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Items: 1 to 20 of 80

1.

Whole-exome sequencing: discovering genetic causes of orthopaedic disorders.

Paria N, Copley LA, Herring JA, Kim HK, Richards BS, Sucato DJ, Wise CA, Rios JJ.

J Bone Joint Surg Am. 2013 Dec 4;95(23):e1851-8. doi: 10.2106/JBJS.L.01620. Review. No abstract available.

PMID:
24306708
2.

Special report: exome sequencing for clinical diagnosis of patients with suspected genetic disorders.

Blue Cross and Blue Shield Association.

Technol Eval Cent Assess Program Exec Summ. 2013 Aug;28(3):1-4. No abstract available.

PMID:
24066368
3.

Application of exome sequencing in the search for genetic causes of rare disorders of copper metabolism.

Fuchs SA, Harakalova M, van Haaften G, van Hasselt PM, Cuppen E, Houwen RH.

Metallomics. 2012 Jul;4(7):606-13. doi: 10.1039/c2mt20034a. Epub 2012 May 4. Review.

PMID:
22555275
4.

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
5.

Applications of next-generation whole exome sequencing.

Harding KE, Robertson NP.

J Neurol. 2014 Jun;261(6):1244-6. doi: 10.1007/s00415-014-7372-1. No abstract available.

PMID:
24838538
6.
7.

Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis.

Prada CE, Gonzaga-Jauregui C, Tannenbaum R, Penney S, Lupski JR, Hopkin RJ, Sutton VR.

Eur J Med Genet. 2014 Jul;57(7):339-44. doi: 10.1016/j.ejmg.2014.04.005. Epub 2014 Apr 24.

8.

Application of whole exome sequencing in undiagnosed inherited polyneuropathies.

Klein CJ, Middha S, Duan X, Wu Y, Litchy WJ, Gu W, Dyck PJ, Gavrilova RH, Smith DI, Kocher JP, Dyck PJ.

J Neurol Neurosurg Psychiatry. 2014 Nov;85(11):1265-72. doi: 10.1136/jnnp-2013-306740. Epub 2014 Mar 6.

PMID:
24604904
9.

Whole-exome sequencing in a family with a monozygotic twin pair concordant for autism spectrum disorder and a follow-up study.

Egawa J, Watanabe Y, Sugimoto A, Nunokawa A, Shibuya M, Igeta H, Inoue E, Hoya S, Orime N, Hayashi T, Sugiyama T, Someya T.

Psychiatry Res. 2015 Sep 30;229(1-2):599-601. doi: 10.1016/j.psychres.2015.07.018. Epub 2015 Jul 10.

PMID:
26189338
10.

Familial rhabdoid tumour 'avant la lettre'--from pathology review to exome sequencing and back again.

Witkowski L, Lalonde E, Zhang J, Albrecht S, Hamel N, Cavallone L, May ST, Nicholson JC, Coleman N, Murray MJ, Tauber PF, Huntsman DG, Schönberger S, Yandell D, Hasselblatt M, Tischkowitz MD, Majewski J, Foulkes WD.

J Pathol. 2013 Sep;231(1):35-43. doi: 10.1002/path.4225.

PMID:
23775540
11.

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
12.

Exome sequencing identifies UPF3B as the causative gene for a Chinese non-syndrome mental retardation pedigree.

Xu X, Zhang L, Tong P, Xun G, Su W, Xiong Z, Zhu T, Zheng Y, Luo S, Pan Y, Xia K, Hu Z.

Clin Genet. 2013 Jun;83(6):560-4. doi: 10.1111/cge.12014. Epub 2012 Sep 28.

PMID:
22957832
13.

Genome-wide linkage, exome sequencing and functional analyses identify ABCB6 as the pathogenic gene of dyschromatosis universalis hereditaria.

Liu H, Li Y, Hung KK, Wang N, Wang C, Chen X, Sheng D, Fu X, See K, Foo JN, Low H, Liany H, Irwan ID, Liu J, Yang B, Chen M, Yu Y, Yu G, Niu G, You J, Zhou Y, Ma S, Wang T, Yan X, Goh BK, Common JE, Lane BE, Sun Y, Zhou G, Lu X, Wang Z, Tian H, Cao Y, Chen S, Liu Q, Liu J, Zhang F.

PLoS One. 2014 Feb 3;9(2):e87250. doi: 10.1371/journal.pone.0087250. eCollection 2014.

14.

Developmental dysplasia of the hip: linkage mapping and whole exome sequencing identify a shared variant in CX3CR1 in all affected members of a large multigeneration family.

Feldman GJ, Parvizi J, Levenstien M, Scott K, Erickson JA, Fortina P, Devoto M, Peters CL.

J Bone Miner Res. 2013 Dec;28(12):2540-9. doi: 10.1002/jbmr.1999.

15.

Diagnosis with Multiple Epiphyseal Dysplasia Using Whole-exome Sequencing in a Chinese Family.

Liu HY, Xiao JF, Huang J, Wang Y, Wu D, Li T, Wang HD, Guo LJ, Guo QN, Xiao H, Lyu X, Yu ZH.

Chin Med J (Engl). 2017 Jan 5;130(1):104-107. doi: 10.4103/0366-6999.196568. No abstract available.

16.

Optimal unified approach for rare-variant association testing with application to small-sample case-control whole-exome sequencing studies.

Lee S, Emond MJ, Bamshad MJ, Barnes KC, Rieder MJ, Nickerson DA; NHLBI GO Exome Sequencing Project—ESP Lung Project Team, Christiani DC, Wurfel MM, Lin X.

Am J Hum Genet. 2012 Aug 10;91(2):224-37. doi: 10.1016/j.ajhg.2012.06.007. Epub 2012 Aug 2.

17.

A commentary on exome sequencing identifies a de novo mutation in HDAC8 associated with Cornelia de Lange syndrome.

Sun L.

J Hum Genet. 2014 Sep;59(9):479. doi: 10.1038/jhg.2014.68. Epub 2014 Aug 7. No abstract available.

PMID:
25102095
18.

The clinical utility of whole-exome sequencing in the context of rare diseases - the changing tides of medical practice.

Nguyen MT, Charlebois K.

Clin Genet. 2015 Oct;88(4):313-9. doi: 10.1111/cge.12546. Epub 2015 Jan 6. Review.

PMID:
25421945
19.

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.

20.

Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous families.

Makrythanasis P, Nelis M, Santoni FA, Guipponi M, Vannier A, Béna F, Gimelli S, Stathaki E, Temtamy S, Mégarbané A, Masri A, Aglan MS, Zaki MS, Bottani A, Fokstuen S, Gwanmesia L, Aliferis K, Bustamante Eduardo M, Stamoulis G, Psoni S, Kitsiou-Tzeli S, Fryssira H, Kanavakis E, Al-Allawi N, Sefiani A, Al Hait S, Elalaoui SC, Jalkh N, Al-Gazali L, Al-Jasmi F, Bouhamed HC, Abdalla E, Cooper DN, Hamamy H, Antonarakis SE.

Hum Mutat. 2014 Oct;35(10):1203-10. doi: 10.1002/humu.22617. Epub 2014 Aug 18.

PMID:
25044680

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