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Public Health Genomics and Precision Health Knowledge Base (v9.0)
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Public Health Genomics Branch
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Precision Health Database|Search|Public Health Genomics and Precision Health Knowledge Base (PHGKB)
Reproductive and Child Health
Last data update: Apr 18, 2024
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Newborn Screening[original query]>>Reviews/Commentaries[Product Type]
Newborn Screening: Current Practice and Our Journey over the Last 60 Years.
Jing Cao et al. J Appl Lab Med 2024
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SPARKing New Insight Into Autism Across the Lifespan.
Khemika K Sudnawa et al. Am J Intellect Dev Disabil 2024 129(2) 91-95
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Comprehensive Care in Sickle Cell Disease.
Ananya Chandra et al. Pediatr Ann 2024 53(2) e43-e46
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Past as Prologue: Predicting Potential Psychosocial–Ethical Burdens of Positive Newborn Screens as Conditions Propagate
LW ush et al, IJNS, February 2024
Challenges and opportunities in spinal muscular atrophy therapeutics.
Crystal J J Yeo et al. Lancet Neurol 2024 23(2) 205-218
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Gene selection for genomic newborn screening: moving towards consensus?
L Downie et al, Genetics in Med, January 23, 2024
The Early Care (0-3 Years) In Duchenne Muscular Dystrophy Meeting Report.
Niki Armstrong et al. J Neuromuscul Dis 2024
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Landscape Analysis of Neurodevelopmental Comorbidities in Newborn Screening Conditions: Challenges and Opportunities
Z Talebizadeh et al, IJNS, January 2024
Bridging the gaps in newborn screening programmes: Challenges and opportunities to detect haemoglobinopathies in Africa.
Seth Twum et al. Afr J Lab Med 2023 12(1) 2225
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Prenatal and postnatal genetic testing toward personalized care: The non-invasive perinatal testing.
Lilla Botos et al. Mol Cell Probes 2023 101942
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Call to Action for Advancing Equitable Genomic Newborn Screening.
Anne L Ersig et al. Public Health Genomics 2023
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Screening for haemoglobin disorders: One size may not fit all.
Lisa M Shook et al. Br J Haematol 2023
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NBSTRN Tools to Advance Newborn Screening Research and Support Newborn Screening Stakeholders
K chan et al, IJNS, October 30, 2023
[Genomic newborn screening-research approaches, challenges, and opportunities].
Heiko Brennenstuhl et al. Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz 2023
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Newborn Screening for Neurodevelopmental Disorders May Exacerbate Health Disparities.
Sarah A Sobotka et al. Pediatrics 2023
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Current challenges and new approaches to implementing optimal management of sickle cell disease in sub-Saharan Africa.
Mwashungi Ally et al. Semin Hematol 2023
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Unequal global implementation of genomic newborn screening.
Ahmad N Abou Tayoun et al. Nat Rev Genet 2023
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[Preimplantation Genetic Testing for Monogenic Disorders: The Role of Neurologists and Challenges].
Shinichiro Yamada et al. Brain Nerve 2023 75(9) 1051-1056
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Diagnostic challenges in CFTR-related metabolic syndrome: Where the guidelines fall short.
Erin F Kallam et al. Paediatr Respir Rev 2023
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Genome Sequencing for Newborn Screening—An Effective Approach for Tackling Rare Diseases
S Jiang et al. JAMA Network Open, September 2023
Newborn sequencing is only part of the solution for better child health.
Luca Brunelli et al. Lancet Reg Health Am 2023 25100581
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Why cystic fibrosis newborn screening programs have failed to meet original expectations… thus far.
Philip M Farrell et al. Mol Genet Metab 2023 107679
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Efficient screening strategies for severe combined immunodeficiencies in newborns.
Maartje Blom et al. Expert Rev Mol Diagn 2023 1-11
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Children with cystic fibrosis are still receiving inconclusive diagnosis despite undergoing newborn screening.
Ioanna Loukou et al. Acta Paediatr 2023
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Is Our Newborn Screening Working Well? A Literature Review of Quality Requirements for Newborn Blood Spot Screening (NBS) Infrastructure and Procedures.
Birgit Odenwald et al. Int J Neonatal Screen 2023 9(3)
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Too many treatable diseases go unnoticed. This could change that.
B Venkataraman, Washington Post, July 26, 2023
Genomic newborn screening: current concerns and challenges.
The Lancet et al. Lancet 2023 402(10398) 265
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Sickle cell disease in the Caribbean: progress in newborn screening, clinical care, and research through collaboration.
Jennifer Knight-Madden et al. Lancet Haematol 2023
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Genomic newborn screening: are we entering a new era of screening?
Ute Spiekerkoetter et al. J Inherit Metab Dis 2023
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Are We Ready for Whole Population Genomic Sequencing of Asymptomatic Newborns?
Danya F Vears et al. Pharmgenomics Pers Med 2023 16681-691
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Page last reviewed:
Feb 1, 2024
Page last updated:
Apr 18, 2024
Content source:
Public Health Genomics Branch in the Division of Blood Disorders and Public Health Genomics
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National Center on Birth Defects and Developmental Disabilities
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