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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 23, 2024
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Newborn screening[original query]>>Original Studies[Product Type]
Exploration of clinical and ethical issues in an expanded newborn metabolic screening programme: a qualitative interview study of healthcare professionals in Hong Kong.
O M Y Ngan et al. Hong Kong Med J 2024
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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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Burden of Mendelian disorders in a large Middle Eastern biobank.
Waleed Aamer et al. Genome Med 2024 16(1) 46
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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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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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Birth Prevalence of Sickle Cell Disease and County-Level Social Vulnerability - Sickle Cell Data Collection Program, 11 States, 2016-2020.
Mariam Kayle et al. MMWR Morb Mortal Wkly Rep 2024 73(12) 248-254
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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
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
Sickle cell trait in São Tomé e Príncipe: a population-based prevalence study in women of reproductive age.
Guilherme Queiroz et al. BMC Public Health 2024 24(1) 850
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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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Perceptions and preferences for genetic testing for sickle cell disease or trait: a qualitative study in Cameroon, Ghana and Tanzania.
Nchangwi Syntia Munung et al. Eur J Hum Genet 2024
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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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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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Real-World Outcomes in Patients with Spinal Muscular Atrophy Treated with Onasemnogene Abeparvovec Monotherapy: Findings from the RESTORE Registry.
Laurent Servais et al. J Neuromuscul Dis 2024
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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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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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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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Perception of genomic newborn screening among peripartum mothers.
Bernarda Prosenc et al. Eur J Hum Genet 2023
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Newborn Screening for Spinal Muscular Atrophy: A 2.5-Year Experience in Hyogo Prefecture, Japan.
Shoko Sonehara et al. Genes (Basel) 2023 14(12)
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Life-Saving Treatments for Spinal Muscular Atrophy: Global Access and Availability.
Victor D Armengol et al. Neurol Clin Pract 2023 14(1) e200224
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Newborn Screening for Severe Combined Immunodeficiency: Lessons Learned from Screening and Follow-Up of the Preterm Newborn Population
A Gaviglio et al, IJNS, December 2023
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Page last reviewed:
Feb 1, 2024
Page last updated:
Apr 23, 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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