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 *

257 related articles for article (PubMed ID: 34716697)

  • 1. Interest of exome sequencing trio-like strategy based on pooled parental DNA for diagnosis and translational research in rare diseases.
    Tran Mau-Them F; Duffourd Y; Vitobello A; Bruel AL; Denommé-Pichon AS; Nambot S; Delanne J; Moutton S; Sorlin A; ; Couturier V; Bourgeois V; Chevarin M; Poe C; Mosca-Boidron AL; Callier P; Safraou H; Faivre L; Philippe C; Thauvin-Robinet C
    Mol Genet Genomic Med; 2021 Dec; 9(12):e1836. PubMed ID: 34716697
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Second-tier trio exome sequencing after negative solo clinical exome sequencing: an efficient strategy to increase diagnostic yield and decipher molecular bases in undiagnosed developmental disorders.
    Tran Mau-Them F; Moutton S; Racine C; Vitobello A; Bruel AL; Nambot S; Kushner SA; de Vrij FMS; Lehalle D; Jean-Marçais N; Lecoquierre F; Delanne J; Thevenon J; Poe C; Jouan T; Chevarin M; Geneviève D; Willems M; Coubes C; Houcinat N; Masurel-Paulet A; Mosca-Boidron AL; Tisserant E; Callier P; Sorlin A; Duffourd Y; Faivre L; Philippe C; Thauvin-Robinet C
    Hum Genet; 2020 Nov; 139(11):1381-1390. PubMed ID: 32399599
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. Evaluating systematic reanalysis of clinical genomic data in rare disease from single center experience and literature review.
    Tan NB; Stapleton R; Stark Z; Delatycki MB; Yeung A; Hunter MF; Amor DJ; Brown NJ; Stutterd CA; McGillivray G; Yap P; Regan M; Chong B; Fanjul Fernandez M; Marum J; Phelan D; Pais LS; White SM; Lunke S; Tan TY
    Mol Genet Genomic Med; 2020 Nov; 8(11):e1508. PubMed ID: 32969205
    [TBL] [Abstract][Full Text] [Related]  

  • 7. A highly sensitive and specific workflow for detecting rare copy-number variants from exome sequencing data.
    Rajagopalan R; Murrell JR; Luo M; Conlin LK
    Genome Med; 2020 Jan; 12(1):14. PubMed ID: 32000839
    [TBL] [Abstract][Full Text] [Related]  

  • 8. What is the right sequencing approach? Solo VS extended family analysis in consanguineous populations.
    Alfares A; Alsubaie L; Aloraini T; Alaskar A; Althagafi A; Alahmad A; Rashid M; Alswaid A; Alothaim A; Eyaid W; Ababneh F; Albalwi M; Alotaibi R; Almutairi M; Altharawi N; Alsamer A; Abdelhakim M; Kafkas S; Mineta K; Cheung N; Abdallah AM; Büchmann-Møller S; Fukasawa Y; Zhao X; Rajan I; Hoehndorf R; Al Mutairi F; Gojobori T; Alfadhel M
    BMC Med Genomics; 2020 Jul; 13(1):103. PubMed ID: 32680510
    [TBL] [Abstract][Full Text] [Related]  

  • 9. The implementation of an enhanced clinical model to improve the diagnostic yield of exome sequencing for patients with a rare genetic disease: A Canadian experience.
    Ediae GU; Lemire G; Chisholm C; Hartley T; Eaton A; Osmond M; Rojas SK; Huang L; Gillespie M; ; Sawyer SL; Boycott KM
    Am J Med Genet A; 2023 Feb; 191(2):338-347. PubMed ID: 36331261
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Implementation of Exome Sequencing to Identify Rare Genetic Diseases.
    Udupa P; Ghosh DK
    Methods Mol Biol; 2024; 2719():79-98. PubMed ID: 37803113
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Clinical exome sequencing for genetic identification of rare Mendelian disorders.
    Lee H; Deignan JL; Dorrani N; Strom SP; Kantarci S; Quintero-Rivera F; Das K; Toy T; Harry B; Yourshaw M; Fox M; Fogel BL; Martinez-Agosto JA; Wong DA; Chang VY; Shieh PB; Palmer CG; Dipple KM; Grody WW; Vilain E; Nelson SF
    JAMA; 2014 Nov; 312(18):1880-7. PubMed ID: 25326637
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A head-to-head evaluation of the diagnostic efficacy and costs of trio versus singleton exome sequencing analysis.
    Tan TY; Lunke S; Chong B; Phelan D; Fanjul-Fernandez M; Marum JE; Kumar VS; Stark Z; Yeung A; Brown NJ; Stutterd C; Delatycki MB; Sadedin S; Martyn M; Goranitis I; Thorne N; Gaff CL; White SM
    Eur J Hum Genet; 2019 Dec; 27(12):1791-1799. PubMed ID: 31320747
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. Case for genome sequencing in infants and children with rare, undiagnosed or genetic diseases.
    Bick D; Jones M; Taylor SL; Taft RJ; Belmont J
    J Med Genet; 2019 Dec; 56(12):783-791. PubMed ID: 31023718
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Diagnostic yield of exome and genome sequencing after non-diagnostic multi-gene panels in patients with single-system diseases.
    Wilke MVMB; Klee EW; Dhamija R; Fervenza FC; Thomas B; Leung N; Hogan MC; Hager MM; Kolbert KJ; Kemppainen JL; Loftus EC; Leitzen KM; Vitek CR; McAllister T; Lazaridis KN; Pinto E Vairo F
    Orphanet J Rare Dis; 2024 May; 19(1):216. PubMed ID: 38790019
    [TBL] [Abstract][Full Text] [Related]  

  • 16. RAPIDOMICS: rapid genome-wide sequencing in a neonatal intensive care unit-successes and challenges.
    Elliott AM; du Souich C; Lehman A; Guella I; Evans DM; Candido T; Tooman L; Armstrong L; Clarke L; Gibson W; Gill H; Lavoie PM; Lewis S; McKinnon ML; Nikkel SM; Patel M; Solimano A; Synnes A; Ting J; van Allen M; Christilaw J; Farrer MJ; Friedman JM; Osiovich H
    Eur J Pediatr; 2019 Aug; 178(8):1207-1218. PubMed ID: 31172278
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Diagnostic yield of exome sequencing in fetuses with multisystem malformations: systematic review and meta-analysis.
    Pauta M; Martinez-Portilla RJ; Borrell A
    Ultrasound Obstet Gynecol; 2022 Jun; 59(6):715-722. PubMed ID: 35041238
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. Parental motivations for and adaptation to trio-exome sequencing in a prospective prenatal testing cohort: Beyond the diagnosis.
    Talati AN; Gilmore KL; Hardisty EE; Lyerly AD; Rini C; Vora NL
    Prenat Diagn; 2022 May; 42(6):775-782. PubMed ID: 35132674
    [TBL] [Abstract][Full Text] [Related]  

  • 20. The cost and diagnostic yield of exome sequencing for children with suspected genetic disorders: a benchmarking study.
    Dragojlovic N; Elliott AM; Adam S; van Karnebeek C; Lehman A; Mwenifumbo JC; Nelson TN; du Souich C; Friedman JM; Lynd LD
    Genet Med; 2018 Sep; 20(9):1013-1021. PubMed ID: 29300375
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 13.