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Results: 1 to 20 of 93

1.

Next-generation sequencing for identifying new genes in rare genetic diseases: many challenges and a pinch of luck.

Bonnefond A, Froguel P.

Genome Biol. 2013 Jul 29;14(7):309. doi: 10.1186/gb-2013-14-7-309.

PMID:
23899211
[PubMed - in process]
Free PMC Article
2.

Clinical applications of next-generation sequencing: the 2013 human genome variation society scientific meeting.

Ellard S, Patrinos GP, Oetting WS.

Hum Mutat. 2013 Nov;34(11):1583-7. doi: 10.1002/humu.22400. Epub 2013 Sep 4.

PMID:
23956188
[PubMed - indexed for MEDLINE]
3.

Next-generation sequencing in childhood disorders.

Schnekenberg RP, Németh AH.

Arch Dis Child. 2014 Mar;99(3):284-90. doi: 10.1136/archdischild-2012-302881. Epub 2013 Oct 29. Review.

PMID:
24170689
[PubMed - indexed for MEDLINE]
4.

Impact of next generation sequencing: the 2009 Human Genome Variation Society Scientific Meeting.

Oetting WS.

Hum Mutat. 2010 Apr;31(4):500-3. doi: 10.1002/humu.21210.

PMID:
20127974
[PubMed - indexed for MEDLINE]
5.

Next generation sequencing in cardiovascular diseases.

Faita F, Vecoli C, Foffa I, Andreassi MG.

World J Cardiol. 2012 Oct 26;4(10):288-95. doi: 10.4330/wjc.v4.i10.288.

PMID:
23110245
[PubMed]
Free PMC Article
6.

Rare-disease genetics in the era of next-generation sequencing: discovery to translation.

Boycott KM, Vanstone MR, Bulman DE, MacKenzie AE.

Nat Rev Genet. 2013 Oct;14(10):681-91. doi: 10.1038/nrg3555. Epub 2013 Sep 3. Review.

PMID:
23999272
[PubMed - indexed for MEDLINE]
7.

Sequencing studies in human genetics: design and interpretation.

Goldstein DB, Allen A, Keebler J, Margulies EH, Petrou S, Petrovski S, Sunyaev S.

Nat Rev Genet. 2013 Jul;14(7):460-70. doi: 10.1038/nrg3455. Epub 2013 Jun 11. Review.

PMID:
23752795
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

A report from the European Society of Cardiology Congress 2011 (August 27-31, 2011 -- Paris, France).

Rabasseda X.

Drugs Today (Barc). 2011 Oct;47(10):787-802. doi: 10.1358/dot.2011.47.10.1708830.

PMID:
22076493
[PubMed - indexed for MEDLINE]
9.

Current issues in medically assisted reproduction and genetics in Europe: research, clinical practice, ethics, legal issues and policy. European Society of Human Genetics and European Society of Human Reproduction and Embryology.

Harper JC, Geraedts J, Borry P, Cornel MC, Dondorp W, Gianaroli L, Harton G, Milachich T, Kääriäinen H, Liebaers I, Morris M, Sequeiros J, Sermon K, Shenfield F, Skirton H, Soini S, Spits C, Veiga A, Vermeesch JR, Viville S, de Wert G, Macek M Jr; ESHG; ESHRE; EuroGentest2.

Eur J Hum Genet. 2013 Nov;21 Suppl 2:S1-21. doi: 10.1038/ejhg.2013.219.

PMID:
24225486
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Next-generation sequencing: a frameshift in skeletal dysplasia gene discovery.

Lazarus S, Zankl A, Duncan EL.

Osteoporos Int. 2014 Feb;25(2):407-22. doi: 10.1007/s00198-013-2443-1. Epub 2013 Aug 1.

PMID:
23903953
[PubMed - in process]
11.

Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model.

Németh AH, Kwasniewska AC, Lise S, Parolin Schnekenberg R, Becker EB, Bera KD, Shanks ME, Gregory L, Buck D, Zameel Cader M, Talbot K, de Silva R, Fletcher N, Hastings R, Jayawant S, Morrison PJ, Worth P, Taylor M, Tolmie J, O'Regan M; UK Ataxia Consortium, Valentine R, Packham E, Evans J, Seller A, Ragoussis J.

Brain. 2013 Oct;136(Pt 10):3106-18. doi: 10.1093/brain/awt236. Epub 2013 Sep 11.

PMID:
24030952
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Identification of genetic risk variants for deep vein thrombosis by multiplexed next-generation sequencing of 186 hemostatic/pro-inflammatory genes.

Lotta LA, Wang M, Yu J, Martinelli I, Yu F, Passamonti SM, Consonni D, Pappalardo E, Menegatti M, Scherer SE, Lewis LL, Akbar H, Wu Y, Bainbridge MN, Muzny DM, Mannucci PM, Gibbs RA, Peyvandi F.

BMC Med Genomics. 2012 Feb 21;5:7. doi: 10.1186/1755-8794-5-7.

PMID:
22353194
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Current issues in medically assisted reproduction and genetics in Europe: research, clinical practice, ethics, legal issues and policy.

Harper J, Geraedts J, Borry P, Cornel MC, Dondorp WJ, Gianaroli L, Harton G, Milachich T, Kääriäinen H, Liebaers I, Morris M, Sequeiros J, Sermon K, Shenfield F, Skirton H, Soini S, Spits C, Veiga A, Vermeesch JR, Viville S, de Wert G, Macek M Jr; ESHG, ESHRE and EuroGentest2.

Hum Reprod. 2014 Aug;29(8):1603-9. doi: 10.1093/humrep/deu130. Epub 2014 Jul 8.

PMID:
25006203
[PubMed - in process]
14.

Next-generation sequencing applied to rare diseases genomics.

Danielsson K, Mun LJ, Lordemann A, Mao J, Lin CH.

Expert Rev Mol Diagn. 2014 May;14(4):469-87. doi: 10.1586/14737159.2014.904749. Epub 2014 Apr 4.

PMID:
24702023
[PubMed - in process]
15.

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
[PubMed - indexed for MEDLINE]
16.

The challenge for the next generation of medical geneticists.

Frebourg T.

Hum Mutat. 2014 Aug;35(8):909-11. doi: 10.1002/humu.22592. Epub 2014 Jun 28.

PMID:
24838402
[PubMed - in process]
17.

Next generation sequencing in the clinical domain: clinical advantages, practical, and ethical challenges.

Thompson R, Drew CJ, Thomas RH.

Adv Protein Chem Struct Biol. 2012;89:27-63. doi: 10.1016/B978-0-12-394287-6.00002-1. Review.

PMID:
23046881
[PubMed - indexed for MEDLINE]
18.

Next-generation sequencing applied to molecular diagnostics.

Natrajan R, Reis-Filho JS.

Expert Rev Mol Diagn. 2011 May;11(4):425-44. doi: 10.1586/erm.11.18.

PMID:
21545259
[PubMed - indexed for MEDLINE]
19.

The changing landscape of genetic testing and its impact on clinical and laboratory services and research in Europe.

Hastings R, de Wert G, Fowler B, Krawczak M, Vermeulen E, Bakker E, Borry P, Dondorp W, Nijsingh N, Barton D, Schmidtke J, van El CG, Vermeesch J, Stol Y, Carmen Howard H, Cornel MC.

Eur J Hum Genet. 2012 Sep;20(9):911-6. doi: 10.1038/ejhg.2012.56. Epub 2012 Mar 28.

PMID:
22453292
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Next-generation DNA sequencing-based assay for measuring allelic expression imbalance (AEI) of candidate neuropsychiatric disorder genes in human brain.

Xu X, Wang H, Zhu M, Sun Y, Tao Y, He Q, Wang J, Chen L, Saffen D.

BMC Genomics. 2011 Oct 20;12:518. doi: 10.1186/1471-2164-12-518.

PMID:
22013986
[PubMed - indexed for MEDLINE]
Free PMC Article

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