Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 47

1.
2.

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
3.

[Exome sequencing: an efficient strategy for identifying the causative genes of monogenic disorders].

Rebiya N, Patamu M.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2011 Oct;28(5):525-7. doi: 10.3760/cma.j.issn.1003-9406.2011.05.011. Review. Chinese.

PMID:
21983726
4.

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.

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.

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
7.

Discovery of mutations for Mendelian disorders.

Alkuraya FS.

Hum Genet. 2016 Jun;135(6):615-23. doi: 10.1007/s00439-016-1664-8. Epub 2016 Apr 11. Review.

PMID:
27068822
8.

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
9.

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.

10.

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
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.

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
13.

Controversy and debate on clinical genomics sequencing-paper 2: clinical genome-wide sequencing: don't throw out the baby with the bathwater!

Adam S, Friedman JM.

J Clin Epidemiol. 2017 Dec;92:7-10. doi: 10.1016/j.jclinepi.2017.08.020. Epub 2017 Sep 12. Review.

PMID:
28916491
14.

[Strategies for exome sequence data analysis for discovering genes underlying autosomal recessive disorders].

Zhan ZX, Hu ZT, Shen L.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2012 Oct;29(5):558-61. doi: 10.3760/cma.j.issn.1003-9406.2012.05.012. Review. Chinese.

PMID:
23042393
15.

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.

16.

Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders.

Fokstuen S, Makrythanasis P, Hammar E, Guipponi M, Ranza E, Varvagiannis K, Santoni FA, Albarca-Aguilera M, Poleggi ME, Couchepin F, Brockmann C, Mauron A, Hurst SA, Moret C, Gehrig C, Vannier A, Bevillard J, Araud T, Gimelli S, Stathaki E, Paoloni-Giacobino A, Bottani A, Sloan-Béna F, Sizonenko LD, Mostafavi M, Hamamy H, Nouspikel T, Blouin JL, Antonarakis SE.

Hum Genomics. 2016 Jun 28;10(1):24. doi: 10.1186/s40246-016-0080-4. Review.

17.

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
18.

Gene discovery in familial cancer syndromes by exome sequencing: prospects for the elucidation of familial colorectal cancer type X.

Ku CS, Cooper DN, Wu M, Roukos DH, Pawitan Y, Soong R, Iacopetta B.

Mod Pathol. 2012 Aug;25(8):1055-68. doi: 10.1038/modpathol.2012.62. Epub 2012 Apr 20. Review.

19.

Computational and statistical approaches to analyzing variants identified by exome sequencing.

Stitziel NO, Kiezun A, Sunyaev S.

Genome Biol. 2011 Sep 14;12(9):227. doi: 10.1186/gb-2011-12-9-227. Review.

20.

Exome and genome sequencing for inborn errors of immunity.

Meyts I, Bosch B, Bolze A, Boisson B, Itan Y, Belkadi A, Pedergnana V, Moens L, Picard C, Cobat A, Bossuyt X, Abel L, Casanova JL.

J Allergy Clin Immunol. 2016 Oct;138(4):957-969. doi: 10.1016/j.jaci.2016.08.003. Review.

Supplemental Content

Support Center