Genomic Newborn Screening: Baby Steps into the Future

被引:0
|
作者
Wiencek, Joesph R. [1 ,2 ]
机构
[1] Vanderbilt Univ, Sch Med, Dept Pathol Microbiol & Immunol, 1301 Med Ctr Dr, Nashville, TN 37232 USA
[2] 1301 Med Ctr Dr, 4918B TVC, Nashville, TN 37232 USA
关键词
D O I
10.1093/clinchem/hvad021
中图分类号
R446 [实验室诊断]; R-33 [实验医学、医学实验];
学科分类号
1001 ;
摘要
引用
收藏
页码:542 / 543
页数:2
相关论文
共 50 条
  • [21] Testing Baby: The Transformation of Newborn Screening, Parenting, and Policymaking
    Moore, Lisa Jean
    CONTEMPORARY SOCIOLOGY-A JOURNAL OF REVIEWS, 2012, 41 (05) : 636 - 637
  • [22] TESTING BABY: THE TRANSFORMATION OF NEWBORN SCREENING, PARENTING, AND POLICYMAKING
    Timmermans, Stefan
    HEALTH AFFAIRS, 2013, 32 (06) : 1169 - 1170
  • [23] From newborn screening to genomic medicine: challenges and suggestions on how to incorporate genomic newborn screening in public health programs
    Dikow, Nicola
    Ditzen, Beate
    Koelker, Stefan
    Hoffmann, Georg F.
    Schaaf, Christian P.
    MEDIZINISCHE GENETIK, 2022, 34 (01) : 13 - 20
  • [24] Low frequency of treatable pediatric disease alleles in gnomAD: an opportunity for future genomic newborn screening
    Gold, Nina
    Harrison, Steven
    Rowe, Jared
    Gold, Jessica
    Furutani, Elissa
    Biffi, Alessandra
    Duncan, Christine
    Shimamura, Akiko
    Lehmann, Leslie
    Green, Robert
    MOLECULAR GENETICS AND METABOLISM, 2021, 132 : S326 - S328
  • [25] Current situation and new steps in newborn screening in Spain
    Couce, Maria L.
    Cernada, Maria
    Boix, Hector
    Sanchez-Redondo, Maria Dolores
    Fernandez, Maria Gracia Espinosa
    Gonzalez-Pacheco, Noelia
    Martin, Ana
    Perez-Munuzuri, Alejandro
    ANALES DE PEDIATRIA, 2025, 102 (03):
  • [26] Genomic newborn screening: Are we entering a new era of screening?
    Spiekerkoetter, Ute
    Bick, David
    Scott, Richard
    Hopkins, Henrietta
    Krones, Tanja
    Gross, Edith Sky
    Bonham, James R.
    JOURNAL OF INHERITED METABOLIC DISEASE, 2023, 46 (05) : 778 - 795
  • [27] Universal genomic newborn screening for early, treatable, and severe conditions- including 33 genes of NMD: Baby Detect
    Dangouloff, T.
    Hovhannesyan, K.
    Piazzon, F.
    Mashhadizadeh, D.
    Helou, L.
    Palmeira, L.
    Boemer, F.
    Servais, L.
    NEUROMUSCULAR DISORDERS, 2023, 33 : S130 - S131
  • [28] Genomic newborn screening: current concerns and challenges
    不详
    LANCET, 2023, 402 (10398): : 265 - 265
  • [29] Expanded newborn screening: Implications for genomic medicine
    McCabe, Linda L.
    McCabe, Edward R. B.
    ANNUAL REVIEW OF MEDICINE, 2008, 59 : 163 - 175
  • [30] Newborn Screening by Genomic Sequencing: Opportunities and Challenges
    Bick, David
    Ahmed, Arzoo
    Deen, Dasha
    Ferlini, Alessandra
    Garnier, Nicolas
    Kasperaviciute, Dalia
    Leblond, Mathilde
    Pichini, Amanda
    Rendon, Augusto
    Satija, Aditi
    Tuff-Lacey, Alice
    Scott, Richard H.
    INTERNATIONAL JOURNAL OF NEONATAL SCREENING, 2022, 8 (03)