Expanded newborn screening: implications for genomic medicine.

No abstract is available for this paper.

• Publication year

  2008

• Venue

  Annual Review of Medicine

• Publication date

  2008-01-10

• Fields of study

  Medicine

• Identifiers
  DOI 10.1146/annurev.med.59.110106.132016PMID 18186702
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• DNA: Promise and Peril

  2008cited by this paper
• Expanded newborn screening identifies maternal primary carnitine deficiency.

  2007cited by this paper
• Deletion mapping in Xp21 for patients with complex glycerol kinase deficiency using SNP mapping arrays

  2007cited by this paper
• Outcome of neonatal screening for medium-chain acyl-CoA dehydrogenase deficiency in Australia: a cohort study.

  2007cited by this paper
• Genome-wide Testing: Genomic Medicine: Commentary on the article by Bar-Shira et al. on page 353

  2006cited by this paper
• Medicaid Reform: An Opportunity to Focus on the Real Challenges for Children

  2006cited by this paper
• Niflumic Acid and Mucocutaneous Reactions

  2006cited by this paper
• Screening for lysosomal storage disorders—A clinical perspective

  2006cited by this paper
• Newborn screening: toward a uniform screening panel and system.

  2006cited by this paper
• A Vision of the Future of Newborn Screening

  2006cited by this paper
• Comprehensive Cost-Utility Analysis of Newborn Screening Strategies

  2006cited by this paper
• California's Experience Implementing a Pilot Newborn Supplemental Screening Program Using Tandem Mass Spectrometry

  2006cited by this paper
• Economic Evaluation of Tandem Mass Spectrometry Screening in California

  2006cited by this paper
• Heterozygosity for a Mendelian disorder as a risk factor for complex disease

  2006cited by this paper
• ‘Classical’ organic acidurias, propionic aciduria, methylmalonic aciduria and isovaleric aciduria: Long-term outcome and effects of expanded newborn screening using tandem mass spectrometry

  2006cited by this paper
• Direct multiplex assay of enzymes in dried blood spots by tandem mass spectrometry for the newborn screening of lysosomal storage disorders

  2006cited by this paper
• The tandem mass spectrometry newborn screening experience in North Carolina: 1997–2005

  2006cited by this paper
• Tandem mass spectrometry program implementation challenges for state newborn screening programs: national survey of barriers and issues.

  2006cited by this paper
• Newborn Screening: Toward a Uniform Screening Panel and System—Executive Summary

  2006cited by this paper
• Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: A global perspective

  2006cited by this paper
• Making the case for objective performance metrics in newborn screening by tandem mass spectrometry.

  2006cited by this paper
• Pooling of Studies in Meta-analysis of Observational Research Leads to Precise but Spurious Results

  2006cited by this paper
• The epidemiology of medium chain acyl-CoA dehydrogenase deficiency: An update

  2006cited by this paper
• Potential costs and benefits of newborn screening for severe combined immunodeficiency.

  2005cited by this paper
• Expanding screening for rare metabolic disease in the newborn: an analysis of costs, effect and ethical consequences for decision-making in Finland.

  2005cited by this paper
• Molecular genetic confirmatory testing from newborn screening samples for the common African‐American, Asian Indian, Southeast Asian, and Chinese β‐thalassemia mutations

  2005cited by this paper
• Single-gene disorders: what role could moonlighting enzymes play?

  2005cited by this paper
• Two-tiered universal newborn screening strategy for severe combined immunodeficiency.

  2005cited by this paper
• Recent developments and new applications of tandem mass spectrometry in newborn screening

  2004cited by this paper
• Newborn Screening for Lysosomal Storage Disorders: Clinical Evaluation of a Two-Tier Strategy

  2004cited by this paper
• Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: results, outcome, and implications.

  2003cited by this paper
• Neonatal hemoglobinopathy screening: molecular genetic technologies.

  2003cited by this paper
• Population screening in the age of genomic medicine.

  2003cited by this paper
• Newborn screening: rationale for a comprehensive, fully integrated public health system.

  2002cited by this paper
• Rapid confirmation of Southeast Asian and Filipino α‐thalassemia genotypes from newborn screening specimens

  2002cited by this paper
• Newborn screening as a model for population screening.

  2002cited by this paper
• Newborn screening with tandem mass spectrometry: examining its cost-effectiveness in the Wisconsin Newborn Screening Panel.

  2002cited by this paper
• Clinical genetics: Compassion, access, science, and advocacy

  2001cited by this paper
• Glycerol kinase deficiency: Evidence for complexity in a single gene disorder

  2001cited by this paper
• Consequences of complexity within biological networks: robustness and health, or vulnerability and disease.

  2001cited by this paper
• U.S. newborn screening policy dilemmas for the twenty-first century.

  2001cited by this paper
• Glucocorticoids in perinatal medicine: misguided rockets?

  2000cited by this paper
• Phenotypes of patients with "simple" Mendelian disorders are complex traits: thresholds, modifiers, and systems dynamics.

  2000cited by this paper
• US newborn screening system guidelines II: follow-up of children, diagnosis, management, and evaluation. Statement of the Council of Regional Networks for Genetic Services (CORN).

  2000cited by this paper
• Synergistic heterozygosity: disease resulting from multiple partial defects in one or more metabolic pathways.

  2000cited by this paper
• Modifier genes convert "simple" Mendelian disorders to complex traits.

  2000cited by this paper
• Application of molecular genetics in public health: improved follow-up in a neonatal hemoglobinopathy screening program.

  1994cited by this paper
• U.S. newborn screening system guidelines: Statement of the council of regional networks for genetic services

  1992cited by this paper
• Screening for cystic fibrosis: feasibility of molecular genetic analysis of dried blood specimens.

  1991cited by this paper
• DNA from Guthrie spots for diagnosis of DMD by multiplex PCR.

  1990cited by this paper
• Newborn screening for inherited metabolic disease: principles and practice.

  1988cited by this paper
• Consensus conference. Newborn screening for sickle cell disease and other hemoglobinopathies.

  1987cited by this paper
• Prophylaxis with oral penicillin in children with sickle cell anemia. A randomized trial.

  1986cited by this paper
• Principles and practice of screening for disease

  1968cited by this paper
• A SIMPLE PHENYLALANINE METHOD FOR DETECTING PHENYLKETONURIA IN LARGE POPULATIONS OF NEWBORN INFANTS.

  1963cited by this paper

• Promises and challenges of genomic newborn screening (NBS) – lessons from public health NBS programs

  2024cites this paper
• Cartas al editor

  2022cites this paper
• Newborn screening system: Safety, technology, advocacy.

  2021cites this paper
• The mediating effects of public genomic knowledge in precision medicine implementation: A structural equation model approach

  2020cites this paper
• Metabolic Serendipities of Expanded Newborn Screening

  2020cites this paper
• Yenidoğan Tarama Testlerinde Örnek Alınması Ve Gönderilmesinde Hemşirelerin Sorumlulukları / Taking Samples and Sending in Newborn Screening Tests and Responsibilities of Nurses

  2018cites this paper
• Expanded Newborn Screening: Challenges to NICU Nurses

  2017cites this paper
• Long-term outcome of expanded newborn screening at Boston children’s hospital: benefits and challenges in defining true disease

  2017cites this paper
• Next generation sequencing as a follow-up test in an expanded newborn screening programme.

  2017cites this paper
• Integrated Multianalyte Second-Tier Testing for Newborn Screening for MSUD, IVA, and GAMT Deficiencies

  2016cites this paper
• Newborn screening and the era of medical genomics.

  2015cites this paper
• Showing Value in Newborn Screening: Challenges in Quantifying the Effectiveness and Cost-Effectiveness of Early Detection of Phenylketonuria and Cystic Fibrosis

  2015cites this paper
• Adult genetic risk screening.

  2014cites this paper
• Newborn screening: A complex system that requires a culture of safety.

  2014cites this paper
• Imunodeficiência combinada grave: uma revisão da literatura

  2014cites this paper
• Genomics in newborn screening.

  2014cites this paper
• Novel heparan sulfate assay by using automated high-throughput mass spectrometry: Application to monitoring and screening for mucopolysaccharidoses.

  2014cites this paper
• Inborn errors of metabolism and expanded newborn screening: review and update

  2013cites this paper
• OPathPaed service model for expanded newborn screening in Hong Kong SAR, China

  2013cites this paper
• Expanded newborn screening and confirmatory follow-up testing for inborn errors of metabolism detected by tandem mass spectrometry

  2013cites this paper
• Newborn screening and diagnosis of mucopolysaccharidoses.

  2013cites this paper
• Parental attitudes on expanded newborn screening in Hong Kong.

  2012cites this paper
• Bezafibrate can be a new treatment option for mitochondrial fatty acid oxidation disorders: evaluation by in vitro probe acylcarnitine assay.

  2012cites this paper
• Motherhood in the context of Fragile X syndrome: implications for caregiving, work, and romantic-partner relationships

  2011cites this paper
• Triagem neonatal para imunodeficiência combinada grave

  2011cites this paper
• PARENTAL RESPONSES TO NEWBORN SCREENING FOR GENETIC SUSCEPTIBILITY TO TYPE 1 DIABETES

  2011cites this paper
• [Genetic testing in the context of the revision of the French law on bioethics].

  2010cites this paper
• Using genetic diagnosis to determine individual therapeutic utility.

  2010cites this paper
• Nanopediatrics: Enabling Personalized Medicine for Children

  2010cites this paper
• Informed Consent and Multiplex Genetic Screening

  2010cites this paper
• Issues for consideration.

  2010cites this paper
• Genetic Testing and Gene Therapy

  2010cites this paper
• Inborn Errors of Metabolism: the metabolome is our world. Presidential address for the 11th International Congress of Inborn Errors of Metabolism (ICIEM).

  2010cites this paper
• Genetic screening: A primer for primary care.

  2010cites this paper
• Bringing the Social into Genetics: The Psychosocial Genetics Risk Assessment and Management Framework (PG-RAM)

  2010cites this paper
• Development of a routine newborn screening protocol for severe combined immunodeficiency.

  2009cites this paper
• Challenges and developments in tandem mass spectrometry based clinical metabolomics.

  2009cites this paper
• Newborn screening as a system from birth through lifelong care

  2009cites this paper
• Gene therapy for inborn errors of liver metabolism: progress towards clinical applications

  2008cites this paper
• Pharmacology and genetics of autism: implications for diagnosis and treatment.

  2008cites this paper
• The emerging role of primary care in genetics

  2008cites this paper
• American Journal of Epidemiology Commentary the Emergence of Translational Epidemiology: from Scientific Discovery to Population Health Impact

  year unknowncites this paper