BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

101 related articles for article (PubMed ID: 24306708)

  • 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; 95(23):e1851-8. PubMed ID: 24306708
    [No Abstract]   [Full Text] [Related]  

  • 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. PubMed ID: 24066368
    [No Abstract]   [Full Text] [Related]  

  • 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. PubMed ID: 22555275
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 12(11):745-55. PubMed ID: 21946919
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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. PubMed ID: 22957832
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. 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. PubMed ID: 25421945
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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. PubMed ID: 25044680
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Autozygosity mapping with exome sequence data.
    Carr IM; Bhaskar S; O'Sullivan J; Aldahmesh MA; Shamseldin HE; Markham AF; Bonthron DT; Black G; Alkuraya FS
    Hum Mutat; 2013 Jan; 34(1):50-6. PubMed ID: 23090942
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Genetic variation: ExAC boosts clinical variant interpretation in rare diseases.
    Bahcall OG
    Nat Rev Genet; 2016 Sep; 17(10):584. PubMed ID: 27629930
    [No Abstract]   [Full Text] [Related]  

  • 11. 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):339-344. PubMed ID: 24769197
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Global Carrier Rates of Rare Inherited Disorders Using Population Exome Sequences.
    Fujikura K
    PLoS One; 2016; 11(5):e0155552. PubMed ID: 27219052
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Exome sequencing identifies a novel variant in ACTC1 associated with familial atrial septal defect.
    Greenway SC; McLeod R; Hume S; Roslin NM; Alvarez N; Giuffre M; Zhan SH; Shen Y; Preuss C; Andelfinger G; ; Jones SJ; Gerull B
    Can J Cardiol; 2014 Feb; 30(2):181-7. PubMed ID: 24461919
    [TBL] [Abstract][Full Text] [Related]  

  • 14. ExAC project pins down rare gene variants.
    Nature; 2016 Aug; 536(7616):249. PubMed ID: 27535499
    [No Abstract]   [Full Text] [Related]  

  • 15. Exome sequencing identifies a new candidate mutation for susceptibility to diabetes in a family with highly aggregated type 2 diabetes.
    Tanaka D; Nagashima K; Sasaki M; Funakoshi S; Kondo Y; Yasuda K; Koizumi A; Inagaki N
    Mol Genet Metab; 2013 May; 109(1):112-7. PubMed ID: 23499280
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Systematic search for rare variants in Finnish early-onset colorectal cancer patients.
    Tanskanen T; Gylfe AE; Katainen R; Taipale M; Renkonen-Sinisalo L; Järvinen H; Mecklin JP; Böhm J; Kilpivaara O; Pitkänen E; Palin K; Vahteristo P; Tuupanen S; Aaltonen LA
    Cancer Genet; 2015; 208(1-2):35-40. PubMed ID: 25749350
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Maturity-onset diabetes of the young type 5 in a family with diabetes and mild kidney disease diagnosed by whole exome sequencing.
    Wentworth JM; Lukic V; Bahlo M; Finlay M; Nguyen C; Morahan G; Harrison LC
    Intern Med J; 2014 Nov; 44(11):1137-40. PubMed ID: 25367728
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Identification of an HMGB3 frameshift mutation in a family with an X-linked colobomatous microphthalmia syndrome using whole-genome and X-exome sequencing.
    Scott AF; Mohr DW; Kasch LM; Barton JA; Pittiglio R; Ingersoll R; Craig B; Marosy BA; Doheny KF; Bromley WC; Roderick TH; Chassaing N; Calvas P; Prabhu SS; Jabs EW
    JAMA Ophthalmol; 2014 Oct; 132(10):1215-20. PubMed ID: 24993872
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. Exome sequencing identifies ZFPM2 as a cause of familial isolated congenital diaphragmatic hernia and possibly cardiovascular malformations.
    Brady PD; Van Houdt J; Callewaert B; Deprest J; Devriendt K; Vermeesch JR
    Eur J Med Genet; 2014; 57(6):247-52. PubMed ID: 24769157
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 6.