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Results: 1 to 20 of 144

1.

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. 2014 Dec 11. doi: 10.1038/gim.2014.178. [Epub ahead of print]

PMID:
25503493
[PubMed - as supplied by publisher]
2.

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.

PMID:
25141346
[PubMed - in process]
3.

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.

PMID:
24956382
[PubMed - in process]
Free PMC Article
4.

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
[PubMed]
5.

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
[PubMed - indexed for MEDLINE]
6.

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.

PMID:
24381304
[PubMed - indexed for MEDLINE]
7.

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.

PMID:
24205366
[PubMed - in process]
Free PMC Article
8.

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.

PMID:
24192839
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

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.

PMID:
24174537
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

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
[PubMed]
11.

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
[PubMed]
12.

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.

PMID:
23392775
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

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
[PubMed - indexed for MEDLINE]
14.

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
[PubMed]
15.

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
[PubMed]
16.
17.

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
[PubMed]
18.

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
[PubMed - indexed for MEDLINE]
19.

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.

PMID:
21552272
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

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
[PubMed - indexed for MEDLINE]

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