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Items: 1 to 20 of 86

1.

Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease gene.

Sobreira NL, Cirulli ET, Avramopoulos D, Wohler E, Oswald GL, Stevens EL, Ge D, Shianna KV, Smith JP, Maia JM, Gumbs CE, Pevsner J, Thomas G, Valle D, Hoover-Fong JE, Goldstein DB.

PLoS Genet. 2010 Jun 17;6(6):e1000991. doi: 10.1371/journal.pgen.1000991.

2.

Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome.

Bowen ME, Boyden ED, Holm IA, Campos-Xavier B, Bonafé L, Superti-Furga A, Ikegawa S, Cormier-Daire V, Bovée JV, Pansuriya TC, de Sousa SB, Savarirayan R, Andreucci E, Vikkula M, Garavelli L, Pottinger C, Ogino T, Sakai A, Regazzoni BM, Wuyts W, Sangiorgi L, Pedrini E, Zhu M, Kozakewich HP, Kasser JR, Seidman JG, Kurek KC, Warman ML.

PLoS Genet. 2011 Apr;7(4):e1002050. doi: 10.1371/journal.pgen.1002050. Epub 2011 Apr 14.

3.

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.

4.

Alport syndrome. Molecular genetic aspects.

Hertz JM.

Dan Med Bull. 2009 Aug;56(3):105-52.

PMID:
19728970
5.

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.

6.

CHCHD2 mutations in autosomal dominant late-onset Parkinson's disease: a genome-wide linkage and sequencing study.

Funayama M, Ohe K, Amo T, Furuya N, Yamaguchi J, Saiki S, Li Y, Ogaki K, Ando M, Yoshino H, Tomiyama H, Nishioka K, Hasegawa K, Saiki H, Satake W, Mogushi K, Sasaki R, Kokubo Y, Kuzuhara S, Toda T, Mizuno Y, Uchiyama Y, Ohno K, Hattori N.

Lancet Neurol. 2015 Mar;14(3):274-82. doi: 10.1016/S1474-4422(14)70266-2. Epub 2015 Feb 4.

PMID:
25662902
7.

Genome-wide studies of copy number variation and exome sequencing identify rare variants in BAG3 as a cause of dilated cardiomyopathy.

Norton N, Li D, Rieder MJ, Siegfried JD, Rampersaud E, Züchner S, Mangos S, Gonzalez-Quintana J, Wang L, McGee S, Reiser J, Martin E, Nickerson DA, Hershberger RE.

Am J Hum Genet. 2011 Mar 11;88(3):273-82. doi: 10.1016/j.ajhg.2011.01.016. Epub 2011 Feb 25.

8.

A novel nonsense mutation in CEP290 induces exon skipping and leads to a relatively mild retinal phenotype.

Littink KW, Pott JW, Collin RW, Kroes HY, Verheij JB, Blokland EA, de Castro Miró M, Hoyng CB, Klaver CC, Koenekoop RK, Rohrschneider K, Cremers FP, van den Born LI, den Hollander AI.

Invest Ophthalmol Vis Sci. 2010 Jul;51(7):3646-52. doi: 10.1167/iovs.09-5074. Epub 2010 Feb 3.

PMID:
20130272
9.

Linkage analysis and the study of Mendelian disease in the era of whole exome and genome sequencing.

Teare MD, Santibañez Koref MF.

Brief Funct Genomics. 2014 Sep;13(5):378-83. doi: 10.1093/bfgp/elu024. Epub 2014 Jul 14. Review.

PMID:
25024279
10.

Exome sequencing in a family segregating for celiac disease.

Szperl AM, Ricaño-Ponce I, Li JK, Deelen P, Kanterakis A, Plagnol V, van Dijk F, Westra HJ, Trynka G, Mulder CJ, Swertz M, Wijmenga C, Zheng HC.

Clin Genet. 2011 Aug;80(2):138-47. doi: 10.1111/j.1399-0004.2011.01714.x. Epub 2011 Jun 21.

PMID:
21627641
11.

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
12.

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. Epub 2011 Jul 5. Review.

PMID:
21730106
13.

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
14.

A genome-wide linkage scan for low spinal bone mineral density in a single extended family confirms linkage to 1p36.3.

Willaert A, Van Pottelbergh I, Zmierczak H, Goemaere S, Kaufman JM, De Paepe A, Coucke P.

Eur J Hum Genet. 2008 Aug;16(8):970-6. doi: 10.1038/ejhg.2008.31. Epub 2008 Feb 27.

15.

Exome sequencing identifies ZNF644 mutations in high myopia.

Shi Y, Li Y, Zhang D, Zhang H, Li Y, Lu F, Liu X, He F, Gong B, Cai L, Li R, Liao S, Ma S, Lin H, Cheng J, Zheng H, Shan Y, Chen B, Hu J, Jin X, Zhao P, Chen Y, Zhang Y, Lin Y, Li X, Fan Y, Yang H, Wang J, Yang Z.

PLoS Genet. 2011 Jun;7(6):e1002084. doi: 10.1371/journal.pgen.1002084. Epub 2011 Jun 9.

16.

Linkage analysis in the next-generation sequencing era.

Bailey-Wilson JE, Wilson AF.

Hum Hered. 2011;72(4):228-36. doi: 10.1159/000334381. Epub 2011 Dec 23. Review.

17.

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.

18.

[Exome sequencing and its application].

Zhang X, Li M, Zhang XJ.

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

PMID:
21831801
19.

A novel VCP mutation as the cause of atypical IBMPFD in a Chinese family.

Gu JM, Ke YH, Yue H, Liu YJ, Zhang Z, Zhang H, Hu WW, Wang C, He JW, Hu YQ, Li M, Fu WZ, Zhang ZL.

Bone. 2013 Jan;52(1):9-16. doi: 10.1016/j.bone.2012.09.012. Epub 2012 Sep 19.

PMID:
23000505
20.

Novel mutations in MERTK associated with childhood onset rod-cone dystrophy.

Mackay DS, Henderson RH, Sergouniotis PI, Li Z, Moradi P, Holder GE, Waseem N, Bhattacharya SS, Aldahmesh MA, Alkuraya FS, Meyer B, Webster AR, Moore AT.

Mol Vis. 2010 Mar 9;16:369-77.

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