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Items: 1 to 20 of 366

1.

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. Review.

PMID:
21331778
2.

Finding disease variants in Mendelian disorders by using sequence data: methods and applications.

Ionita-Laza I, Makarov V, Yoon S, Raby B, Buxbaum J, Nicolae DL, Lin X.

Am J Hum Genet. 2011 Dec 9;89(6):701-12. doi: 10.1016/j.ajhg.2011.11.003.

3.

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. Review.

PMID:
22832387
4.

What can exome sequencing do for you?

Majewski J, Schwartzentruber J, Lalonde E, Montpetit A, Jabado N.

J Med Genet. 2011 Sep;48(9):580-9. doi: 10.1136/jmedgenet-2011-100223. Review.

PMID:
21730106
5.

[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
6.

Unexpected allelic heterogeneity and spectrum of mutations in Fowler syndrome revealed by next-generation exome sequencing.

Lalonde E, Albrecht S, Ha KC, Jacob K, Bolduc N, Polychronakos C, Dechelotte P, Majewski J, Jabado N.

Hum Mutat. 2010 Aug;31(8):918-23. doi: 10.1002/humu.21293.

PMID:
20518025
7.

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. Review.

PMID:
24384736
8.

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
9.

Exome sequencing: dual role as a discovery and diagnostic tool.

Ku CS, Cooper DN, Polychronakos C, Naidoo N, Wu M, Soong R.

Ann Neurol. 2012 Jan;71(1):5-14. doi: 10.1002/ana.22647. Review.

PMID:
22275248
10.

Strategies for exome and genome sequence data analysis in disease-gene discovery projects.

Robinson PN, Krawitz P, Mundlos S.

Clin Genet. 2011 Aug;80(2):127-32. doi: 10.1111/j.1399-0004.2011.01713.x.

PMID:
21615730
11.

Exome sequencing identifies the cause of a mendelian disorder.

Ng SB, Buckingham KJ, Lee C, Bigham AW, Tabor HK, Dent KM, Huff CD, Shannon PT, Jabs EW, Nickerson DA, Shendure J, Bamshad MJ.

Nat Genet. 2010 Jan;42(1):30-5. doi: 10.1038/ng.499.

12.

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.

13.

Craniofacial disorders that have phenotypic overlap with Treacher Collins syndrome.

Green B, Nikkhah D, Cobb AR, Dunaway DJ.

J Plast Reconstr Aesthet Surg. 2013 Aug;66(8):e234-5. doi: 10.1016/j.bjps.2013.04.029. No abstract available.

PMID:
23664577
14.

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. Review.

15.

Exome-assistant: a rapid and easy detection of disease-related genes and genetic variations from exome sequencing.

Liu Q, Shen E, Min Q, Li X, Wang X, Li X, Sun ZS, Wu J.

BMC Genomics. 2012 Dec 11;13:692. doi: 10.1186/1471-2164-13-692.

16.

MLL2 and KDM6A mutations in patients with Kabuki syndrome.

Miyake N, Koshimizu E, Okamoto N, Mizuno S, Ogata T, Nagai T, Kosho T, Ohashi H, Kato M, Sasaki G, Mabe H, Watanabe Y, Yoshino M, Matsuishi T, Takanashi J, Shotelersuk V, Tekin M, Ochi N, Kubota M, Ito N, Ihara K, Hara T, Tonoki H, Ohta T, Saito K, Matsuo M, Urano M, Enokizono T, Sato A, Tanaka H, Ogawa A, Fujita T, Hiraki Y, Kitanaka S, Matsubara Y, Makita T, Taguri M, Nakashima M, Tsurusaki Y, Saitsu H, Yoshiura K, Matsumoto N, Niikawa N.

Am J Med Genet A. 2013 Sep;161A(9):2234-43. doi: 10.1002/ajmg.a.36072.

PMID:
23913813
17.

Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromes.

Bramswig NC, Lüdecke HJ, Alanay Y, Albrecht B, Barthelmie A, Boduroglu K, Braunholz D, Caliebe A, Chrzanowska KH, Czeschik JC, Endele S, Graf E, Guillén-Navarro E, Kiper PÖ, López-González V, Parenti I, Pozojevic J, Utine GE, Wieland T, Kaiser FJ, Wollnik B, Strom TM, Wieczorek D.

Hum Genet. 2015 Jun;134(6):553-68. doi: 10.1007/s00439-015-1535-8.

PMID:
25724810
18.

An automatic and efficient pipeline for disease gene identification through utilizing family-based sequencing data.

Song D, Li N, Liao L.

Biomed Mater Eng. 2015;26 Suppl 1:S1797-803. doi: 10.3233/BME-151481.

PMID:
26405949
19.

Exome sequencing makes medical genomics a reality.

Biesecker LG.

Nat Genet. 2010 Jan;42(1):13-4. doi: 10.1038/ng0110-13.

PMID:
20037612
20.

A mutation screen in patients with Kabuki syndrome.

Li Y, Bögershausen N, Alanay Y, Simsek Kiper PO, Plume N, Keupp K, Pohl E, Pawlik B, Rachwalski M, Milz E, Thoenes M, Albrecht B, Prott EC, Lehmkühler M, Demuth S, Utine GE, Boduroglu K, Frankenbusch K, Borck G, Gillessen-Kaesbach G, Yigit G, Wieczorek D, Wollnik B.

Hum Genet. 2011 Dec;130(6):715-24. doi: 10.1007/s00439-011-1004-y.

PMID:
21607748
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