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 *

190 related articles for article (PubMed ID: 33772220)

  • 1. Discordant results between conventional newborn screening and genomic sequencing in the BabySeq Project.
    Wojcik MH; Zhang T; Ceyhan-Birsoy O; Genetti CA; Lebo MS; Yu TW; Parad RB; Holm IA; Rehm HL; Beggs AH; Green RC; Agrawal PB;
    Genet Med; 2021 Jul; 23(7):1372-1375. PubMed ID: 33772220
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. Genomic Sequencing for Newborn Screening: Results of the NC NEXUS Project.
    Roman TS; Crowley SB; Roche MI; Foreman AKM; O'Daniel JM; Seifert BA; Lee K; Brandt A; Gustafson C; DeCristo DM; Strande NT; Ramkissoon L; Milko LV; Owen P; Roy S; Xiong M; Paquin RS; Butterfield RM; Lewis MA; Souris KJ; Bailey DB; Rini C; Booker JK; Powell BC; Weck KE; Powell CM; Berg JS
    Am J Hum Genet; 2020 Oct; 107(4):596-611. PubMed ID: 32853555
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Implementation of a Targeted Next-Generation Sequencing Panel for Constitutional Newborn Screening in High-Risk Neonates.
    Lee H; Lim J; Shin JE; Eun HS; Park MS; Park KI; Namgung R; Lee JS
    Yonsei Med J; 2019 Nov; 60(11):1061-1066. PubMed ID: 31637888
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the BabySeq Project.
    Ceyhan-Birsoy O; Murry JB; Machini K; Lebo MS; Yu TW; Fayer S; Genetti CA; Schwartz TS; Agrawal PB; Parad RB; Holm IA; McGuire AL; Green RC; Rehm HL; Beggs AH;
    Am J Hum Genet; 2019 Jan; 104(1):76-93. PubMed ID: 30609409
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Actionability of unanticipated monogenic disease risks in newborn genomic screening: Findings from the BabySeq Project.
    Green RC; Shah N; Genetti CA; Yu T; Zettler B; Uveges MK; Ceyhan-Birsoy O; Lebo MS; Pereira S; Agrawal PB; Parad RB; McGuire AL; Christensen KD; Schwartz TS; Rehm HL; Holm IA; Beggs AH;
    Am J Hum Genet; 2023 Jul; 110(7):1034-1045. PubMed ID: 37279760
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. The BabySeq project: implementing genomic sequencing in newborns.
    Holm IA; Agrawal PB; Ceyhan-Birsoy O; Christensen KD; Fayer S; Frankel LA; Genetti CA; Krier JB; LaMay RC; Levy HL; McGuire AL; Parad RB; Park PJ; Pereira S; Rehm HL; Schwartz TS; Waisbren SE; Yu TW; ; Green RC; Beggs AH
    BMC Pediatr; 2018 Jul; 18(1):225. PubMed ID: 29986673
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Psychosocial Effect of Newborn Genomic Sequencing on Families in the BabySeq Project: A Randomized Clinical Trial.
    Pereira S; Smith HS; Frankel LA; Christensen KD; Islam R; Robinson JO; Genetti CA; Blout Zawatsky CL; Zettler B; Parad RB; Waisbren SE; Beggs AH; Green RC; Holm IA; McGuire AL;
    JAMA Pediatr; 2021 Nov; 175(11):1132-1141. PubMed ID: 34424265
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Parental Attitudes Toward Standard Newborn Screening and Newborn Genomic Sequencing: Findings From the BabySeq Study.
    Armstrong B; Christensen KD; Genetti CA; Parad RB; Robinson JO; Blout Zawatsky CL; Zettler B; Beggs AH; Holm IA; Green RC; McGuire AL; Smith HS; Pereira S;
    Front Genet; 2022; 13():867371. PubMed ID: 35571041
    [No Abstract]   [Full Text] [Related]  

  • 11. Utility of whole-genome sequencing for detection of newborn screening disorders in a population cohort of 1,696 neonates.
    Bodian DL; Klein E; Iyer RK; Wong WS; Kothiyal P; Stauffer D; Huddleston KC; Gaither AD; Remsburg I; Khromykh A; Baker RL; Maxwell GL; Vockley JG; Niederhuber JE; Solomon BD
    Genet Med; 2016 Mar; 18(3):221-30. PubMed ID: 26334177
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Public views on participating in newborn screening using genome sequencing.
    Bombard Y; Miller FA; Hayeems RZ; Barg C; Cressman C; Carroll JC; Wilson BJ; Little J; Avard D; Painter-Main M; Allanson J; Giguere Y; Chakraborty P
    Eur J Hum Genet; 2014 Nov; 22(11):1248-54. PubMed ID: 24549052
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. Ethical Issues in Newborn Sequencing Research: The Case Study of BabySeq.
    Ross LF; Clayton EW
    Pediatrics; 2019 Dec; 144(6):. PubMed ID: 31719124
    [TBL] [Abstract][Full Text] [Related]  

  • 15. The role of exome sequencing in newborn screening for inborn errors of metabolism.
    Adhikari AN; Gallagher RC; Wang Y; Currier RJ; Amatuni G; Bassaganyas L; Chen F; Kundu K; Kvale M; Mooney SD; Nussbaum RL; Randi SS; Sanford J; Shieh JT; Srinivasan R; Sunderam U; Tang H; Vaka D; Zou Y; Koenig BA; Kwok PY; Risch N; Puck JM; Brenner SE
    Nat Med; 2020 Sep; 26(9):1392-1397. PubMed ID: 32778825
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Increased mortality in infants with abnormal T-cell receptor excision circles.
    Huang J; Shankar A; Hurden I; Thomas R; Hill J; Seth D; Secord E; Poowuttikul P
    Pediatr Res; 2024 Jul; 96(1):199-207. PubMed ID: 38443525
    [TBL] [Abstract][Full Text] [Related]  

  • 17. The BabySeq Project: A clinical trial of genome sequencing in a diverse cohort of infants.
    Smith HS; Zettler B; Genetti CA; Hickingbotham MR; Coleman TF; Lebo M; Nagy A; Zouk H; Mahanta L; Christensen KD; Pereira S; Shah ND; Gold NB; Walmsley S; Edwards S; Homayouni R; Krasan GP; Hakonarson H; Horowitz CR; Gelb BD; Korf BR; McGuire AL; Holm IA; Green RC
    Am J Hum Genet; 2024 Oct; 111(10):2094-2106. PubMed ID: 39288765
    [TBL] [Abstract][Full Text] [Related]  

  • 18. The tandem mass spectrometry newborn screening experience in North Carolina: 1997-2005.
    Frazier DM; Millington DS; McCandless SE; Koeberl DD; Weavil SD; Chaing SH; Muenzer J
    J Inherit Metab Dis; 2006 Feb; 29(1):76-85. PubMed ID: 16601872
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.
    Huang X; Wu D; Zhu L; Wang W; Yang R; Yang J; He Q; Zhu B; You Y; Xiao R; Zhao Z
    Orphanet J Rare Dis; 2022 Feb; 17(1):66. PubMed ID: 35193651
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Feasibility of Screening for Chromosome 15 Imprinting Disorders in 16 579 Newborns by Using a Novel Genomic Workflow.
    Godler DE; Ling L; Gamage D; Baker EK; Bui M; Field MJ; Rogers C; Butler MG; Murgia A; Leonardi E; Polli R; Schwartz CE; Skinner CD; Alliende AM; Santa Maria L; Pitt J; Greaves R; Francis D; Oertel R; Wang M; Simons C; Amor DJ
    JAMA Netw Open; 2022 Jan; 5(1):e2141911. PubMed ID: 34982160
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.