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Results: 11

1.

Comprehensive next-generation sequence analyses of the entire mitochondrial genome reveal new insights into the molecular diagnosis of mitochondrial DNA disorders.

Cui H, Li F, Chen D, Wang G, Truong CK, Enns GM, Graham B, Milone M, Landsverk ML, Wang J, Zhang W, Wong LJ.

Genet Med. 2013 May;15(5):388-94. doi: 10.1038/gim.2012.144. Epub 2013 Jan 3.

PMID:
23288206
[PubMed - indexed for MEDLINE]
2.

Challenges of bringing next generation sequencing technologies to clinical molecular diagnostic laboratories.

Wong LJ.

Neurotherapeutics. 2013 Apr;10(2):262-72. doi: 10.1007/s13311-012-0170-5. Review.

PMID:
23269496
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Next generation molecular diagnosis of mitochondrial disorders.

Wong LJ.

Mitochondrion. 2013 Jul;13(4):379-87. doi: 10.1016/j.mito.2013.02.001. Epub 2013 Mar 6. Review.

PMID:
23473862
[PubMed - indexed for MEDLINE]
4.

Molecular genetic testing for mitochondrial disease: from one generation to the next.

McCormick E, Place E, Falk MJ.

Neurotherapeutics. 2013 Apr;10(2):251-61. doi: 10.1007/s13311-012-0174-1. Review.

PMID:
23269497
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Molecular genetics of mitochondrial disorders.

Wong LJ.

Dev Disabil Res Rev. 2010 Jun;16(2):154-62. doi: 10.1002/ddrr.104. Review.

PMID:
20818730
[PubMed - indexed for MEDLINE]
6.

Diagnostic challenges of mitochondrial disorders: complexities of two genomes.

Graham BH.

Methods Mol Biol. 2012;837:35-46. doi: 10.1007/978-1-61779-504-6_3. Review.

PMID:
22215539
[PubMed - indexed for MEDLINE]
7.

Application of next generation sequencing to molecular diagnosis of inherited diseases.

Zhang W, Cui H, Wong LJ.

Top Curr Chem. 2014;336:19-45. doi: 10.1007/128_2012_325. Review.

PMID:
22576358
[PubMed - indexed for MEDLINE]
8.

What is next generation sequencing?

Behjati S, Tarpey PS.

Arch Dis Child Educ Pract Ed. 2013 Dec;98(6):236-8. doi: 10.1136/archdischild-2013-304340. Epub 2013 Aug 28. Review.

PMID:
23986538
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Impacts of massively parallel sequencing for genetic diagnosis of neuromuscular disorders.

Vasli N, Laporte J.

Acta Neuropathol. 2013 Feb;125(2):173-85. doi: 10.1007/s00401-012-1072-7. Epub 2012 Dec 7. Review.

PMID:
23224362
[PubMed - indexed for MEDLINE]
10.

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. 2014 Sep 18. doi: 10.1038/gim.2014.122. [Epub ahead of print] Review.

PMID:
25232854
[PubMed - as supplied by publisher]
11.

Approaches to determination of a full profile of blood group genotypes: single nucleotide variant mapping and massively parallel sequencing.

McBean RS, Hyland CA, Flower RL.

Comput Struct Biotechnol J. 2014 Sep 23;11(19):147-51. doi: 10.1016/j.csbj.2014.09.009. eCollection 2014 Sep. Review.

PMID:
25408849
[PubMed]
Free PMC Article

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