264 related articles for article (PubMed ID: 24279917)
1. Impact of next generation sequencing on diagnostics in a genetic skin disease clinic.
Takeichi T; Nanda A; Liu L; Salam A; Campbell P; Fong K; Akiyama M; Ozoemena L; Stone KL; Al-Ajmi H; Simpson MA; McGrath JA
Exp Dermatol; 2013 Dec; 22(12):825-31. PubMed ID: 24279917
[TBL] [Abstract][Full Text] [Related]
2. Developing genome and exome sequencing for candidate gene identification in inherited disorders: an integrated technical and bioinformatics approach.
Coonrod EM; Durtschi JD; Margraf RL; Voelkerding KV
Arch Pathol Lab Med; 2013 Mar; 137(3):415-33. PubMed ID: 22770468
[TBL] [Abstract][Full Text] [Related]
3. Next generation diagnostics of heritable connective tissue disorders.
Salam A; Simpson MA; Stone KL; Takeichi T; Nanda A; Akiyama M; McGrath JA
Matrix Biol; 2014 Jan; 33():35-40. PubMed ID: 23896220
[TBL] [Abstract][Full Text] [Related]
4. Translating exome sequencing from research to clinical diagnostics.
Coonrod EM; Margraf RL; Voelkerding KV
Clin Chem Lab Med; 2011 Dec; 50(7):1161-8. PubMed ID: 22850020
[TBL] [Abstract][Full Text] [Related]
5. Technological advances in DNA sequence enrichment and sequencing for germline genetic diagnosis.
Ku CS; Wu M; Cooper DN; Naidoo N; Pawitan Y; Pang B; Iacopetta B; Soong R
Expert Rev Mol Diagn; 2012 Mar; 12(2):159-73. PubMed ID: 22369376
[TBL] [Abstract][Full Text] [Related]
6. Expanding DNA diagnostic panel testing: is more better?
Klee EW; Hoppman-Chaney NL; Ferber MJ
Expert Rev Mol Diagn; 2011 Sep; 11(7):703-9. PubMed ID: 21902532
[TBL] [Abstract][Full Text] [Related]
7. Next generation molecular diagnosis of mitochondrial disorders.
Wong LJ
Mitochondrion; 2013 Jul; 13(4):379-87. PubMed ID: 23473862
[TBL] [Abstract][Full Text] [Related]
8. The promise and challenges of next-generation genome sequencing for clinical care.
Johansen Taber KA; Dickinson BD; Wilson M
JAMA Intern Med; 2014 Feb; 174(2):275-80. PubMed ID: 24217348
[TBL] [Abstract][Full Text] [Related]
9. Progress in detecting genetic alterations and their association with human disease.
Schwartz CE; Chen CF
J Mol Biol; 2013 Nov; 425(21):3914-8. PubMed ID: 23876707
[TBL] [Abstract][Full Text] [Related]
10. 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. PubMed ID: 22275248
[TBL] [Abstract][Full Text] [Related]
11. Whole-exome sequencing reveals recurrent somatic mutation networks in cancer.
Liu X; Wang J; Chen L
Cancer Lett; 2013 Nov; 340(2):270-6. PubMed ID: 23153794
[TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 21730106
[TBL] [Abstract][Full Text] [Related]
13. Whole-exome/genome sequencing and genomics.
Grody WW; Thompson BH; Hudgins L
Pediatrics; 2013 Dec; 132(Suppl 3):S211-5. PubMed ID: 24298129
[TBL] [Abstract][Full Text] [Related]
14. Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing.
Timal S; Hoischen A; Lehle L; Adamowicz M; Huijben K; Sykut-Cegielska J; Paprocka J; Jamroz E; van Spronsen FJ; Körner C; Gilissen C; Rodenburg RJ; Eidhof I; Van den Heuvel L; Thiel C; Wevers RA; Morava E; Veltman J; Lefeber DJ
Hum Mol Genet; 2012 Oct; 21(19):4151-61. PubMed ID: 22492991
[TBL] [Abstract][Full Text] [Related]
15. 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. PubMed ID: 23716478
[TBL] [Abstract][Full Text] [Related]
16. Opportunities and technical challenges in next-generation sequencing for diagnosis of rare pediatric diseases.
Bacchelli C; Williams HJ
Expert Rev Mol Diagn; 2016 Oct; 16(10):1073-1082. PubMed ID: 27560481
[TBL] [Abstract][Full Text] [Related]
17. Revealing the human mutome.
Chen JM; Férec C; Cooper DN
Clin Genet; 2010 Oct; 78(4):310-20. PubMed ID: 20569258
[TBL] [Abstract][Full Text] [Related]
18. Whole exome and whole genome sequencing.
Bick D; Dimmock D
Curr Opin Pediatr; 2011 Dec; 23(6):594-600. PubMed ID: 21881504
[TBL] [Abstract][Full Text] [Related]
19. 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. PubMed ID: 22468815
[TBL] [Abstract][Full Text] [Related]
20. Application of next generation sequencing to molecular diagnosis of inherited diseases.
Zhang W; Cui H; Wong LJ
Top Curr Chem; 2014; 336():19-45. PubMed ID: 22576358
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
