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Public Health Genomics and Precision Health Knowledge Base (v9.0)
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Precision Health Database|Search|Public Health Genomics and Precision Health Knowledge Base (PHGKB)
Last data update: Apr 21, 2024
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all[original query]>>Newborn Screening[Category]
Newborn Screening for Severe T and B Cell Lymphopenia Using TREC/KREC Detection: A Large-Scale Pilot Study of 202,908 Newborns.
Andrey V Marakhonov et al. J Clin Immunol 2024 44(4) 93
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Clinical Effectiveness of Newborn Screening for Spinal Muscular Atrophy: A Nonrandomized Controlled Trial.
Oliver Schwartz et al. JAMA Pediatr 2024
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Psychosocial Impact of a True-Positive, False-Positive, or Inconclusive Newborn Bloodspot Screening Result: A Questionnaire Study among Parents.
Lieke M van den Heuvel et al. Int J Neonatal Screen 2024 10(1)
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Iowa Newborn Screening Program Experience with Hemoglobinopathy Screening over the Last Two Decades and Its Increasing Global Relevance.
Ryan Jilek et al. Int J Neonatal Screen 2024 10(1)
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Current Methods of Newborn Screening Follow-Up for Sickle Cell Disease Are Highly Variable and without Quality Assurance: Results from the ENHANCE Study.
Najibah Galadanci et al. Int J Neonatal Screen 2024 10(1)
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Towards genomic-Newborn Screening: Technical feasibility of Exome Sequencing starting from dried blood spots.
Alessia Mauri et al. Mol Genet Metab Rep 2024 39101074
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Newborn screening for Duchenne muscular dystrophy: the perspectives of stakeholders.
Charli Ji et al. Lancet Reg Health West Pac 2024 45101049
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Newborn Screening for Inborn Errors of Metabolism by Next-Generation Sequencing Combined with Tandem Mass Spectrometry
C Tang et al, IJNS, March 2024
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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Parent perspectives following newborn screening resulting in diagnoses of fragile X syndrome or fragile X premutation.
Allyson Corbo et al. Res Dev Disabil 2024 148104719
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Advancing Newborn Screening Long-Term Follow-Up: Integration of Epic-Based Registries, Dashboards, and Efficient Workflows
K Raboin et al, IJNS, March 25, 2024
Improving newborn screening test performance for metachromatic leukodystrophy: Recommendation from a pre-pilot study that identified a late-infantile case for treatment.
Teresa H Y Wu et al. Mol Genet Metab 2024 142(1) 108349
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Parental Engagement in Identifying Information Needs After Newborn Screening for Families of Infants with Suspected Athymia.
Evey Howley et al. J Clin Immunol 2024 44(3) 79
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Assessment of Barriers to Referral and Appointment Wait Times for the Evaluation of Spinal Muscular Atrophy (SMA): Findings from a Web-Based Physician Survey.
Mary A Curry et al. Neurol Ther 2024
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Genetic Information to Share with Parents when Newborn Screening Reveals the Presence of Sickle Cell Trait.
Narcisse Elenga et al. Int J Pediatr 2024 20248910397
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Newborn Screening for Krabbe Disease: Status Quo and Recommendations for Improvements.
Dietrich Matern et al. Int J Neonatal Screen 2024 10(1)
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Leading Risk Factors for Congenital Deafness in the Context of Universal Neonatal Screening: Our Observations in a Four-Year Retrospective Study.
Antoine Paul et al. Int J Neonatal Screen 2024 10(1)
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Diagnostic Accuracy of Creatine Kinase Isoenzyme-MM Test in Newborn Screening for Duchenne Muscular Dystrophy: A Systematic Review and Meta-Analysis.
Liang Tang et al. Pediatr Neurol 2024 15384-91
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Leading Risk Factors for Congenital Deafness in the Context of Universal Neonatal Screening: Our Observations in a Four-Year Retrospective Study
A Paul et al, IJNS, February 2024
The Psychological Impact on Parents of Children who Receive an Inconclusive Diagnosis for Cystic Fibrosis following Newborn Screening: A Systematic Mini-Review.
Ioanna Loukou et al. Children (Basel) 2024 11(1)
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Incidental Detection of Classical Galactosemia through Newborn Screening for Phenylketonuria: A 10-Year Retrospective Audit to Determine the Efficacy of This Approach.
Nathan W P Cantley et al. Int J Neonatal Screen 2024 10(1)
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Landscape Analysis of Neurodevelopmental Comorbidities in Newborn Screening Conditions: Challenges and Opportunities.
Zohreh Talebizadeh et al. Int J Neonatal Screen 2024 10(1)
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Australian Public Perspectives on Genomic Newborn Screening: Risks, Benefits, and Preferences for Implementation.
Fiona Lynch et al. Int J Neonatal Screen 2024 10(1)
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Targeted exome sequencing strategy (NeoEXOME) for Chinese newborns using a pilot study with 3423 neonates.
Ziyang Cao et al. Mol Genet Genomic Med 2024 12(1) e2357
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Gene selection for genomic newborn screening: moving towards consensus?
L Downie et al, Genetics in Med, January 23, 2024
Parental Experiences with Newborn Screening and Gene Replacement Therapy for Spinal Muscular Atrophy.
Alayne P Meyer et al. J Neuromuscul Dis 2023 11(1) 129-142
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Evaluation of newborn hearing screening results of infants with phenylketonuria.
Fatih Yüksel et al. Int J Pediatr Otorhinolaryngol 2024 177111840
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ScreenPlus: A comprehensive, multi-disorder newborn screening program.
Nicole R Kelly et al. Mol Genet Metab Rep 2024 38101037
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Newborn screening for sickle cell anemia in Antalya, Türkiye.
Zeynep Öztürk et al. Turk J Pediatr 2024 65(6) 959-963
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Landscape Analysis of Neurodevelopmental Comorbidities in Newborn Screening Conditions: Challenges and Opportunities
Z Talebizadeh et al, IJNS, January 2024
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Page last reviewed:
Feb 1, 2024
Page last updated:
Apr 21, 2024
Content source:
Public Health Genomics Branch in the Division of Blood Disorders and Public Health Genomics
,
National Center on Birth Defects and Developmental Disabilities
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