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 *

185 related articles for article (PubMed ID: 31872981)

  • 1. When moments matter: Finding answers with rapid exome sequencing.
    Powis Z; Farwell Hagman KD; Blanco K; Au M; Graham JM; Singh K; Gallant N; Randolph LM; Towne M; Hunter J; Shinde DN; Palmaer E; Schoenfeld B; Tang S
    Mol Genet Genomic Med; 2020 Feb; 8(2):e1027. PubMed ID: 31872981
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies.
    Arts P; Simons A; AlZahrani MS; Yilmaz E; AlIdrissi E; van Aerde KJ; Alenezi N; AlGhamdi HA; AlJubab HA; Al-Hussaini AA; AlManjomi F; Alsaad AB; Alsaleem B; Andijani AA; Asery A; Ballourah W; Bleeker-Rovers CP; van Deuren M; van der Flier M; Gerkes EH; Gilissen C; Habazi MK; Hehir-Kwa JY; Henriet SS; Hoppenreijs EP; Hortillosa S; Kerkhofs CH; Keski-Filppula R; Lelieveld SH; Lone K; MacKenzie MA; Mensenkamp AR; Moilanen J; Nelen M; Ten Oever J; Potjewijd J; van Paassen P; Schuurs-Hoeijmakers JHM; Simon A; Stokowy T; van de Vorst M; Vreeburg M; Wagner A; van Well GTJ; Zafeiropoulou D; Zonneveld-Huijssoon E; Veltman JA; van Zelst-Stams WAG; Faqeih EA; van de Veerdonk FL; Netea MG; Hoischen A
    Genome Med; 2019 Jun; 11(1):38. PubMed ID: 31203817
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System.
    ; Lunke S; Eggers S; Wilson M; Patel C; Barnett CP; Pinner J; Sandaradura SA; Buckley MF; Krzesinski EI; de Silva MG; Brett GR; Boggs K; Mowat D; Kirk EP; Adès LC; Akesson LS; Amor DJ; Ayres S; Baxendale A; Borrie S; Bray A; Brown NJ; Chan CY; Chong B; Cliffe C; Delatycki MB; Edwards M; Elakis G; Fahey MC; Fennell A; Fowles L; Gallacher L; Higgins M; Howell KB; Hunt L; Hunter MF; Jones KJ; King S; Kumble S; Lang S; Le Moing M; Ma A; Phelan D; Quinn MCJ; Richards A; Richmond CM; Riseley J; Rodgers J; Sachdev R; Sadedin S; Schlapbach LJ; Smith J; Springer A; Tan NB; Tan TY; Temple SL; Theda C; Vasudevan A; White SM; Yeung A; Zhu Y; Martyn M; Best S; Roscioli T; Christodoulou J; Stark Z
    JAMA; 2020 Jun; 323(24):2503-2511. PubMed ID: 32573669
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Diagnostic value of whole-exome sequencing in Chinese pediatric-onset neuromuscular patients.
    Tsang MHY; Chiu ATG; Kwong BMH; Liang R; Yu MHC; Yeung KS; Ho WHL; Mak CCY; Leung GKC; Pei SLC; Fung JLF; Wong VCN; Muntoni F; Chung BHY; Chan SHS
    Mol Genet Genomic Med; 2020 May; 8(5):e1205. PubMed ID: 32154989
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Community-based recruitment and exome sequencing indicates high diagnostic yield in adults with intellectual disability.
    Sabo A; Murdock D; Dugan S; Meng Q; Gingras MC; Hu J; Muzny D; Gibbs R
    Mol Genet Genomic Med; 2020 Oct; 8(10):e1439. PubMed ID: 32767738
    [TBL] [Abstract][Full Text] [Related]  

  • 6. The importance of dynamic re-analysis in diagnostic whole exome sequencing.
    Need AC; Shashi V; Schoch K; Petrovski S; Goldstein DB
    J Med Genet; 2017 Mar; 54(3):155-156. PubMed ID: 27899421
    [No Abstract]   [Full Text] [Related]  

  • 7. Exome sequencing in neonates: diagnostic rates, characteristics, and time to diagnosis.
    Powis Z; Farwell Hagman KD; Speare V; Cain T; Blanco K; Mowlavi LS; Mayerhofer EM; Tilstra D; Vedder T; Hunter JM; Tsang M; Gonzalez L; Vockley G; Tang S
    Genet Med; 2018 Nov; 20(11):1468-1471. PubMed ID: 29565416
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Reducing diagnostic turnaround times of exome sequencing for families requiring timely diagnoses.
    Bourchany A; Thauvin-Robinet C; Lehalle D; Bruel AL; Masurel-Paulet A; Jean N; Nambot S; Willems M; Lambert L; El Chehadeh-Djebbar S; Schaefer E; Jaquette A; St-Onge J; Poe C; Jouan T; Chevarin M; Callier P; Mosca-Boidron AL; Laurent N; Lefebvre M; Huet F; Houcinat N; Moutton S; Philippe C; Tran-Mau-Them F; Vitobello A; Kuentz P; Duffourd Y; Rivière JB; Thevenon J; Faivre L
    Eur J Med Genet; 2017 Nov; 60(11):595-604. PubMed ID: 28807864
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. Role of next generation sequencing in diagnosis and management of critically ill children with suspected monogenic disorder.
    Bhatia S; Pal S; Kulshrestha S; Gupta D; Soni A; Saxena R; Bijarnia-Mahay S; Verma IC; Puri RD
    Eur J Hum Genet; 2024 Sep; 32(9):1106-1115. PubMed ID: 38605122
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Diagnostic yield of exome sequencing in myopathies: Experience of a Slovenian tertiary centre.
    Babić Božović I; Maver A; Leonardis L; Meznaric M; Osredkar D; Peterlin B
    PLoS One; 2021; 16(6):e0252953. PubMed ID: 34106991
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Rapid clinical exome sequencing in a pediatric ICU: Genetic counselor impacts and challenges.
    Clowes Candadai SV; Sikes MC; Thies JM; Freed AS; Bennett JT
    J Genet Couns; 2019 Apr; 28(2):283-291. PubMed ID: 30964580
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A comparison of genomic diagnostics in adults and children with epilepsy and comorbid intellectual disability.
    Benson KA; White M; Allen NM; Byrne S; Carton R; Comerford E; Costello D; Doherty C; Dunleavey B; El-Naggar H; Gangadharan N; Heavin S; Kearney H; Lench NJ; Lynch J; McCormack M; Regan MO; Podesta K; Power K; Rogers AS; Steward CA; Sweeney B; Webb D; Fitzsimons M; Greally M; Delanty N; Cavalleri GL
    Eur J Hum Genet; 2020 Aug; 28(8):1066-1077. PubMed ID: 32238909
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Advances in the Genetic Testing of Neuromuscular Diseases.
    Shieh PB
    Neurol Clin; 2020 Aug; 38(3):519-528. PubMed ID: 32703465
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Underdiagnoses resulting from variant misinterpretation: Time for systematic reanalysis of whole exome data?
    Al-Murshedi F; Meftah D; Scott P
    Eur J Med Genet; 2019 Jan; 62(1):39-43. PubMed ID: 29709712
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Next-generation sequencing and the impact on prenatal diagnosis.
    Mellis R; Chandler N; Chitty LS
    Expert Rev Mol Diagn; 2018 Aug; 18(8):689-699. PubMed ID: 29962246
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. Early diagnosis of Pearson syndrome in neonatal intensive care following rapid mitochondrial genome sequencing in tandem with exome sequencing.
    Akesson LS; Eggers S; Love CJ; Chong B; Krzesinski EI; Brown NJ; Tan TY; Richmond CM; Thorburn DR; Christodoulou J; Hunter MF; Lunke S; Stark Z
    Eur J Hum Genet; 2019 Dec; 27(12):1821-1826. PubMed ID: 31358953
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Before progressing from "exomes" to "genomes"… don't forget splicing variants.
    Shaikh SS; Nahorski MS; Rai H; Woods CG
    Eur J Hum Genet; 2018 Nov; 26(11):1559-1562. PubMed ID: 30002500
    [No Abstract]   [Full Text] [Related]  

  • 20. Diagnostic clarity of exome sequencing following negative comprehensive panel testing in the neonatal intensive care unit.
    Kernohan KD; Hartley T; Naumenko S; Armour CM; Graham GE; Nikkel SM; Lines M; Geraghty MT; Richer J; Mears W; Boycott KM; Dyment DA
    Am J Med Genet A; 2018 Jul; 176(7):1688-1691. PubMed ID: 30160830
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 10.