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Results: 18

Related Articles by Review for PubMed (Select 22363784)

1.

Challenges in whole exome sequencing: an example from hereditary deafness.

Sirmaci A, Edwards YJ, Akay H, Tekin M.

PLoS One. 2012;7(2):e32000. doi: 10.1371/journal.pone.0032000. Epub 2012 Feb 21.

2.

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
3.

[The application of exome sequencing in human disease].

Rao S, Du T, Xu Q.

Yi Chuan. 2014 Nov;36(11):1077-86. Review. Chinese.

PMID:
25567866
4.

Exome sequencing greatly expedites the progressive research of Mendelian diseases.

Zhang X.

Front Med. 2014 Mar;8(1):42-57. doi: 10.1007/s11684-014-0303-9. Epub 2014 Jan 3. Review.

PMID:
24384736
5.

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
6.

Unlocking Mendelian disease using exome sequencing.

Gilissen C, Hoischen A, Brunner HG, Veltman JA.

Genome Biol. 2011 Sep 14;12(9):228. doi: 10.1186/gb-2011-12-9-228. Review.

7.

[Application of whole exome sequencing in the diagnosis of hereditary neurological diseases].

Ilinsky VV, Korneeva VA, Shatalov PA.

Zh Nevrol Psikhiatr Im S S Korsakova. 2015;115(1):45-52. Review. Russian.

PMID:
25909789
8.

Exome sequencing: new insights into lipoprotein disorders.

Farhan SM, Hegele RA.

Curr Cardiol Rep. 2014 Jul;16(7):507. doi: 10.1007/s11886-014-0507-2. Review.

PMID:
24893940
9.

Case-only exome sequencing and complex disease susceptibility gene discovery: study design considerations.

Wu L, Schaid DJ, Sicotte H, Wieben ED, Li H, Petersen GM.

J Med Genet. 2015 Jan;52(1):10-6. doi: 10.1136/jmedgenet-2014-102697. Epub 2014 Nov 4. Review.

PMID:
25371537
10.

Next-generation sequencing in genetic hearing loss.

Yan D, Tekin M, Blanton SH, Liu XZ.

Genet Test Mol Biomarkers. 2013 Aug;17(8):581-7. doi: 10.1089/gtmb.2012.0464. Epub 2013 Jun 5. Review.

11.

Diagnostic clinical genome and exome sequencing.

Biesecker LG, Green RC.

N Engl J Med. 2014 Jun 19;370(25):2418-25. doi: 10.1056/NEJMra1312543. Review. No abstract available.

PMID:
24941179
12.

High-throughput sequencing to decipher the genetic heterogeneity of deafness.

Brownstein Z, Bhonker Y, Avraham KB.

Genome Biol. 2012 May 29;13(5):245. doi: 10.1186/gb-2012-13-5-245. Review.

13.

Discovery of single-gene inborn errors of immunity by next generation sequencing.

Conley ME, Casanova JL.

Curr Opin Immunol. 2014 Oct;30:17-23. doi: 10.1016/j.coi.2014.05.004. Epub 2014 Jun 2. Review.

PMID:
24886697
14.

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.

15.

Identification of genes for childhood heritable diseases.

Boycott KM, Dyment DA, Sawyer SL, Vanstone MR, Beaulieu CL.

Annu Rev Med. 2014;65:19-31. doi: 10.1146/annurev-med-101712-122108. Review.

PMID:
24422568
16.

An approach to pediatric exome and genome sequencing.

Biesecker LG, Biesecker BB.

Curr Opin Pediatr. 2014 Dec;26(6):639-45. doi: 10.1097/MOP.0000000000000150. Review.

PMID:
25304963
17.

The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities.

Chong JX, Buckingham KJ, Jhangiani SN, Boehm C, Sobreira N, Smith JD, Harrell TM, McMillin MJ, Wiszniewski W, Gambin T, Coban Akdemir ZH, Doheny K, Scott AF, Avramopoulos D, Chakravarti A, Hoover-Fong J, Mathews D, Witmer PD, Ling H, Hetrick K, Watkins L, Patterson KE, Reinier F, Blue E, Muzny D, Kircher M, Bilguvar K, López-Giráldez F, Sutton VR, Tabor HK, Leal SM, Gunel M, Mane S, Gibbs RA, Boerwinkle E, Hamosh A, Shendure J, Lupski JR, Lifton RP, Valle D, Nickerson DA; Centers for Mendelian Genomics, Bamshad MJ.

Am J Hum Genet. 2015 Aug 6;97(2):199-215. doi: 10.1016/j.ajhg.2015.06.009. Epub 2015 Jul 9. Review.

PMID:
26166479
18.

Exome sequencing: how to understand it.

Keogh MJ, Daud D, Chinnery PF.

Pract Neurol. 2013 Dec;13(6):399-407. doi: 10.1136/practneurol-2012-000498. Epub 2013 Jun 1. Review. No abstract available.

PMID:
23727621
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