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Results: 1 to 20 of 87

1.

Whole exome sequencing of intracranial aneurysm.

Foroud T; FIA Study Investigators.

Stroke. 2013 Jun;44(6 Suppl 1):S26-8. doi: 10.1161/STROKEAHA.113.001174. Review. No abstract available.

PMID:
23709719
[PubMed - indexed for MEDLINE]
Free Article
2.

Exome sequencing as a tool for Mendelian disease gene discovery.

Bamshad MJ, Ng SB, Bigham AW, Tabor HK, Emond MJ, Nickerson DA, Shendure J.

Nat Rev Genet. 2011 Sep 27;12(11):745-55. doi: 10.1038/nrg3031. Review.

PMID:
21946919
[PubMed - indexed for MEDLINE]
3.

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
[PubMed - indexed for MEDLINE]
4.

Exome sequencing: a transient technology for molecular diagnostics?

Ku CS, Cooper DN.

Expert Rev Mol Diagn. 2012 Apr;12(3):211-4. doi: 10.1586/erm.12.3. No abstract available.

PMID:
22468808
[PubMed - indexed for MEDLINE]
5.

Detecting identity by descent and homozygosity mapping in whole-exome sequencing data.

Zhuang Z, Gusev A, Cho J, Pe'er I.

PLoS One. 2012;7(10):e47618. doi: 10.1371/journal.pone.0047618. Epub 2012 Oct 11.

PMID:
23071825
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Exome sequencing of a multigenerational human pedigree.

Hedges DJ, Burges D, Powell E, Almonte C, Huang J, Young S, Boese B, Schmidt M, Pericak-Vance MA, Martin E, Zhang X, Harkins TT, Züchner S.

PLoS One. 2009 Dec 14;4(12):e8232. doi: 10.1371/journal.pone.0008232. Erratum in: PLoS One. 2009;4(12). doi: 10.1371/annotation/b0fe9dd5-16e1-4b50-b590-263518fbd5eb. Hedges, Dale [corrected to Hedges, Dale J].

PMID:
20011588
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

TGM6 identified as a novel causative gene of spinocerebellar ataxias using exome sequencing.

Wang JL, Yang X, Xia K, Hu ZM, Weng L, Jin X, Jiang H, Zhang P, Shen L, Guo JF, Li N, Li YR, Lei LF, Zhou J, Du J, Zhou YF, Pan Q, Wang J, Wang J, Li RQ, Tang BS.

Brain. 2010 Dec;133(Pt 12):3510-8. doi: 10.1093/brain/awq323. Epub 2010 Nov 23.

PMID:
21106500
[PubMed - indexed for MEDLINE]
Free Article
8.

Whole exome and whole genome sequencing.

Bick D, Dimmock D.

Curr Opin Pediatr. 2011 Dec;23(6):594-600. doi: 10.1097/MOP.0b013e32834b20ec. Review.

PMID:
21881504
[PubMed - indexed for MEDLINE]
9.

Whole exome sequencing.

Nuytemans K, Vance JM.

Rinsho Shinkeigaku. 2010 Nov;50(11):952-5. Review. No abstract available.

PMID:
21921524
[PubMed - indexed for MEDLINE]
10.

Whole human exome capture for high-throughput sequencing.

Kim DW, Nam SH, Kim RN, Choi SH, Park HS.

Genome. 2010 Jul;53(7):568-74. doi: 10.1139/g10-025.

PMID:
20616878
[PubMed - indexed for MEDLINE]
11.

Exome resequencing combined with linkage analysis identifies novel PTH1R variants in primary failure of tooth eruption in Japanese.

Yamaguchi T, Hosomichi K, Narita A, Shirota T, Tomoyasu Y, Maki K, Inoue I.

J Bone Miner Res. 2011 Jul;26(7):1655-61. doi: 10.1002/jbmr.385.

PMID:
21404329
[PubMed - indexed for MEDLINE]
12.

[Making good use of exome sequencing].

Jordan B.

Med Sci (Paris). 2010 Dec;26(12):1111-3. doi: 10.1051/medsci/201026121111. French. No abstract available.

PMID:
21187053
[PubMed - indexed for MEDLINE]
Free Article
13.

Exome sequencing identifies a founder frameshift mutation in an alternative exon of USH1C as the cause of autosomal recessive retinitis pigmentosa with late-onset hearing loss.

Khateb S, Zelinger L, Ben-Yosef T, Merin S, Crystal-Shalit O, Gross M, Banin E, Sharon D.

PLoS One. 2012;7(12):e51566. doi: 10.1371/journal.pone.0051566. Epub 2012 Dec 12.

PMID:
23251578
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Exome sequencing identifies rare deleterious mutations in DNA repair genes FANCC and BLM as potential breast cancer susceptibility alleles.

Thompson ER, Doyle MA, Ryland GL, Rowley SM, Choong DY, Tothill RW, Thorne H; kConFab, Barnes DR, Li J, Ellul J, Philip GK, Antill YC, James PA, Trainer AH, Mitchell G, Campbell IG.

PLoS Genet. 2012 Sep;8(9):e1002894. doi: 10.1371/journal.pgen.1002894. Epub 2012 Sep 27.

PMID:
23028338
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Clinical application of whole exome sequencing: not (yet) ready for primetime.

Sutton AL, Robin NH.

Curr Opin Pediatr. 2012 Dec;24(6):663-4. doi: 10.1097/MOP.0b013e32835a1996. No abstract available.

PMID:
23080129
[PubMed - indexed for MEDLINE]
16.

Exome sequencing for gene discovery: time to set standard criteria.

Klein C, König IR, Lohmann K.

Ann Neurol. 2012 Oct;72(4):627-8. doi: 10.1002/ana.23658. No abstract available.

PMID:
23109159
[PubMed - indexed for MEDLINE]
17.

Whole-genome and whole-exome sequencing in hereditary cancer: impact on genetic testing and counseling.

O'Daniel JM, Lee K.

Cancer J. 2012 Jul-Aug;18(4):287-92. doi: 10.1097/PPO.0b013e318262467e. Review.

PMID:
22846728
[PubMed - indexed for MEDLINE]
18.

[Exome sequencing and its application].

Zhang X, Li M, Zhang XJ.

Yi Chuan. 2011 Aug;33(8):847-56. Review. Chinese.

PMID:
21831801
[PubMed - indexed for MEDLINE]
19.

Exome sequencing identifies a novel multiple sclerosis susceptibility variant in the TYK2 gene.

Dyment DA, Cader MZ, Chao MJ, Lincoln MR, Morrison KM, Disanto G, Morahan JM, De Luca GC, Sadovnick AD, Lepage P, Montpetit A, Ebers GC, Ramagopalan SV.

Neurology. 2012 Jul 31;79(5):406-11. doi: 10.1212/WNL.0b013e3182616fc4. Epub 2012 Jun 27.

PMID:
22744673
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

High points and hurdles in the translation of genomics.

Waalen J.

Transl Res. 2012 Feb;159(2):61-3. doi: 10.1016/j.trsl.2011.10.013. Epub 2011 Nov 21. No abstract available.

PMID:
22243790
[PubMed - indexed for MEDLINE]
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