-6. Russian.

PMID:
20050055
19.

[Medical card keeping in children's tuberculosis sanatoria].

Nagibina OA, Gur'ianov VN, Dolzhenko EN.

Probl Tuberk Bolezn Legk. 2007;(6):56-8. Russian. No abstract available.

PMID:
17672063
20.

[Foreign body of fire-arm origin in the nasal accessory sinuses and orbit].

Ermilov VS, Dolzhenko EM, Kuz'menko EIa.

Zh Ushn Nos Gorl Bolezn. 1975 Mar-Apr;(2):111-2. Russian. No abstract available.

PMID:
1181758

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