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 *

227 related articles for article (PubMed ID: 29247206)

  • 1. A next-generation newborn screening pilot study: NGS on dried blood spots detects causal mutations in patients with inherited metabolic diseases.
    Boemer F; Fasquelle C; d'Otreppe S; Josse C; Dideberg V; Segers K; Guissard V; Capraro V; Debray FG; Bours V
    Sci Rep; 2017 Dec; 7(1):17641. PubMed ID: 29247206
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Archived neonatal dried blood spot samples can be used for accurate whole genome and exome-targeted next-generation sequencing.
    Hollegaard MV; Grauholm J; Nielsen R; Grove J; Mandrup S; Hougaard DM
    Mol Genet Metab; 2013; 110(1-2):65-72. PubMed ID: 23830478
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Next-generation sequencing as a second-tier diagnostic test for newborn screening.
    Luo X; Wang R; Fan Y; Gu X; Yu Y
    J Pediatr Endocrinol Metab; 2018 Aug; 31(8):927-931. PubMed ID: 30030962
    [TBL] [Abstract][Full Text] [Related]  

  • 4. A Population-Based Genomic Study of Inherited Metabolic Diseases Detected Through Newborn Screening.
    Park KJ; Park S; Lee E; Park JH; Park JH; Park HD; Lee SY; Kim JW
    Ann Lab Med; 2016 Nov; 36(6):561-72. PubMed ID: 27578510
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Next-generation sequencing based newborn screening and comparative analysis with MS/MS.
    Shen G; Li W; Zhang Y; Chen L
    BMC Pediatr; 2024 Apr; 24(1):230. PubMed ID: 38561707
    [TBL] [Abstract][Full Text] [Related]  

  • 6. High Incidence of Severe Combined Immunodeficiency Disease in Saudi Arabia Detected Through Combined T Cell Receptor Excision Circle and Next Generation Sequencing of Newborn Dried Blood Spots.
    Al-Mousa H; Al-Dakheel G; Jabr A; Elbadaoui F; Abouelhoda M; Baig M; Monies D; Meyer B; Hawwari A; Dasouki M
    Front Immunol; 2018; 9():782. PubMed ID: 29713328
    [TBL] [Abstract][Full Text] [Related]  

  • 7. A New Integrated Newborn Screening Workflow Can Provide a Shortcut to Differential Diagnosis and Confirmation of Inherited Metabolic Diseases.
    Ko JM; Park KS; Kang Y; Nam SH; Kim Y; Park I; Chae HW; Lee SM; Lee KA; Kim JW
    Yonsei Med J; 2018 Jul; 59(5):652-661. PubMed ID: 29869463
    [TBL] [Abstract][Full Text] [Related]  

  • 8. High-Quality Exome Sequencing of Whole-Genome Amplified Neonatal Dried Blood Spot DNA.
    Poulsen JB; Lescai F; Grove J; Bækvad-Hansen M; Christiansen M; Hagen CM; Maller J; Stevens C; Li S; Li Q; Sun J; Wang J; Nordentoft M; Werge TM; Mortensen PB; Børglum AD; Daly M; Hougaard DM; Bybjerg-Grauholm J; Hollegaard MV
    PLoS One; 2016; 11(4):e0153253. PubMed ID: 27089011
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Improving newborn screening for cystic fibrosis using next-generation sequencing technology: a technical feasibility study.
    Baker MW; Atkins AE; Cordovado SK; Hendrix M; Earley MC; Farrell PM
    Genet Med; 2016 Mar; 18(3):231-8. PubMed ID: 25674778
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Evaluating parents' decisions about next-generation sequencing for their child in the NC NEXUS (North Carolina Newborn Exome Sequencing for Universal Screening) study: a randomized controlled trial protocol.
    Milko LV; Rini C; Lewis MA; Butterfield RM; Lin FC; Paquin RS; Powell BC; Roche MI; Souris KJ; Bailey DB; Berg JS; Powell CM
    Trials; 2018 Jun; 19(1):344. PubMed ID: 29950170
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Towards genomic-Newborn Screening: Technical feasibility of Exome Sequencing starting from dried blood spots.
    Mauri A; Berardo C; Biganzoli D; Meta A; Benedetti S; Rey F; Messa L; Zuccotti GV; Carelli S; Alberti L; Cereda C
    Mol Genet Metab Rep; 2024 Jun; 39():101074. PubMed ID: 38544910
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Next-Generation Molecular Testing of Newborn Dried Blood Spots for Cystic Fibrosis.
    Lefterova MI; Shen P; Odegaard JI; Fung E; Chiang T; Peng G; Davis RW; Wang W; Kharrazi M; Schrijver I; Scharfe C
    J Mol Diagn; 2016 Mar; 18(2):267-82. PubMed ID: 26847993
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Analysis of archived residual newborn screening blood spots after whole genome amplification.
    Cantarel BL; Lei Y; Weaver D; Zhu H; Farrell A; Benstead-Hume G; Reese J; Finnell RH
    BMC Genomics; 2015 Aug; 16(1):602. PubMed ID: 26268606
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Insights into National Laboratory Newborn Screening and Future Prospects.
    Mujamammi AH
    Medicina (Kaunas); 2022 Feb; 58(2):. PubMed ID: 35208595
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Whole exome and whole genome sequencing with dried blood spot DNA without whole genome amplification.
    Bassaganyas L; Freedman G; Vaka D; Wan E; Lao R; Chen F; Kvale M; Currier RJ; Puck JM; Kwok PY
    Hum Mutat; 2018 Jan; 39(1):167-171. PubMed ID: 29067733
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Sequencing from dried blood spots in infants with "false positive" newborn screen for MCAD deficiency.
    McCandless SE; Chandrasekar R; Linard S; Kikano S; Rice L
    Mol Genet Metab; 2013 Jan; 108(1):51-5. PubMed ID: 23151387
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Technical Advances for the Clinical Genomic Evaluation of Sudden Cardiac Death: Verification of Next-Generation Sequencing Panels for Hereditary Cardiovascular Conditions Using Formalin-Fixed Paraffin-Embedded Tissues and Dried Blood Spots.
    Baudhuin LM; Leduc C; Train LJ; Avula R; Kluge ML; Kotzer KE; Lin PT; Ackerman MJ; Maleszewski JJ
    Circ Cardiovasc Genet; 2017 Dec; 10(6):. PubMed ID: 29237689
    [TBL] [Abstract][Full Text] [Related]  

  • 18. A targeted gene capture next-generation sequencing panel for genetic screening of newborns.
    Peng Q; Liu G; Zhu P; Wu C; He X; Li W; Rao C; Li S; Lu X
    J Pak Med Assoc; 2020 Oct; 70(10):1789-1794. PubMed ID: 33159754
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Metabolic Signatures of Cystic Fibrosis Identified in Dried Blood Spots For Newborn Screening Without Carrier Identification.
    DiBattista A; McIntosh N; Lamoureux M; Al-Dirbashi OY; Chakraborty P; Britz-McKibbin P
    J Proteome Res; 2019 Mar; 18(3):841-854. PubMed ID: 30507207
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Targeted exome sequencing strategy (NeoEXOME) for Chinese newborns using a pilot study with 3423 neonates.
    Cao Z; He X; Wang D; Gu M; Suo F; Qiang R; Zhang R; Song C; Wang X; Zhu B; Cao D; Yu H; Qu Y; Shen G; Wu J; Wang P; Wang J; Zhang H; Yan Z; Yu G; Zou L
    Mol Genet Genomic Med; 2024 Jan; 12(1):e2357. PubMed ID: 38284445
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 12.