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Items: 1 to 20 of 82

1.

From genetic discovery to future personalized health research.

Palotie A, Widén E, Ripatti S.

N Biotechnol. 2013 Mar 25;30(3):291-5. doi: 10.1016/j.nbt.2012.11.013. Epub 2012 Nov 16. Review.

2.

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
3.

Next generation sequencing and rare genetic variants: from human population studies to medical genetics.

Matullo G, Di Gaetano C, Guarrera S.

Environ Mol Mutagen. 2013 Aug;54(7):518-32. doi: 10.1002/em.21799. Epub 2013 Aug 6. Review.

PMID:
23922201
4.

The discovery of human genetic variations and their use as disease markers: past, present and future.

Ku CS, Loy EY, Salim A, Pawitan Y, Chia KS.

J Hum Genet. 2010 Jul;55(7):403-15. doi: 10.1038/jhg.2010.55. Epub 2010 May 20. Review.

PMID:
20485443
5.
6.

Human genetics and genomics a decade after the release of the draft sequence of the human genome.

Naidoo N, Pawitan Y, Soong R, Cooper DN, Ku CS.

Hum Genomics. 2011 Oct;5(6):577-622. Review.

7.

[Development of antituberculous drugs: current status and future prospects].

Tomioka H, Namba K.

Kekkaku. 2006 Dec;81(12):753-74. Review. Japanese.

PMID:
17240921
8.

Implementing genomic medicine in pathology.

Williams ES, Hegde M.

Adv Anat Pathol. 2013 Jul;20(4):238-44. doi: 10.1097/PAP.0b013e3182977199. Review.

PMID:
23752086
9.

The genome clinic: a multidisciplinary approach to assessing the opportunities and challenges of integrating genomic analysis into clinical care.

Bowdin S, Ray PN, Cohn RD, Meyn MS.

Hum Mutat. 2014 May;35(5):513-9. doi: 10.1002/humu.22536. Epub 2014 Apr 7. Review.

PMID:
24599881
10.

Exome versus transcriptome sequencing in identifying coding region variants.

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

Expert Rev Mol Diagn. 2012 Apr;12(3):241-51. doi: 10.1586/erm.12.10. Review.

PMID:
22468815
11.

Future possibilities in migraine genetics.

Rudkjobing LA, Esserlind AL, Olesen J.

J Headache Pain. 2012 Oct;13(7):505-11. doi: 10.1007/s10194-012-0481-2. Epub 2012 Sep 7. Review.

12.

How next-generation sequencing is transforming complex disease genetics.

Kilpinen H, Barrett JC.

Trends Genet. 2013 Jan;29(1):23-30. doi: 10.1016/j.tig.2012.10.001. Epub 2012 Oct 25. Review.

PMID:
23103023
13.

Rare and low-frequency variants in human common diseases and other complex traits.

Lettre G.

J Med Genet. 2014 Nov;51(11):705-14. doi: 10.1136/jmedgenet-2014-102437. Epub 2014 Sep 3. Review.

PMID:
25185437
14.

Rare-variant genome-wide association studies: a new frontier in genetic analysis of complex traits.

Wagner MJ.

Pharmacogenomics. 2013 Mar;14(4):413-24. doi: 10.2217/pgs.13.36. Review.

PMID:
23438888
15.

Genomics meets proteomics: identifying the culprits in disease.

Stunnenberg HG, Hubner NC.

Hum Genet. 2014 Jun;133(6):689-700. doi: 10.1007/s00439-013-1376-2. Epub 2013 Oct 18. Review.

16.

[Gene mutations; up date].

Nakagawa M.

Rinsho Shinkeigaku. 2013;53(11):903-6. Review. Japanese.

PMID:
24291829
17.

Where are we in genomics?

Hocquette JF.

J Physiol Pharmacol. 2005 Jun;56 Suppl 3:37-70. Review.

PMID:
16077195
18.

Genetics for clinicians: from candidate genes to whole genome scans (technological advances).

Bochud M.

Best Pract Res Clin Endocrinol Metab. 2012 Apr;26(2):119-32. doi: 10.1016/j.beem.2011.09.001. Review.

PMID:
22498243
19.

Revisiting Mendelian disorders through exome sequencing.

Ku CS, Naidoo N, Pawitan Y.

Hum Genet. 2011 Apr;129(4):351-70. doi: 10.1007/s00439-011-0964-2. Epub 2011 Feb 18. Review.

PMID:
21331778
20.

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