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 *

198 related articles for article (PubMed ID: 33223419)

  • 1. Translational Diagnostics: An In-House Pipeline to Validate Genetic Variants in Children with Undiagnosed and Rare Diseases.
    Pijuan J; Rodríguez-Sanz M; Natera-de Benito D; Ortez C; Altimir A; Osuna-López M; Roura M; Ugalde M; Van de Vondel L; Reina-Castillón J; Fons C; Benítez R; Nascimento A; Hoenicka J; Palau F
    J Mol Diagn; 2021 Jan; 23(1):71-90. PubMed ID: 33223419
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Re-analysis of whole-exome sequencing data uncovers novel diagnostic variants and improves molecular diagnostic yields for sudden death and idiopathic diseases.
    Salfati EL; Spencer EG; Topol SE; Muse ED; Rueda M; Lucas JR; Wagner GN; Campman S; Topol EJ; Torkamani A
    Genome Med; 2019 Dec; 11(1):83. PubMed ID: 31847883
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 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. Three rare disease diagnoses in one patient through exome sequencing.
    Ferrer A; Schultz-Rogers L; Kaiwar C; Kemppainen JL; Klee EW; Gavrilova RH
    Cold Spring Harb Mol Case Stud; 2019 Dec; 5(6):. PubMed ID: 31427378
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Shortcutting the diagnostic odyssey: the multidisciplinary Program for Undiagnosed Rare Diseases in adults (UD-PrOZA).
    Schuermans N; Hemelsoet D; Terryn W; Steyaert S; Van Coster R; Coucke PJ; Steyaert W; Callewaert B; Bogaert E; Verloo P; Vanlander AV; Debackere E; Ghijsels J; LeBlanc P; Verdin H; Naesens L; Haerynck F; Callens S; Dermaut B; Poppe B;
    Orphanet J Rare Dis; 2022 May; 17(1):210. PubMed ID: 35606766
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Challenges in the diagnosis and discovery of rare genetic disorders using contemporary sequencing technologies.
    Seaby EG; Ennis S
    Brief Funct Genomics; 2020 Jul; 19(4):243-258. PubMed ID: 32393978
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Personalised analytics for rare disease diagnostics.
    Anderson D; Baynam G; Blackwell JM; Lassmann T
    Nat Commun; 2019 Nov; 10(1):5274. PubMed ID: 31754101
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. 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]  

  • 14. Implementation of a genomic medicine multi-disciplinary team approach for rare disease in the clinical setting: a prospective exome sequencing case series.
    Taylor J; Craft J; Blair E; Wordsworth S; Beeson D; Chandratre S; Cossins J; Lester T; Németh AH; Ormondroyd E; Patel SY; Pagnamenta AT; Taylor JC; Thomson KL; Watkins H; Wilkie AOM; Knight JC
    Genome Med; 2019 Jul; 11(1):46. PubMed ID: 31345272
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Exome/Genome Sequencing in Undiagnosed Syndromes.
    Sullivan JA; Schoch K; Spillmann RC; Shashi V
    Annu Rev Med; 2023 Jan; 74():489-502. PubMed ID: 36706750
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Clinical profiles and diagnostic challenges in 1158 children with rare hepatobiliary disorders.
    Dong Y; Wang J; Zhu S; Zheng H; Wang C; Zhao P
    Pediatr Res; 2021 Jan; 89(1):238-245. PubMed ID: 32289814
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. Exome first approach to reduce diagnostic costs and time - retrospective analysis of 111 individuals with rare neurodevelopmental disorders.
    Klau J; Abou Jamra R; Radtke M; Oppermann H; Lemke JR; Beblo S; Popp B
    Eur J Hum Genet; 2022 Jan; 30(1):117-125. PubMed ID: 34690354
    [TBL] [Abstract][Full Text] [Related]  

  • 19. An Improved Phenotype-Driven Tool for Rare Mendelian Variant Prioritization: Benchmarking Exomiser on Real Patient Whole-Exome Data.
    Cipriani V; Pontikos N; Arno G; Sergouniotis PI; Lenassi E; Thawong P; Danis D; Michaelides M; Webster AR; Moore AT; Robinson PN; Jacobsen JOB; Smedley D
    Genes (Basel); 2020 Apr; 11(4):. PubMed ID: 32340307
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 10.