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Items: 1 to 20 of 199

1.

Impact of next generation sequencing on diagnostics in a genetic skin disease clinic.

Takeichi T, Nanda A, Liu L, Salam A, Campbell P, Fong K, Akiyama M, Ozoemena L, Stone KL, Al-Ajmi H, Simpson MA, McGrath JA.

Exp Dermatol. 2013 Dec;22(12):825-31. doi: 10.1111/exd.12276.

PMID:
24279917
2.

Developing genome and exome sequencing for candidate gene identification in inherited disorders: an integrated technical and bioinformatics approach.

Coonrod EM, Durtschi JD, Margraf RL, Voelkerding KV.

Arch Pathol Lab Med. 2013 Mar;137(3):415-33. doi: 10.5858/arpa.2012-0107-RA. Epub 2012 Jul 7. Review.

PMID:
22770468
3.

Next generation diagnostics of heritable connective tissue disorders.

Salam A, Simpson MA, Stone KL, Takeichi T, Nanda A, Akiyama M, McGrath JA.

Matrix Biol. 2014 Jan;33:35-40. doi: 10.1016/j.matbio.2013.06.004. Epub 2013 Jul 26. Review.

4.

Translating exome sequencing from research to clinical diagnostics.

Coonrod EM, Margraf RL, Voelkerding KV.

Clin Chem Lab Med. 2011 Dec 23;50(7):1161-8. doi: 10.1515/cclm-2011-0841. Review.

PMID:
22850020
5.

Using next-generation sequencing as a genetic diagnostic tool in rare autosomal recessive neurologic Mendelian disorders.

Chen Z, Wang JL, Tang BS, Sun ZF, Shi YT, Shen L, Lei LF, Wei XM, Xiao JJ, Hu ZM, Pan Q, Xia K, Zhang QY, Dai MZ, Liu Y, Ashizawa T, Jiang H.

Neurobiol Aging. 2013 Oct;34(10):2442.e11-7. doi: 10.1016/j.neurobiolaging.2013.04.029. Epub 2013 May 30.

PMID:
23726790
6.

Technological advances in DNA sequence enrichment and sequencing for germline genetic diagnosis.

Ku CS, Wu M, Cooper DN, Naidoo N, Pawitan Y, Pang B, Iacopetta B, Soong R.

Expert Rev Mol Diagn. 2012 Mar;12(2):159-73. doi: 10.1586/erm.11.95. Review.

PMID:
22369376
7.

Next-generation sequencing in the clinic: promises and challenges.

Xuan J, Yu Y, Qing T, Guo L, Shi L.

Cancer Lett. 2013 Nov 1;340(2):284-95. doi: 10.1016/j.canlet.2012.11.025. Epub 2012 Nov 19. Review.

PMID:
23174106
8.

Expanding DNA diagnostic panel testing: is more better?

Klee EW, Hoppman-Chaney NL, Ferber MJ.

Expert Rev Mol Diagn. 2011 Sep;11(7):703-9. doi: 10.1586/erm.11.58. Review.

PMID:
21902532
9.

Next generation molecular diagnosis of mitochondrial disorders.

Wong LJ.

Mitochondrion. 2013 Jul;13(4):379-87. doi: 10.1016/j.mito.2013.02.001. Epub 2013 Mar 6. Review.

PMID:
23473862
10.

The promise and challenges of next-generation genome sequencing for clinical care.

Johansen Taber KA, Dickinson BD, Wilson M.

JAMA Intern Med. 2014 Feb 1;174(2):275-80. doi: 10.1001/jamainternmed.2013.12048. Review.

PMID:
24217348
11.

Molecular findings among patients referred for clinical whole-exome sequencing.

Yang Y, Muzny DM, Xia F, Niu Z, Person R, Ding Y, Ward P, Braxton A, Wang M, Buhay C, Veeraraghavan N, Hawes A, Chiang T, Leduc M, Beuten J, Zhang J, He W, Scull J, Willis A, Landsverk M, Craigen WJ, Bekheirnia MR, Stray-Pedersen A, Liu P, Wen S, Alcaraz W, Cui H, Walkiewicz M, Reid J, Bainbridge M, Patel A, Boerwinkle E, Beaudet AL, Lupski JR, Plon SE, Gibbs RA, Eng CM.

JAMA. 2014 Nov 12;312(18):1870-9. doi: 10.1001/jama.2014.14601.

12.

Progress in detecting genetic alterations and their association with human disease.

Schwartz CE, Chen CF.

J Mol Biol. 2013 Nov 1;425(21):3914-8. doi: 10.1016/j.jmb.2013.07.023. Epub 2013 Jul 20.

13.

Exome sequencing: dual role as a discovery and diagnostic tool.

Ku CS, Cooper DN, Polychronakos C, Naidoo N, Wu M, Soong R.

Ann Neurol. 2012 Jan;71(1):5-14. doi: 10.1002/ana.22647. Review.

PMID:
22275248
14.

A survey of tools for variant analysis of next-generation genome sequencing data.

Pabinger S, Dander A, Fischer M, Snajder R, Sperk M, Efremova M, Krabichler B, Speicher MR, Zschocke J, Trajanoski Z.

Brief Bioinform. 2014 Mar;15(2):256-78. doi: 10.1093/bib/bbs086. Epub 2013 Jan 21.

15.

A post-hoc comparison of the utility of sanger sequencing and exome sequencing for the diagnosis of heterogeneous diseases.

Neveling K, Feenstra I, Gilissen C, Hoefsloot LH, Kamsteeg EJ, Mensenkamp AR, Rodenburg RJ, Yntema HG, Spruijt L, Vermeer S, Rinne T, van Gassen KL, Bodmer D, Lugtenberg D, de Reuver R, Buijsman W, Derks RC, Wieskamp N, van den Heuvel B, Ligtenberg MJ, Kremer H, Koolen DA, van de Warrenburg BP, Cremers FP, Marcelis CL, Smeitink JA, Wortmann SB, van Zelst-Stams WA, Veltman JA, Brunner HG, Scheffer H, Nelen MR.

Hum Mutat. 2013 Dec;34(12):1721-6. doi: 10.1002/humu.22450. Epub 2013 Oct 18.

PMID:
24123792
16.

Whole-exome sequencing improves mutation detection in a diagnostic epidermolysis bullosa laboratory.

Takeichi T, Liu L, Fong K, Ozoemena L, McMillan JR, Salam A, Campbell P, Akiyama M, Mellerio JE, McLean WH, Simpson MA, McGrath JA.

Br J Dermatol. 2015 Jan;172(1):94-100. doi: 10.1111/bjd.13190. Epub 2014 Nov 19.

PMID:
24947307
17.

Whole-exome sequencing reveals recurrent somatic mutation networks in cancer.

Liu X, Wang J, Chen L.

Cancer Lett. 2013 Nov 1;340(2):270-6. doi: 10.1016/j.canlet.2012.11.002. Epub 2012 Nov 12. Review.

PMID:
23153794
18.

What can exome sequencing do for you?

Majewski J, Schwartzentruber J, Lalonde E, Montpetit A, Jabado N.

J Med Genet. 2011 Sep;48(9):580-9. doi: 10.1136/jmedgenet-2011-100223. Epub 2011 Jul 5. Review.

PMID:
21730106
19.

Next-generation sequencing: impact of exome sequencing in characterizing Mendelian disorders.

Rabbani B, Mahdieh N, Hosomichi K, Nakaoka H, Inoue I.

J Hum Genet. 2012 Oct;57(10):621-32. doi: 10.1038/jhg.2012.91. Epub 2012 Jul 26. Review.

PMID:
22832387
20.

Whole-exome/genome sequencing and genomics.

Grody WW, Thompson BH, Hudgins L.

Pediatrics. 2013 Dec;132(Suppl 3):S211-5. doi: 10.1542/peds.2013-1032E.

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