These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

394 related articles for article (PubMed ID: 23752795)

  • 1. Sequencing studies in human genetics: design and interpretation.
    Goldstein DB; Allen A; Keebler J; Margulies EH; Petrou S; Petrovski S; Sunyaev S
    Nat Rev Genet; 2013 Jul; 14(7):460-70. PubMed ID: 23752795
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Design of association studies with pooled or un-pooled next-generation sequencing data.
    Kim SY; Li Y; Guo Y; Li R; Holmkvist J; Hansen T; Pedersen O; Wang J; Nielsen R
    Genet Epidemiol; 2010 Jul; 34(5):479-91. PubMed ID: 20552648
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Revisiting Mendelian disorders through exome sequencing.
    Ku CS; Naidoo N; Pawitan Y
    Hum Genet; 2011 Apr; 129(4):351-70. PubMed ID: 21331778
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Unlocking Mendelian disease using exome sequencing.
    Gilissen C; Hoischen A; Brunner HG; Veltman JA
    Genome Biol; 2011 Sep; 12(9):228. PubMed ID: 21920049
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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. PubMed ID: 22832387
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Discovery of mutations for Mendelian disorders.
    Alkuraya FS
    Hum Genet; 2016 Jun; 135(6):615-23. PubMed ID: 27068822
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Finding genes influencing susceptibility to complex diseases in the post-genome era.
    Rannala B
    Am J Pharmacogenomics; 2001; 1(3):203-21. PubMed ID: 12083968
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Resequencing of pooled DNA for detecting disease associations with rare variants.
    Wang T; Lin CY; Rohan TE; Ye K
    Genet Epidemiol; 2010 Jul; 34(5):492-501. PubMed ID: 20578089
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. Long-read genome sequencing identifies causal structural variation in a Mendelian disease.
    Merker JD; Wenger AM; Sneddon T; Grove M; Zappala Z; Fresard L; Waggott D; Utiramerur S; Hou Y; Smith KS; Montgomery SB; Wheeler M; Buchan JG; Lambert CC; Eng KS; Hickey L; Korlach J; Ford J; Ashley EA
    Genet Med; 2018 Jan; 20(1):159-163. PubMed ID: 28640241
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. Allele frequency analysis of variants reported to cause autosomal dominant inherited retinal diseases question the involvement of 19% of genes and 10% of reported pathogenic variants.
    Hanany M; Sharon D
    J Med Genet; 2019 Aug; 56(8):536-542. PubMed ID: 30910914
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Detecting Causal Variants in Mendelian Disorders Using Whole-Genome Sequencing.
    Hamzeh AR; Andrews TD; Field MA
    Methods Mol Biol; 2021; 2243():1-25. PubMed ID: 33606250
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Next-generation sequencing in childhood disorders.
    Schnekenberg RP; Németh AH
    Arch Dis Child; 2014 Mar; 99(3):284-90. PubMed ID: 24170689
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Approaches to identify genes for complex human diseases: lessons from Mendelian disorders.
    Dean M
    Hum Mutat; 2003 Oct; 22(4):261-74. PubMed ID: 12955713
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Next-generation sequencing approaches for genetic mapping of complex diseases.
    Casals F; Idaghdour Y; Hussin J; Awadalla P
    J Neuroimmunol; 2012 Jul; 248(1-2):10-22. PubMed ID: 22285396
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Reducing the exome search space for mendelian diseases using genetic linkage analysis of exome genotypes.
    Smith KR; Bromhead CJ; Hildebrand MS; Shearer AE; Lockhart PJ; Najmabadi H; Leventer RJ; McGillivray G; Amor DJ; Smith RJ; Bahlo M
    Genome Biol; 2011 Sep; 12(9):R85. PubMed ID: 21917141
    [TBL] [Abstract][Full Text] [Related]  

  • 18. How next-generation sequencing is transforming complex disease genetics.
    Kilpinen H; Barrett JC
    Trends Genet; 2013 Jan; 29(1):23-30. PubMed ID: 23103023
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Genetic Variation, Comparative Genomics, and the Diagnosis of Disease.
    Eichler EE
    N Engl J Med; 2019 Jul; 381(1):64-74. PubMed ID: 31269367
    [No Abstract]   [Full Text] [Related]  

  • 20. Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.
    LaDuca H; Farwell KD; Vuong H; Lu HM; Mu W; Shahmirzadi L; Tang S; Chen J; Bhide S; Chao EC
    PLoS One; 2017; 12(2):e0170843. PubMed ID: 28152038
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 20.