BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

488 related articles for article (PubMed ID: 21920049)

  • 1. 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]  

  • 2. The exome factor.
    Stower H
    Genome Biol; 2011 Sep; 12(9):407. PubMed ID: 21920053
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. Reanalysis of Clinical Exome Sequencing Data.
    Liu P; Meng L; Normand EA; Xia F; Song X; Ghazi A; Rosenfeld J; Magoulas PL; Braxton A; Ward P; Dai H; Yuan B; Bi W; Xiao R; Wang X; Chiang T; Vetrini F; He W; Cheng H; Dong J; Gijavanekar C; Benke PJ; Bernstein JA; Eble T; Eroglu Y; Erwin D; Escobar L; Gibson JB; Gripp K; Kleppe S; Koenig MK; Lewis AM; Natowicz M; Mancias P; Minor L; Scaglia F; Schaaf CP; Streff H; Vernon H; Uhles CL; Zackai EH; Wu N; Sutton VR; Beaudet AL; Muzny D; Gibbs RA; Posey JE; Lalani S; Shaw C; Eng CM; Lupski JR; Yang Y
    N Engl J Med; 2019 Jun; 380(25):2478-2480. PubMed ID: 31216405
    [No Abstract]   [Full Text] [Related]  

  • 5. Clinical whole-exome sequencing for the diagnosis of mendelian disorders.
    Yang Y; Muzny DM; Reid JG; Bainbridge MN; Willis A; Ward PA; Braxton A; Beuten J; Xia F; Niu Z; Hardison M; Person R; Bekheirnia MR; Leduc MS; Kirby A; Pham P; Scull J; Wang M; Ding Y; Plon SE; Lupski JR; Beaudet AL; Gibbs RA; Eng CM
    N Engl J Med; 2013 Oct; 369(16):1502-11. PubMed ID: 24088041
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Diagnostic clinical genome and exome sequencing.
    Biesecker LG; Green RC
    N Engl J Med; 2014 Jun; 370(25):2418-25. PubMed ID: 24941179
    [No Abstract]   [Full Text] [Related]  

  • 7. Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test.
    Lionel AC; Costain G; Monfared N; Walker S; Reuter MS; Hosseini SM; Thiruvahindrapuram B; Merico D; Jobling R; Nalpathamkalam T; Pellecchia G; Sung WWL; Wang Z; Bikangaga P; Boelman C; Carter MT; Cordeiro D; Cytrynbaum C; Dell SD; Dhir P; Dowling JJ; Heon E; Hewson S; Hiraki L; Inbar-Feigenberg M; Klatt R; Kronick J; Laxer RM; Licht C; MacDonald H; Mercimek-Andrews S; Mendoza-Londono R; Piscione T; Schneider R; Schulze A; Silverman E; Siriwardena K; Snead OC; Sondheimer N; Sutherland J; Vincent A; Wasserman JD; Weksberg R; Shuman C; Carew C; Szego MJ; Hayeems RZ; Basran R; Stavropoulos DJ; Ray PN; Bowdin S; Meyn MS; Cohn RD; Scherer SW; Marshall CR
    Genet Med; 2018 Apr; 20(4):435-443. PubMed ID: 28771251
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. Next-generation human genetics.
    Shendure J
    Genome Biol; 2011 Sep; 12(9):408. PubMed ID: 21920048
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Massively Parallel Sequencing for Rare Genetic Disorders: Potential and Pitfalls.
    McInerney-Leo AM; Duncan EL
    Front Endocrinol (Lausanne); 2020; 11():628946. PubMed ID: 33679611
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Genetic diagnosis through whole-exome sequencing.
    Jacob HJ
    N Engl J Med; 2014 Mar; 370(11):1069. PubMed ID: 24627900
    [No Abstract]   [Full Text] [Related]  

  • 12. Genetic diagnosis through whole-exome sequencing.
    Rosen JM
    N Engl J Med; 2014 Mar; 370(11):1068. PubMed ID: 24620875
    [No Abstract]   [Full Text] [Related]  

  • 13. Genetic diagnosis through whole-exome sequencing.
    Friedman JM; Adam S
    N Engl J Med; 2014 Mar; 370(11):1067-8. PubMed ID: 24620874
    [No Abstract]   [Full Text] [Related]  

  • 14. Genetic diagnosis through whole-exome sequencing.
    van der Zwaag PA; Jongbloed JD; van Tintelen JP
    N Engl J Med; 2014 Mar; 370(11):1067. PubMed ID: 24620873
    [No Abstract]   [Full Text] [Related]  

  • 15. Genetic diagnosis through whole-exome sequencing.
    Eng CM; Yang Y; Plon SE
    N Engl J Med; 2014 Mar; 370(11):1068. PubMed ID: 24620872
    [No Abstract]   [Full Text] [Related]  

  • 16. Use of medical exome sequencing for identification of underlying genetic defects in NICU: Experience in a cohort of 2303 neonates in China.
    Yang L; Wei Z; Chen X; Hu L; Peng X; Wang J; Lu C; Kong Y; Dong X; Ni Q; Lu Y; Wu B; Wang H; Meirelles K; Tian X; Zhang J; Chang F; Liu L; Li C; You W; Cheng G; Wang L; Cao Y; Chen C; Fang P; Tang S; Zhou W
    Clin Genet; 2022 Jan; 101(1):101-109. PubMed ID: 34671977
    [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. Exome sequencing a review of new strategies for rare genomic disease research.
    Brown TL; Meloche TM
    Genomics; 2016 Oct; 108(3-4):109-114. PubMed ID: 27387609
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Pitfalls of trio-based exome sequencing: imprinted genes and parental mosaicism-MAGEL2 as an example.
    Palomares-Bralo M; Vallespín E; Del Pozo Á; Ibañez K; Silla JC; Galán E; Gordo G; Martínez-Glez V; Alba-Valdivia LI; Heath KE; García-Miñaúr S; Lapunzina P; Santos-Simarro F
    Genet Med; 2017 Nov; 19(11):1285-1286. PubMed ID: 28640240
    [No Abstract]   [Full Text] [Related]  

  • 20. Phenotype-driven variant filtration strategy in exome sequencing toward a high diagnostic yield and identification of 85 novel variants in 400 patients with rare Mendelian disorders.
    Marinakis NM; Svingou M; Veltra D; Kekou K; Sofocleous C; Tilemis FN; Kosma K; Tsoutsou E; Fryssira H; Traeger-Synodinos J
    Am J Med Genet A; 2021 Aug; 185(8):2561-2571. PubMed ID: 34008892
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 25.