399 related articles for article (PubMed ID: 22275248)
1. 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]
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. 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]
4. 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]
5. 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]
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. [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. PubMed ID: 21983726
[TBL] [Abstract][Full Text] [Related]
8. Exome and genome analysis as a tool for disease identification and treatment: the 2011 Human Genome Variation Society scientific meeting.
Oetting WS
Hum Mutat; 2012 Mar; 33(3):586-90. PubMed ID: 22213110
[TBL] [Abstract][Full Text] [Related]
9. Application of variant-calling algorithms for Mendelian disorders: lessons from whole-exome sequencing in Charcot-Marie-Tooth disease.
Hong YB; Jung J; Jung SC; Chung KW; Choi BO
Clin Genet; 2014 Sep; 86(3):298-9. PubMed ID: 24131476
[No Abstract] [Full Text] [Related]
10. 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]
11. Genetic diagnosis of neuroacanthocytosis disorders using exome sequencing.
Walker RH; Schulz VP; Tikhonova IR; Mahajan MC; Mane S; Arroyo Muniz M; Gallagher PG
Mov Disord; 2012 Apr; 27(4):539-43. PubMed ID: 22038564
[TBL] [Abstract][Full Text] [Related]
12. [Application of whole exome sequencing in the diagnosis of hereditary neurological diseases].
Ilinsky VV; Korneeva VA; Shatalov PA
Zh Nevrol Psikhiatr Im S S Korsakova; 2015; 115(1):45-52. PubMed ID: 25909789
[TBL] [Abstract][Full Text] [Related]
13. Next generation sequencing--implications for clinical practice.
Raffan E; Semple RK
Br Med Bull; 2011; 99():53-71. PubMed ID: 21705347
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. Exome sequencing: a transient technology for molecular diagnostics?
Ku CS; Cooper DN
Expert Rev Mol Diagn; 2012 Apr; 12(3):211-4. PubMed ID: 22468808
[No Abstract] [Full Text] [Related]
16. Targeted high throughput sequencing of a cancer-related exome subset by specific sequence capture with a fully automated microarray platform.
Summerer D; Schracke N; Wu H; Cheng Y; Bau S; Stähler CF; Stähler PF; Beier M
Genomics; 2010 Apr; 95(4):241-6. PubMed ID: 20138981
[TBL] [Abstract][Full Text] [Related]
17. 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. PubMed ID: 22555275
[TBL] [Abstract][Full Text] [Related]
18. Simple and efficient identification of rare recessive pathologically important sequence variants from next generation exome sequence data.
Carr IM; Morgan J; Watson C; Melnik S; Diggle CP; Logan CV; Harrison SM; Taylor GR; Pena SD; Markham AF; Alkuraya FS; Black GC; Ali M; Bonthron DT
Hum Mutat; 2013 Jul; 34(7):945-52. PubMed ID: 23554237
[TBL] [Abstract][Full Text] [Related]
19. Clinical exome sequencing in neurogenetic and neuropsychiatric disorders.
Fogel BL; Lee H; Strom SP; Deignan JL; Nelson SF
Ann N Y Acad Sci; 2016 Feb; 1366(1):49-60. PubMed ID: 26250888
[TBL] [Abstract][Full Text] [Related]
20. Whole-genome and whole-exome sequencing in hereditary cancer: impact on genetic testing and counseling.
O'Daniel JM; Lee K
Cancer J; 2012; 18(4):287-92. PubMed ID: 22846728
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
