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Items: 1 to 50 of 159

1.

The Personal Genome Project Canada: findings from whole genome sequences of the inaugural 56 participants.

Reuter MS, Walker S, Thiruvahindrapuram B, Whitney J, Cohn I, Sondheimer N, Yuen RKC, Trost B, Paton TA, Pereira SL, Herbrick JA, Wintle RF, Merico D, Howe J, MacDonald JR, Lu C, Nalpathamkalam T, Sung WWL, Wang Z, Patel RV, Pellecchia G, Wei J, Strug LJ, Bell S, Kellam B, Mahtani MM, Bassett AS, Bombard Y, Weksberg R, Shuman C, Cohn RD, Stavropoulos DJ, Bowdin S, Hildebrandt MR, Wei W, Romm A, Pasceri P, Ellis J, Ray P, Meyn MS, Monfared N, Hosseini SM, Joseph-George AM, Keeley FW, Cook RA, Fiume M, Lee HC, Marshall CR, Davies J, Hazell A, Buchanan JA, Szego MJ, Scherer SW.

CMAJ. 2018 Feb 5;190(5):E126-E136. doi: 10.1503/cmaj.171151.

2.

A Comprehensive Workflow for Read Depth-Based Identification of Copy-Number Variation from Whole-Genome Sequence Data.

Trost B, Walker S, Wang Z, Thiruvahindrapuram B, MacDonald JR, Sung WWL, Pereira SL, Whitney J, Chan AJS, Pellecchia G, Reuter MS, Lok S, Yuen RKC, Marshall CR, Merico D, Scherer SW.

Am J Hum Genet. 2018 Jan 4;102(1):142-155. doi: 10.1016/j.ajhg.2017.12.007.

3.

Association of IMMP2L deletions with autism spectrum disorder: A trio family study and meta-analysis.

Zhang Y, Liu Y, Zarrei M, Tong W, Dong R, Wang Y, Zhang H, Yang X, MacDonald JR, Uddin M, Scherer SW, Gai Z.

Am J Med Genet B Neuropsychiatr Genet. 2018 Jan;177(1):93-100. doi: 10.1002/ajmg.b.32608. Epub 2017 Nov 20.

PMID:
29152845
4.

De novo and rare inherited copy-number variations in the hemiplegic form of cerebral palsy.

Zarrei M, Fehlings DL, Mawjee K, Switzer L, Thiruvahindrapuram B, Walker S, Merico D, Casallo G, Uddin M, MacDonald JR, Gazzellone MJ, Higginbotham EJ, Campbell C, deVeber G, Frid P, Gorter JW, Hunt C, Kawamura A, Kim M, McCormick A, Mesterman R, Samdup D, Marshall CR, Stavropoulos DJ, Wintle RF, Scherer SW.

Genet Med. 2018 Feb;20(2):172-180. doi: 10.1038/gim.2017.83. Epub 2017 Aug 3.

5.

Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder.

C Yuen RK, Merico D, Bookman M, L Howe J, Thiruvahindrapuram B, Patel RV, Whitney J, Deflaux N, Bingham J, Wang Z, Pellecchia G, Buchanan JA, Walker S, Marshall CR, Uddin M, Zarrei M, Deneault E, D'Abate L, Chan AJ, Koyanagi S, Paton T, Pereira SL, Hoang N, Engchuan W, Higginbotham EJ, Ho K, Lamoureux S, Li W, MacDonald JR, Nalpathamkalam T, Sung WW, Tsoi FJ, Wei J, Xu L, Tasse AM, Kirby E, Van Etten W, Twigger S, Roberts W, Drmic I, Jilderda S, Modi BM, Kellam B, Szego M, Cytrynbaum C, Weksberg R, Zwaigenbaum L, Woodbury-Smith M, Brian J, Senman L, Iaboni A, Doyle-Thomas K, Thompson A, Chrysler C, Leef J, Savion-Lemieux T, Smith IM, Liu X, Nicolson R, Seifer V, Fedele A, Cook EH, Dager S, Estes A, Gallagher L, Malow BA, Parr JR, Spence SJ, Vorstman J, Frey BJ, Robinson JT, Strug LJ, Fernandez BA, Elsabbagh M, Carter MT, Hallmayer J, Knoppers BM, Anagnostou E, Szatmari P, Ring RH, Glazer D, Pletcher MT, Scherer SW.

Nat Neurosci. 2017 Apr;20(4):602-611. doi: 10.1038/nn.4524. Epub 2017 Mar 6.

6.

Reanalysis of the electrode polarization in electrolytic cells limited by blocking electrodes.

Macdonald JR, Barbero G.

Phys Rev E. 2016 Oct;94(4-1):042608. Epub 2016 Oct 24.

PMID:
27841515
7.

Genome-wide characteristics of de novo mutations in autism.

Yuen RK, Merico D, Cao H, Pellecchia G, Alipanahi B, Thiruvahindrapuram B, Tong X, Sun Y, Cao D, Zhang T, Wu X, Jin X, Zhou Z, Liu X, Nalpathamkalam T, Walker S, Howe JL, Wang Z, MacDonald JR, Chan A, D'Abate L, Deneault E, Siu MT, Tammimies K, Uddin M, Zarrei M, Wang M, Li Y, Wang J, Wang J, Yang H, Bookman M, Bingham J, Gross SS, Loy D, Pletcher M, Marshall CR, Anagnostou E, Zwaigenbaum L, Weksberg R, Fernandez BA, Roberts W, Szatmari P, Glazer D, Frey BJ, Ring RH, Xu X, Scherer SW.

NPJ Genom Med. 2016 Aug 3;1:160271-1602710.

8.

Mitochondrial dysfunction in peripheral blood mononuclear cells in early experimental and clinical acute pancreatitis.

Chakraborty M, Hickey AJ, Petrov MS, Macdonald JR, Thompson N, Newby L, Sim D, Windsor JA, Phillips AR.

Pancreatology. 2016 Sep-Oct;16(5):739-47. doi: 10.1016/j.pan.2016.06.659. Epub 2016 Jun 27.

PMID:
27473495
9.

Malocclusion model of temporomandibular joint osteoarthritis in mice with and without receptor for advanced glycation end products.

Matías EM, Mecham DK, Black CS, Graf JW, Steel SD, Wilhelm SK, Andersen KM, Mitchell JA, Macdonald JR, Hollis WR, Eggett DL, Reynolds PR, Kooyman DL.

Arch Oral Biol. 2016 Sep;69:47-62. doi: 10.1016/j.archoralbio.2016.05.007. Epub 2016 May 14.

PMID:
27236646
10.

Cellular degradation of 4-hydroxy-2-oxoglutarate aldolase leads to absolute deficiency in primary hyperoxaluria type 3.

MacDonald JR, Huang AD, Loomes KM.

FEBS Lett. 2016 May;590(10):1467-76. doi: 10.1002/1873-3468.12181. Epub 2016 May 10.

11.

Evaluation of 111In-labeled Anginex as Potential SPECT Tracer for Imaging of Tumor Angiogenesis.

Van Mourik TR, Läppchen T, Rossin R, Van Beijnum JR, Macdonald JR, Mayo KH, Griffioen AW, Nicolay K, Grüll H.

Anticancer Res. 2015 Nov;35(11):5945-54.

PMID:
26504018
12.

Self-Q-switched waveguide laser based on femtosecond laser inscribed Nd:Cr:YVO(4) crystal.

Tan Y, Yao Y, Macdonald JR, Kar AK, Yu H, Zhang H, Chen F.

Opt Lett. 2014 Sep 15;39(18):5289-92. doi: 10.1364/OL.39.005289.

PMID:
26466253
13.

Changes in mitochondrial function and mitochondria associated protein expression in response to 2-weeks of high intensity interval training.

Vincent G, Lamon S, Gant N, Vincent PJ, MacDonald JR, Markworth JF, Edge JA, Hickey AJ.

Front Physiol. 2015 Feb 24;6:51. doi: 10.3389/fphys.2015.00051. eCollection 2015.

14.

A copy number variation map of the human genome.

Zarrei M, MacDonald JR, Merico D, Scherer SW.

Nat Rev Genet. 2015 Mar;16(3):172-83. doi: 10.1038/nrg3871. Epub 2015 Feb 3. Review.

PMID:
25645873
15.

A high-resolution copy-number variation resource for clinical and population genetics.

Uddin M, Thiruvahindrapuram B, Walker S, Wang Z, Hu P, Lamoureux S, Wei J, MacDonald JR, Pellecchia G, Lu C, Lionel AC, Gazzellone MJ, McLaughlin JR, Brown C, Andrulis IL, Knight JA, Herbrick JA, Wintle RF, Ray P, Stavropoulos DJ, Marshall CR, Scherer SW.

Genet Med. 2015 Sep;17(9):747-52. doi: 10.1038/gim.2014.178. Epub 2014 Dec 11.

16.

Could thermal sensitivity of mitochondria determine species distribution in a changing climate?

Iftikar FI, MacDonald JR, Baker DW, Renshaw GM, Hickey AJ.

J Exp Biol. 2014 Jul 1;217(Pt 13):2348-57. doi: 10.1242/jeb.098798.

17.

Ob/ob mouse livers show decreased oxidative phosphorylation efficiencies and anaerobic capacities after cold ischemia.

Chu MJ, Hickey AJ, Tagaloa S, Zhang L, Dare AJ, MacDonald JR, Yeong ML, Bartlett AS, Phillips AR.

PLoS One. 2014 Jun 23;9(6):e100609. doi: 10.1371/journal.pone.0100609. eCollection 2014.

18.

Compact Cr:ZnS channel waveguide laser operating at 2,333 nm.

Macdonald JR, Beecher SJ, Lancaster A, Berry PA, Schepler KL, Mirov SB, Kar AK.

Opt Express. 2014 Mar 24;22(6):7052-7. doi: 10.1364/OE.22.007052.

PMID:
24664054
19.

Development of a high-resolution Y-chromosome microarray for improved male infertility diagnosis.

Yuen RK, Merkoulovitch A, MacDonald JR, Vlasschaert M, Lo K, Grober E, Marshall CR, Jarvi KA, Kolomietz E, Scherer SW.

Fertil Steril. 2014 Apr;101(4):1079-1085.e3. doi: 10.1016/j.fertnstert.2013.12.027. Epub 2014 Jan 23.

PMID:
24462061
20.

Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes.

Lionel AC, Tammimies K, Vaags AK, Rosenfeld JA, Ahn JW, Merico D, Noor A, Runke CK, Pillalamarri VK, Carter MT, Gazzellone MJ, Thiruvahindrapuram B, Fagerberg C, Laulund LW, Pellecchia G, Lamoureux S, Deshpande C, Clayton-Smith J, White AC, Leather S, Trounce J, Melanie Bedford H, Hatchwell E, Eis PS, Yuen RK, Walker S, Uddin M, Geraghty MT, Nikkel SM, Tomiak EM, Fernandez BA, Soreni N, Crosbie J, Arnold PD, Schachar RJ, Roberts W, Paterson AD, So J, Szatmari P, Chrysler C, Woodbury-Smith M, Brian Lowry R, Zwaigenbaum L, Mandyam D, Wei J, Macdonald JR, Howe JL, Nalpathamkalam T, Wang Z, Tolson D, Cobb DS, Wilks TM, Sorensen MJ, Bader PI, An Y, Wu BL, Musumeci SA, Romano C, Postorivo D, Nardone AM, Monica MD, Scarano G, Zoccante L, Novara F, Zuffardi O, Ciccone R, Antona V, Carella M, Zelante L, Cavalli P, Poggiani C, Cavallari U, Argiropoulos B, Chernos J, Brasch-Andersen C, Speevak M, Fichera M, Ogilvie CM, Shen Y, Hodge JC, Talkowski ME, Stavropoulos DJ, Marshall CR, Scherer SW.

Hum Mol Genet. 2014 May 15;23(10):2752-68. doi: 10.1093/hmg/ddt669. Epub 2013 Dec 30.

21.

Hepatic mitochondrial function analysis using needle liver biopsy samples.

Chu MJ, Phillips AR, Hosking AW, MacDonald JR, Bartlett AS, Hickey AJ.

PLoS One. 2013 Oct 29;8(10):e79097. doi: 10.1371/journal.pone.0079097. eCollection 2013.

22.

Performance of high-throughput sequencing for the discovery of genetic variation across the complete size spectrum.

Pang AW, Macdonald JR, Yuen RK, Hayes VM, Scherer SW.

G3 (Bethesda). 2014 Jan 10;4(1):63-5. doi: 10.1534/g3.113.008797.

23.

The Database of Genomic Variants: a curated collection of structural variation in the human genome.

MacDonald JR, Ziman R, Yuen RK, Feuk L, Scherer SW.

Nucleic Acids Res. 2014 Jan;42(Database issue):D986-92. doi: 10.1093/nar/gkt958. Epub 2013 Oct 29.

24.

Efficient mid-infrared Cr:ZnSe channel waveguide laser operating at 2486 nm.

Macdonald JR, Beecher SJ, Berry PA, Brown G, Schepler KL, Kar AK.

Opt Lett. 2013 Jul 1;38(13):2194-6. doi: 10.1364/OL.38.002194.

PMID:
23811874
25.

On the equivalence between specific adsorption and kinetic equation descriptions of the admittance response in electrolytic cells.

Evangelista LR, Lenzi EK, Barbero G, Macdonald JR.

J Chem Phys. 2013 Mar 21;138(11):114702. doi: 10.1063/1.4794689.

PMID:
23534648
26.

Polycationic calixarene PTX013, a potent cytotoxic agent against tumors and drug resistant cancer.

Dings RP, Levine JI, Brown SG, Astorgues-Xerri L, MacDonald JR, Hoye TR, Raymond E, Mayo KH.

Invest New Drugs. 2013 Oct;31(5):1142-50. doi: 10.1007/s10637-013-9932-0. Epub 2013 Feb 8.

27.

Mechanisms of formation of structural variation in a fully sequenced human genome.

Pang AW, Migita O, Macdonald JR, Feuk L, Scherer SW.

Hum Mutat. 2013 Feb;34(2):345-54. doi: 10.1002/humu.22240. Epub 2012 Nov 19.

PMID:
23086744
28.

Three to six ambiguities in immittance spectroscopy data fitting.

Macdonald JR.

J Phys Condens Matter. 2012 May 2;24(17):175004. doi: 10.1088/0953-8984/24/17/175004. Epub 2012 Apr 5.

PMID:
22481085
29.

Anomalous diffusion and memory effects on the impedance spectroscopy for finite-length situations.

Evangelista LR, Lenzi EK, Barbero G, Macdonald JR.

J Phys Condens Matter. 2011 Dec 7;23(48):485005. doi: 10.1088/0953-8984/23/48/485005. Epub 2011 Nov 15.

PMID:
22082531
30.
31.

Direct laser writing of near-IR step-index buried channel waveguides in rare earth doped YAG.

Rodenas A, Benayas A, Macdonald JR, Zhang J, Tang DY, Jaque D, Kar AK.

Opt Lett. 2011 Sep 1;36(17):3395-7. doi: 10.1364/OL.36.003395.

PMID:
21886222
32.

Molecular characterization of a t(2;7) translocation linking CDK6 to the IGK locus in CD5(-) monoclonal B-cell lymphocytosis.

Parker E, Macdonald JR, Wang C.

Cancer Genet. 2011 May;204(5):260-4. doi: 10.1016/j.cancergen.2011.03.004.

PMID:
21665179
33.

Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants.

Pinto D, Darvishi K, Shi X, Rajan D, Rigler D, Fitzgerald T, Lionel AC, Thiruvahindrapuram B, Macdonald JR, Mills R, Prasad A, Noonan K, Gribble S, Prigmore E, Donahoe PK, Smith RS, Park JH, Hurles ME, Carter NP, Lee C, Scherer SW, Feuk L.

Nat Biotechnol. 2011 May 8;29(6):512-20. doi: 10.1038/nbt.1852.

34.

Euchromatic 9q13-q21 duplication variants are tandem segmental amplifications of sequence reciprocal to 9q13-q21 deletions.

Joseph-George AM, He Y, Marshall CR, Wong RC, MacDonald JR, Fahey CA, Chitayat D, Chun K, Ryan G, Summers AM, Winsor EJ, Scherer SW.

J Med Genet. 2011 May;48(5):317-22. doi: 10.1136/jmg.2010.085662. Epub 2011 Mar 23.

PMID:
21429932
35.

Utility of continuum diffusion models for analyzing mobile-ion immittance data: electrode polarization, bulk, and generation-recombination effects.

Macdonald JR.

J Phys Condens Matter. 2010 Dec 15;22(49):495101. doi: 10.1088/0953-8984/22/49/495101.

PMID:
21406781
36.

Ultrafast laser inscription of near-infrared waveguides in polycrystalline ZnSe.

Macdonald JR, Thomson RR, Beecher SJ, Psaila ND, Bookey HT, Kar AK.

Opt Lett. 2010 Dec 1;35(23):4036-8. doi: 10.1364/OL.35.004036.

PMID:
21124604
37.

Transmural differences in respiratory capacity across the rat left ventricle in health, aging, and streptozotocin-induced diabetes mellitus: evidence that mitochondrial dysfunction begins in the subepicardium.

MacDonald JR, Oellermann M, Rynbeck S, Chang G, Ruggiero K, Cooper GJ, Hickey AJ.

Am J Physiol Cell Physiol. 2011 Feb;300(2):C246-55. doi: 10.1152/ajpcell.00294.2010. Epub 2010 Nov 17.

38.

Transport process of ions in insulating media in the hyperbolic diffusion regime.

Barbero G, Macdonald JR.

Phys Rev E Stat Nonlin Soft Matter Phys. 2010 May;81(5 Pt 1):051503. Epub 2010 May 5.

PMID:
20866231
39.

Towards a comprehensive structural variation map of an individual human genome.

Pang AW, MacDonald JR, Pinto D, Wei J, Rafiq MA, Conrad DF, Park H, Hurles ME, Lee C, Venter JC, Kirkness EF, Levy S, Feuk L, Scherer SW.

Genome Biol. 2010;11(5):R52. doi: 10.1186/gb-2010-11-5-r52. Epub 2010 May 19.

40.

Inhibiting tumor growth by targeting tumor vasculature with galectin-1 antagonist anginex conjugated to the cytotoxic acylfulvene, 6-hydroxylpropylacylfulvene.

Dings RP, Van Laar ES, Loren M, Webber J, Zhang Y, Waters SJ, Macdonald JR, Mayo KH.

Bioconjug Chem. 2010 Jan;21(1):20-7. doi: 10.1021/bc900287y.

PMID:
20020769
41.

Origins and functional impact of copy number variation in the human genome.

Conrad DF, Pinto D, Redon R, Feuk L, Gokcumen O, Zhang Y, Aerts J, Andrews TD, Barnes C, Campbell P, Fitzgerald T, Hu M, Ihm CH, Kristiansson K, Macarthur DG, Macdonald JR, Onyiah I, Pang AW, Robson S, Stirrups K, Valsesia A, Walter K, Wei J; Wellcome Trust Case Control Consortium, Tyler-Smith C, Carter NP, Lee C, Scherer SW, Hurles ME.

Nature. 2010 Apr 1;464(7289):704-12. doi: 10.1038/nature08516. Epub 2009 Oct 7.

42.

Observation of amounts of movement practice provided during stroke rehabilitation.

Lang CE, Macdonald JR, Reisman DS, Boyd L, Jacobson Kimberley T, Schindler-Ivens SM, Hornby TG, Ross SA, Scheets PL.

Arch Phys Med Rehabil. 2009 Oct;90(10):1692-8. doi: 10.1016/j.apmr.2009.04.005.

43.
44.

Dispersive dielectric and conductive effects in 2D resistor-capacitor networks.

Hamou RF, Macdonald JR, Tuncer E.

J Phys Condens Matter. 2009 Jan 14;21(2):025904. doi: 10.1088/0953-8984/21/2/025904. Epub 2008 Dec 11.

PMID:
21813993
45.

Origin of change in molecular-weight dependence for polymer surface tension.

Thompson RB, Macdonald JR, Chen P.

Phys Rev E Stat Nonlin Soft Matter Phys. 2008 Sep;78(3 Pt 1):030801. Epub 2008 Sep 30.

PMID:
18850985
46.

Analysis of dielectric and conductive dispersion above Tg in glass-forming molecular liquids.

Macdonald JR.

J Phys Chem B. 2008 Nov 6;112(44):13684-94. doi: 10.1021/jp805535w. Epub 2008 Oct 9.

PMID:
18842021
47.

Ovarian tumor growth regression using a combination of vascular targeting agents anginex or topomimetic 0118 and the chemotherapeutic irofulven.

Dings RP, Van Laar ES, Webber J, Zhang Y, Griffin RJ, Waters SJ, MacDonald JR, Mayo KH.

Cancer Lett. 2008 Jul 8;265(2):270-80. doi: 10.1016/j.canlet.2008.02.048. Epub 2008 Apr 1.

48.

The diploid genome sequence of an individual human.

Levy S, Sutton G, Ng PC, Feuk L, Halpern AL, Walenz BP, Axelrod N, Huang J, Kirkness EF, Denisov G, Lin Y, MacDonald JR, Pang AW, Shago M, Stockwell TB, Tsiamouri A, Bafna V, Bansal V, Kravitz SA, Busam DA, Beeson KY, McIntosh TC, Remington KA, Abril JF, Gill J, Borman J, Rogers YH, Frazier ME, Scherer SW, Strausberg RL, Venter JC.

PLoS Biol. 2007 Sep 4;5(10):e254.

49.

A phase I and pharmacokinetic study of irofulven and capecitabine administered every 2 weeks in patients with advanced solid tumors.

Alexandre J, Kahatt C, Bertheault-Cvitkovic F, Faivre S, Shibata S, Hilgers W, Goldwasser F, Lokiec F, Raymond E, Weems G, Shah A, MacDonald JR, Cvitkovic E.

Invest New Drugs. 2007 Oct;25(5):453-62. Epub 2007 Jul 13.

PMID:
17628744
50.

Salivary Flow Rates andPharmacokinetics in Healthy Japaneseand Caucasian VolunteersAdministered Oral Pilocarpine : A Comparative Study.

Wasnich R, Gallagher S, Stanek S, Macdonald JR, Balan G, Omori Y, Mikoshiba I.

Clin Drug Investig. 2003;23(6):411-7. No abstract available.

PMID:
17535052

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