Publications

The NBSTRN and NBSTRN supported research projects have published numerous articles and meeting reports concerning newborn screening-related research in Genetics in Medicine(GIM) - The Official Journal of the American College of Medical Genetics and Genomics. Areas of focus include long-term follow up, screening and diagnosis guidelines, and policy information. A full list of all newborn screening related articles published by GIM can be found online. 

Please see NBSTRN Recent Publications and NICHD, as well as the table below. As research is completed using NBSTRN resources or services, we will continue provide published results.

Title

Duchenne Muscular Dystrophy Newborn Screening, a Case Study for Examining Ethical and Legal Issues for Pilots for Emerging Disorders: Considerations and Recommendations
A Roadmap to Newborn Screening for Duchenne Muscular Dystrophy
Newborn Sequencing in Genomic Medicine and Public Health
A framework for asessing outcomes from newborn screening: on the road to measuring its promise
Postanalytical tools imrpove performance of newborn screening by tandem mass spectrometry
Newborn Screening for Severe Combined Immunodeficiency in 11 Screening Programs in the United States
Parental Permission for Pilot Newborn Screening Research: Guidelines From the NBSTRN
Primary Immune Deficiency Treatment Consortium (PIDTC) Report
ACMG recommendatgions for reporting of incidental findings in clinical exome and genome sequencing
ACMG statement on noninvasive prenatal screening for fetal aneuploidy
National SCID Pilot Study
Developing a national collaborative study system for rare genetic diseases
Newborn Screening Expands: Recommendations for Pediatricians and Medical Homes--Implications for the System
Committee Report: Advancing the current recommended panel of conditions for newborn screening
Newborn Screening: Toward a Uniform Screening Panel and System--Executive Summary
Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel
Newborn Screening ACT Sheet Severe Combined Immunodeficiency (SCID) and Conditions Associated with T Cell Lymphopenia
Genetics in Medicine

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