BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

619 related articles for article (PubMed ID: 30559314)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 5. 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]  

  • 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. The long tail and rare disease research: the impact of next-generation sequencing for rare Mendelian disorders.
    Shen T; Lee A; Shen C; Lin CJ
    Genet Res (Camb); 2015 Sep; 97():e15. PubMed ID: 26365496
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. Genome Sequencing for Diagnosing Rare Diseases.
    Wojcik MH; Lemire G; Berger E; Zaki MS; Wissmann M; Win W; White SM; Weisburd B; Wieczorek D; Waddell LB; Verboon JM; VanNoy GE; Töpf A; Tan TY; Syrbe S; Strehlow V; Straub V; Stenton SL; Snow H; Singer-Berk M; Silver J; Shril S; Seaby EG; Schneider R; Sankaran VG; Sanchis-Juan A; Russell KA; Reinson K; Ravenscroft G; Radtke M; Popp D; Polster T; Platzer K; Pierce EA; Place EM; Pajusalu S; Pais L; Õunap K; Osei-Owusu I; Opperman H; Okur V; Oja KT; O'Leary M; O'Heir E; Morel CF; Merkenschlager A; Marchant RG; Mangilog BE; Madden JA; MacArthur D; Lovgren A; Lerner-Ellis JP; Lin J; Laing N; Hildebrandt F; Hentschel J; Groopman E; Goodrich J; Gleeson JG; Ghaoui R; Genetti CA; Gburek-Augustat J; Gazda HT; Ganesh VS; Ganapathi M; Gallacher L; Fu JM; Evangelista E; England E; Donkervoort S; DiTroia S; Cooper ST; Chung WK; Christodoulou J; Chao KR; Cato LD; Bujakowska KM; Bryen SJ; Brand H; Bönnemann CG; Beggs AH; Baxter SM; Bartolomaeus T; Agrawal PB; Talkowski M; Austin-Tse C; Abou Jamra R; Rehm HL; O'Donnell-Luria A
    N Engl J Med; 2024 Jun; 390(21):1985-1997. PubMed ID: 38838312
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Diagnostic Considerations in the Epilepsies-Testing Strategies, Test Type Advantages, and Limitations.
    Chen WL; Mefford HC
    Neurotherapeutics; 2021 Jul; 18(3):1468-1477. PubMed ID: 34532824
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. Uncovering Missing Heritability in Rare Diseases.
    Maroilley T; Tarailo-Graovac M
    Genes (Basel); 2019 Apr; 10(4):. PubMed ID: 30987386
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Pitfalls of clinical exome and gene panel testing: alternative transcripts.
    Bodian DL; Kothiyal P; Hauser NS
    Genet Med; 2019 May; 21(5):1240-1245. PubMed ID: 30293991
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. Population-based identity-by-descent mapping combined with exome sequencing to detect rare risk variants for schizophrenia.
    Harold D; Connolly S; Riley BP; Kendler KS; McCarthy SE; McCombie WR; Richards A; Owen MJ; O'Donovan MC; Walters J; ; ; Donohoe G; Gill M; Corvin A; Morris DW
    Am J Med Genet B Neuropsychiatr Genet; 2019 Apr; 180(3):223-231. PubMed ID: 30801977
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Exome sequencing-based molecular autopsy of formalin-fixed paraffin-embedded tissue after sudden death.
    Bagnall RD; Ingles J; Yeates L; Berkovic SF; Semsarian C
    Genet Med; 2017 Oct; 19(10):1127-1133. PubMed ID: 28333919
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Detection of mobile elements insertions for routine clinical diagnostics in targeted sequencing data.
    Demidov G; Park J; Armeanu-Ebinger S; Roggia C; Faust U; Cordts I; Blandfort M; Haack TB; Schroeder C; Ossowski S
    Mol Genet Genomic Med; 2021 Dec; 9(12):e1807. PubMed ID: 34491624
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. 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]  

  • 20. 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]  

    [Next]    [New Search]
    of 31.