BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

154 related articles for article (PubMed ID: 27629930)

  • 1. 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]  

  • 2. Diagnosing rare diseases after the exome.
    Frésard L; Montgomery SB
    Cold Spring Harb Mol Case Stud; 2018 Dec; 4(6):. PubMed ID: 30559314
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Rare germline copy number variants in colorectal cancer predisposition characterized by exome sequencing analysis.
    Franch-Expósito S; Esteban-Jurado C; Garre P; Quintanilla I; Duran-Sanchon S; Díaz-Gay M; Bonjoch L; Cuatrecasas M; Samper E; Muñoz J; Ocaña T; Carballal S; López-Cerón M; Castells A; ; Vila-Casadesús M; Derdak S; Laurie S; Beltran S; Carvajal J; Bujanda L; Ruiz-Ponte C; Camps J; Gironella M; Lozano JJ; Balaguer F; Cubiella J; Caldés T; Castellví-Bel S
    J Genet Genomics; 2018 Jan; 45(1):41-45. PubMed ID: 29396139
    [No Abstract]   [Full Text] [Related]  

  • 4. Comprehensive use of extended exome analysis improves diagnostic yield in rare disease: a retrospective survey in 1,059 cases.
    Bergant G; Maver A; Lovrecic L; Čuturilo G; Hodzic A; Peterlin B
    Genet Med; 2018 Mar; 20(3):303-312. PubMed ID: 28914264
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Limitations of exome sequencing in detecting rare and undiagnosed diseases.
    Burdick KJ; Cogan JD; Rives LC; Robertson AK; Koziura ME; Brokamp E; Duncan L; Hannig V; Pfotenhauer J; Vanzo R; Paul MS; Bican A; Morgan T; Duis J; Newman JH; Hamid R; Phillips JA;
    Am J Med Genet A; 2020 Jun; 182(6):1400-1406. PubMed ID: 32190976
    [TBL] [Abstract][Full Text] [Related]  

  • 6. CNV Detection from Exome Sequencing Data in Routine Diagnostics of Rare Genetic Disorders: Opportunities and Limitations.
    Royer-Bertrand B; Cisarova K; Niel-Butschi F; Mittaz-Crettol L; Fodstad H; Superti-Furga A
    Genes (Basel); 2021 Sep; 12(9):. PubMed ID: 34573409
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency.
    Bone WP; Washington NL; Buske OJ; Adams DR; Davis J; Draper D; Flynn ED; Girdea M; Godfrey R; Golas G; Groden C; Jacobsen J; Köhler S; Lee EM; Links AE; Markello TC; Mungall CJ; Nehrebecky M; Robinson PN; Sincan M; Soldatos AG; Tifft CJ; Toro C; Trang H; Valkanas E; Vasilevsky N; Wahl C; Wolfe LA; Boerkoel CF; Brudno M; Haendel MA; Gahl WA; Smedley D
    Genet Med; 2016 Jun; 18(6):608-17. PubMed ID: 26562225
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Identification of putative second genetic hits in schizophrenia carriers of high-risk copy number variants and resequencing in additional samples.
    Rodríguez-López J; Sobrino B; Amigo J; Carrera N; Brenlla J; Agra S; Paz E; Carracedo Á; Páramo M; Arrojo M; Costas J
    Eur Arch Psychiatry Clin Neurosci; 2018 Sep; 268(6):585-592. PubMed ID: 28421333
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Genetic testing including targeted gene panel in a diverse clinical population of children with autism spectrum disorder: Findings and implications.
    Kalsner L; Twachtman-Bassett J; Tokarski K; Stanley C; Dumont-Mathieu T; Cotney J; Chamberlain S
    Mol Genet Genomic Med; 2018 Mar; 6(2):171-185. PubMed ID: 29271092
    [TBL] [Abstract][Full Text] [Related]  

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

  • 11. Whole exome sequencing reveals copy number variants in individuals with disorders of sex development.
    Sreenivasan R; Bell K; van den Bergen J; Robevska G; Belluoccio D; Dahiya R; Leong GM; Dulon J; Touraine P; Tucker EJ; Ayers K; Sinclair A
    Mol Cell Endocrinol; 2022 Apr; 546():111570. PubMed ID: 35051551
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. The Genetic Control of Stoichiometry Underlying Autism.
    Darnell RB
    Annu Rev Neurosci; 2020 Jul; 43():509-533. PubMed ID: 32640929
    [TBL] [Abstract][Full Text] [Related]  

  • 14. CNV analysis using whole exome sequencing identified biallelic CNVs of VPS13B in siblings with intellectual disability.
    Enomoto Y; Tsurusaki Y; Yokoi T; Abe-Hatano C; Ida K; Naruto T; Mitsui J; Tsuji S; Morishita S; Kurosawa K
    Eur J Med Genet; 2020 Jan; 63(1):103610. PubMed ID: 30602132
    [TBL] [Abstract][Full Text] [Related]  

  • 15. New Developments and Possibilities in Reanalysis and Reinterpretation of Whole Exome Sequencing Datasets for Unsolved Rare Diseases Using Machine Learning Approaches.
    Setty ST; Scott-Boyer MP; Cuppens T; Droit A
    Int J Mol Sci; 2022 Jun; 23(12):. PubMed ID: 35743235
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A Diagnosis for All Rare Genetic Diseases: The Horizon and the Next Frontiers.
    Boycott KM; Hartley T; Biesecker LG; Gibbs RA; Innes AM; Riess O; Belmont J; Dunwoodie SL; Jojic N; Lassmann T; Mackay D; Temple IK; Visel A; Baynam G
    Cell; 2019 Mar; 177(1):32-37. PubMed ID: 30901545
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Association of rare variants in neurodegenerative genes with familial Alzheimer's disease.
    Zhang W; Jiao B; Xiao T; Liu X; Liao X; Xiao X; Guo L; Yuan Z; Yan X; Tang B; Shen L
    Ann Clin Transl Neurol; 2020 Oct; 7(10):1985-1995. PubMed ID: 32941707
    [TBL] [Abstract][Full Text] [Related]  

  • 18. eDiVA-Classification and prioritization of pathogenic variants for clinical diagnostics.
    Bosio M; Drechsel O; Rahman R; Muyas F; Rabionet R; Bezdan D; Domenech Salgado L; Hor H; Schott JJ; Munell F; Colobran R; Macaya A; Estivill X; Ossowski S
    Hum Mutat; 2019 Jul; 40(7):865-878. PubMed ID: 31026367
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Whole exome sequencing reveals intertumor heterogeneity and distinct genetic origins of sporadic synchronous colorectal cancer.
    Di J; Yang H; Jiang B; Wang Z; Ji J; Su X
    Int J Cancer; 2018 Mar; 142(5):927-939. PubMed ID: 29105743
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Exome Sequencing of Two Siblings with Sporadic Autism Spectrum Disorder and Severe Speech Sound Disorder Suggests Pleiotropic and Complex Effects.
    Peter B; Dinu V; Liu L; Huentelman M; Naymik M; Lancaster H; Vose C; Schrauwen I
    Behav Genet; 2019 Jul; 49(4):399-414. PubMed ID: 30949922
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.