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Items: 1 to 20 of 25

1.

Clinical application of exome sequencing in undiagnosed genetic conditions.

Need AC, Shashi V, Hitomi Y, Schoch K, Shianna KV, McDonald MT, Meisler MH, Goldstein DB.

J Med Genet. 2012 Jun;49(6):353-61. doi: 10.1136/jmedgenet-2012-100819. Epub 2012 May 11.

2.

Exome sequencing identifies a de novo SCN2A mutation in a patient with intractable seizures, severe intellectual disability, optic atrophy, muscular hypotonia, and brain abnormalities.

Baasch AL, Hüning I, Gilissen C, Klepper J, Veltman JA, Gillessen-Kaesbach G, Hoischen A, Lohmann K.

Epilepsia. 2014 Apr;55(4):e25-9. doi: 10.1111/epi.12554. Epub 2014 Mar 1. Review.

3.

The Rise and Rise of Exome Sequencing.

Ku CS, Cooper DN, Patrinos GP.

Public Health Genomics. 2016;19(6):315-324. doi: 10.1159/000450991. Epub 2016 Nov 30. Review.

4.

Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care.

Sawyer SL, Hartley T, Dyment DA, Beaulieu CL, Schwartzentruber J, Smith A, Bedford HM, Bernard G, Bernier FP, Brais B, Bulman DE, Warman Chardon J, Chitayat D, Deladoëy J, Fernandez BA, Frosk P, Geraghty MT, Gerull B, Gibson W, Gow RM, Graham GE, Green JS, Heon E, Horvath G, Innes AM, Jabado N, Kim RH, Koenekoop RK, Khan A, Lehmann OJ, Mendoza-Londono R, Michaud JL, Nikkel SM, Penney LS, Polychronakos C, Richer J, Rouleau GA, Samuels ME, Siu VM, Suchowersky O, Tarnopolsky MA, Yoon G, Zahir FR; FORGE Canada Consortium; Care4Rare Canada Consortium, Majewski J, Boycott KM.

Clin Genet. 2016 Mar;89(3):275-84. doi: 10.1111/cge.12654. Epub 2015 Sep 22. Review.

5.

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.

6.

Exome sequencing for gene discovery in lethal fetal disorders--harnessing the value of extreme phenotypes.

Filges I, Friedman JM.

Prenat Diagn. 2015 Oct;35(10):1005-9. doi: 10.1002/pd.4464. Epub 2014 Aug 22. Review.

PMID:
25046514
7.

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
8.

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
9.

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
10.

[Genetic testing in the fetus and child].

Bartholdi D, Miny P.

Ther Umsch. 2013 Nov;70(11):621-31. doi: 10.1024/0040-5930/a000457. Review. German.

PMID:
24168795
11.

[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
12.

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
13.

Solving the molecular diagnostic testing conundrum for Mendelian disorders in the era of next-generation sequencing: single-gene, gene panel, or exome/genome sequencing.

Xue Y, Ankala A, Wilcox WR, Hegde MR.

Genet Med. 2015 Jun;17(6):444-51. doi: 10.1038/gim.2014.122. Epub 2014 Sep 18. Review.

PMID:
25232854
14.

Disease gene identification strategies for exome sequencing.

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

Eur J Hum Genet. 2012 May;20(5):490-7. doi: 10.1038/ejhg.2011.258. Epub 2012 Jan 18. Review.

15.

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
16.

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.

17.

Next generation sequencing techniques in neurological diseases: redefining clinical and molecular associations.

Guerreiro R, Brás J, Hardy J, Singleton A.

Hum Mol Genet. 2014 Sep 15;23(R1):R47-53. doi: 10.1093/hmg/ddu203. Epub 2014 May 2. Review.

18.

The cytoplasmic peptide:N-glycanase (Ngly1)-basic science encounters a human genetic disorder.

Suzuki T.

J Biochem. 2015 Jan;157(1):23-34. doi: 10.1093/jb/mvu068. Epub 2014 Nov 13. Review.

PMID:
25398991
19.

Adopting orphans: comprehensive genetic testing of Mendelian diseases of childhood by next-generation sequencing.

Kingsmore SF, Dinwiddie DL, Miller NA, Soden SE, Saunders CJ.

Expert Rev Mol Diagn. 2011 Nov;11(8):855-68. doi: 10.1586/erm.11.70. Review.

20.

Identifying Highly Penetrant Disease Causal Mutations Using Next Generation Sequencing: Guide to Whole Process.

Erzurumluoglu AM, Rodriguez S, Shihab HA, Baird D, Richardson TG, Day IN, Gaunt TR.

Biomed Res Int. 2015;2015:923491. doi: 10.1155/2015/923491. Epub 2015 Apr 6. Review.

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