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Precision Health Database


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Reproductive and Child Health

Last data update: Jun 24, 2022. (Total: 47910 Documents since 2012)
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Records 1 - 23 (of 23 Records)

Query Trace: Newborn Screening[original query]>>Tools/Methods [Product Type]
Use of Online Newborn Screening Educational Resources for the Education of Expectant Parents: An Improvement in Equity.
Thompson Kristen et al. International journal of neonatal screening 2022 8(2)
A New Approach to Objectively Evaluate Inherited Metabolic Diseases for Inclusion on Newborn Screening Programmes.
Burlina Alberto et al. International journal of neonatal screening 2022 8(2)
PirePred: An Accurate Online Consensus Tool to Interpret Newborn Screening Related Genetic Variants in Structural Context.
Galano-Frutos Juan José et al. The Journal of molecular diagnostics : JMD 2022
Towards a Newborn Screening Common Data Model: The Utah Newborn Screening Data Model.
Jones David et al. International journal of neonatal screening 2021 7(4)
ResultsMyWay: combining Fast Healthcare Interoperability Resources (FHIR), Clinical Quality Language (CQL), and informational resources to create a newborn screening application.
Watkins Michael et al. AMIA ... Annual Symposium proceedings. AMIA Symposium 2021 2021615-623
The Longitudinal Pediatric Data Resource: Facilitating Longitudinal Collection of Health Information to Inform Clinical Care and Guide Newborn Screening Efforts.
Brower Amy et al. International journal of neonatal screening 2021 7(3)
Newborn Screening for Presymptomatic Diagnosis of Complement and Phagocyte Deficiencies.
Dezfouli Mahya et al. Frontiers in immunology 2020 11455
DMD Open-access Variant Explorer (DOVE): A scalable, open-access, web-based tool to aid in clinical interpretation of genetic variants in the DMD gene.
Bailey Mitchell et al. Molecular genetics & genomic medicine 2018 Nov
CDC Grand Rounds: Newborn screening and improved outcomes.
et al. MMWR. Morbidity and mortality weekly report 2012 Jun 61(21) 390-3
Newborn screening for severe combined immunodeficiency: a primer for clinicians.
Biggs Catherine M et al. CMAJ : Canadian Medical Association journal = journal de l'Association medicale canadienne 2017 Dec 189(50) E1551-E1557
The Initial Evaluation of Patients After Positive Newborn Screening: Recommended Algorithms Leading to a Confirmed Diagnosis of Pompe Disease.
Burton Barbara K et al. Pediatrics 2017 Jul 140(Suppl 1) S14-S23
A curated gene list for reporting results of newborn genomic sequencing.
Ceyhan-Birsoy Ozge et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 Jan
Dataset and standard operating procedure for newborn screening of six lysosomal storage diseases: By tandem mass spectrometry.
Elliott Susan et al. Data in brief 2016 Sep 8915-24
Clinical Follow-Up For Duchenne Muscular Dystrophy Newborn Screening: A Proposal.
Kwon Jennifer M et al. Muscle & nerve 2016 May
Community engagement to inform the development of a sickle cell counselor training and certification program in Ghana.
Anie Kofi A et al. Journal of community genetics 2016 Apr
Supporting Parental Decisions About Genomic Sequencing for Newborn Screening: The NC NEXUS Decision Aid.
Lewis Megan A et al. Pediatrics 2016 Jan 137 Suppl 1S16-23
Newborn screening for X-linked adrenoleukodystrophy in New York State: Diagnostic protocol, surveillance protocol and treatment guidelines.
Cystic Fibrosis Screen Positive, Inconclusive Diagnosis (CFSPID): A new designation and management recommendations for infants with an inconclusive diagnosis following newborn screening.
From newborn screening to population health research: implementation of the Michigan BioTrust for health.
Decision-making process for conditions nominated to the recommended uniform screening panel: statement of the US Department of Health and Human Services Secretary's Advisory Committee on Heritable Disorders in Newborns and Children.
Research results: preserving newborn blood samples.
A disease severity scoring system for children with type 1 Gaucher disease.
CFTR2: How will it help care?
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