BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

154 related articles for article (PubMed ID: 32733070)

  • 1. National external quality assessment for next-generation sequencing-based diagnostics of primary immunodeficiencies.
    Elsink K; Huibers MMH; Hollink IHIM; van der Veken LT; Ernst RF; Simons A; Zonneveld-Huijssoon E; van der Hout AH; Abbott KM; Hoischen A; Pieterse M; Kuijpers TW; van Montfrans JM; van Gijn ME
    Eur J Hum Genet; 2021 Jan; 29(1):20-28. PubMed ID: 32733070
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Primary Immunodeficiencies in India: Molecular Diagnosis and the Role of Next-Generation Sequencing.
    Arunachalam AK; Maddali M; Aboobacker FN; Korula A; George B; Mathews V; Edison ES
    J Clin Immunol; 2021 Feb; 41(2):393-413. PubMed ID: 33225392
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Diagnostic Yield of Next Generation Sequencing in Genetically Undiagnosed Patients with Primary Immunodeficiencies: a Systematic Review.
    Yska HAF; Elsink K; Kuijpers TW; Frederix GWJ; van Gijn ME; van Montfrans JM
    J Clin Immunol; 2019 Aug; 39(6):577-591. PubMed ID: 31250335
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Targeted NGS Platforms for Genetic Screening and Gene Discovery in Primary Immunodeficiencies.
    Cifaldi C; Brigida I; Barzaghi F; Zoccolillo M; Ferradini V; Petricone D; Cicalese MP; Lazarevic D; Cittaro D; Omrani M; Attardi E; Conti F; Scarselli A; Chiriaco M; Di Cesare S; Licciardi F; Davide M; Ferrua F; Canessa C; Pignata C; Giliani S; Ferrari S; Fousteri G; Barera G; Merli P; Palma P; Cesaro S; Gattorno M; Trizzino A; Moschese V; Chini L; Villa A; Azzari C; Finocchi A; Locatelli F; Rossi P; Sangiuolo F; Aiuti A; Cancrini C; Di Matteo G
    Front Immunol; 2019; 10():316. PubMed ID: 31031743
    [No Abstract]   [Full Text] [Related]  

  • 5. Rapid Low-Cost Microarray-Based Genotyping for Genetic Screening in Primary Immunodeficiency.
    Suratannon N; van Wijck RTA; Broer L; Xue L; van Meurs JBJ; Barendregt BH; van der Burg M; Dik WA; Chatchatee P; Langerak AW; Swagemakers SMA; Goos JAC; Mathijssen IMJ; Dalm VASH; Suphapeetiporn K; Heezen KC; Drabwell J; Uitterlinden AG; van der Spek PJ; van Hagen PM;
    Front Immunol; 2020; 11():614. PubMed ID: 32373116
    [No Abstract]   [Full Text] [Related]  

  • 6. Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects.
    Vrijenhoek T; Kraaijeveld K; Elferink M; de Ligt J; Kranendonk E; Santen G; Nijman IJ; Butler D; Claes G; Costessi A; Dorlijn W; van Eyndhoven W; Halley DJ; van den Hout MC; van Hove S; Johansson LF; Jongbloed JD; Kamps R; Kockx CE; de Koning B; Kriek M; Lekanne Dit Deprez R; Lunstroo H; Mannens M; Mook OR; Nelen M; Ploem C; Rijnen M; Saris JJ; Sinke R; Sistermans E; van Slegtenhorst M; Sleutels F; van der Stoep N; van Tienhoven M; Vermaat M; Vogel M; Waisfisz Q; Marjan Weiss J; van den Wijngaard A; van Workum W; Ijntema H; van der Zwaag B; van IJcken WF; den Dunnen J; Veltman JA; Hennekam R; Cuppen E
    Eur J Hum Genet; 2015 Sep; 23(9):1142-50. PubMed ID: 25626705
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. A 2020 update on the use of genetic testing for patients with primary immunodeficiency.
    Chinn IK; Orange JS
    Expert Rev Clin Immunol; 2020 Sep; 16(9):897-909. PubMed ID: 32822560
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Implementation of Early Next-Generation Sequencing for Inborn Errors of Immunity: A Prospective Observational Cohort Study of Diagnostic Yield and Clinical Implications in Dutch Genome Diagnostic Centers.
    Elsink K; Huibers MMH; Hollink IHIM; Simons A; Zonneveld-Huijssoon E; van der Veken LT; Leavis HL; Henriet SSV; van Deuren M; van de Veerdonk FL; Potjewijd J; Berghuis D; Dalm VASH; Vermont CL; van de Ven AAJM; Lambeck AJA; Abbott KM; van Hagen PM; de Bree GJ; Kuijpers TW; Frederix GWJ; van Gijn ME; van Montfrans JM;
    Front Immunol; 2021; 12():780134. PubMed ID: 34992599
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Genetic Screening of the Patients with Primary Immunodeficiency by Whole-Exome Sequencing.
    Erman B; Çipe F
    Pediatr Allergy Immunol Pulmonol; 2020 Mar; 33(1):19-24. PubMed ID: 33406023
    [No Abstract]   [Full Text] [Related]  

  • 11. Expanding the Clinical and Genetic Spectra of Primary Immunodeficiency-Related Disorders With Clinical Exome Sequencing: Expected and Unexpected Findings.
    Rudilla F; Franco-Jarava C; Martínez-Gallo M; Garcia-Prat M; Martín-Nalda A; Rivière J; Aguiló-Cucurull A; Mongay L; Vidal F; Solanich X; Irastorza I; Santos-Pérez JL; Tercedor Sánchez J; Cuscó I; Serra C; Baz-Redón N; Fernández-Cancio M; Carreras C; Vagace JM; Garcia-Patos V; Pujol-Borrell R; Soler-Palacín P; Colobran R
    Front Immunol; 2019; 10():2325. PubMed ID: 31681265
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Results of targeted next-generation sequencing in children with cystic kidney diseases often change the clinical diagnosis.
    Obeidova L; Seeman T; Fencl F; Blahova K; Hojny J; Elisakova V; Reiterova J; Stekrova J
    PLoS One; 2020; 15(6):e0235071. PubMed ID: 32574212
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Diagnostic utility of a targeted next-generation sequencing gene panel in the clinical suspicion of systemic autoinflammatory diseases: a multi-center study.
    Karacan İ; Balamir A; Uğurlu S; Aydın AK; Everest E; Zor S; Önen MÖ; Daşdemir S; Özkaya O; Sözeri B; Tufan A; Yıldırım DG; Yüksel S; Ayaz NA; Ömeroğlu RE; Öztürk K; Çakan M; Söylemezoğlu O; Şahin S; Barut K; Adroviç A; Seyahi E; Özdoğan H; Kasapçopur Ö; Turanlı ET
    Rheumatol Int; 2019 May; 39(5):911-919. PubMed ID: 30783801
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Next-generation sequencing for inborn errors of immunity.
    Lee K; Abraham RS
    Hum Immunol; 2021 Nov; 82(11):871-882. PubMed ID: 33715910
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Diagnostics of Primary Immunodeficiencies through Next-Generation Sequencing.
    Gallo V; Dotta L; Giardino G; Cirillo E; Lougaris V; D'Assante R; Prandini A; Consolini R; Farrow EG; Thiffault I; Saunders CJ; Leonardi A; Plebani A; Badolato R; Pignata C
    Front Immunol; 2016; 7():466. PubMed ID: 27872624
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Establishing the Molecular Diagnoses in a Cohort of 291 Patients With Predominantly Antibody Deficiency by Targeted Next-Generation Sequencing: Experience From a Monocentric Study.
    Rojas-Restrepo J; Caballero-Oteyza A; Huebscher K; Haberstroh H; Fliegauf M; Keller B; Kobbe R; Warnatz K; Ehl S; Proietti M; Grimbacher B
    Front Immunol; 2021; 12():786516. PubMed ID: 34975878
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Novel mutations in hyper-IgM syndrome type 2 and X-linked agammaglobulinemia detected in three patients with primary immunodeficiency disease.
    Chen X; Liu F; Yuan L; Zhang M; Chen K; Wu Y
    Mol Genet Genomic Med; 2021 Jan; 9(1):e1552. PubMed ID: 33377626
    [TBL] [Abstract][Full Text] [Related]  

  • 18. ISSAID/EMQN Best Practice Guidelines for the Genetic Diagnosis of Monogenic Autoinflammatory Diseases in the Next-Generation Sequencing Era.
    Shinar Y; Ceccherini I; Rowczenio D; Aksentijevich I; Arostegui J; Ben-Chétrit E; Boursier G; Gattorno M; Hayrapetyan H; Ida H; Kanazawa N; Lachmann HJ; Mensa-Vilaro A; Nishikomori R; Oberkanins C; Obici L; Ohara O; Ozen S; Sarkisian T; Sheils K; Wolstenholme N; Zonneveld-Huijssoon E; van Gijn ME; Touitou I
    Clin Chem; 2020 Apr; 66(4):525-536. PubMed ID: 32176780
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Next-Generation Sequencing in the Field of Primary Immunodeficiencies: Current Yield, Challenges, and Future Perspectives.
    Vorsteveld EE; Hoischen A; van der Made CI
    Clin Rev Allergy Immunol; 2021 Oct; 61(2):212-225. PubMed ID: 33666867
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Inter-laboratory proficiency testing scheme for tumour next-generation sequencing in Ontario: a pilot study.
    Spence T; Stickle N; Yu C; Chow H; Feilotter H; Lo B; McCready E; Sadikovic B; Siu LL; Bedard PL; Stockley TL
    Curr Oncol; 2019 Dec; 26(6):e717-e732. PubMed ID: 31896942
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.