Foundation of the Newborn Screening Translational Research Network and its tools for research

Revised Hammersmith Scale for spinal muscular atrophy: A SMA specific clinical outcome assessment tool

(2017) Danielle Ramsey et al.   PLoS One

Outcomes of cases with 3-methylcrotonyl-CoA carboxylase (3-MCC) deficiency - Report from the Inborn Errors of Metabolism Information System

(2016) RaeLynn Forsyth et al.   MOLECULAR GENETICS AND METABOLISM

A framework for assessing outcomes from newborn screening: on the road to measuring its promise

(2016) Cynthia F. Hinton et al.   MOLECULAR GENETICS AND METABOLISM

Postanalytical tools improve performance of newborn screening by tandem mass spectrometry

(2014) Patricia L. Hall et al.   GENETICS IN MEDICINE

Newborn Screening for Severe Combined Immunodeficiency in 11 Screening Programs in the United States

(2014) Antonia Kwan et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Newborn Screening for SCID in New York State: Experience from the First Two Years

(2014) Beth H. Vogel et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Rare Diseases Research

(2013) Stephen C. Groft   CHEST

Newborn screening for severe combined immunodeficiency and T-cell lymphopenia in California: Results of the first 2 years

(2013) Antonia Kwan et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Expanding research to provide an evidence base for nutritional interventions for the management of inborn errors of metabolism

(2013) Kathryn M. Camp et al.   MOLECULAR GENETICS AND METABOLISM

Laboratory technology for population-based screening for severe combined immunodeficiency in neonates: The winner is T-cell receptor excision circles

(2012) Jennifer M. Puck   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

The long quest for neonatal screening for severe combined immunodeficiency

(2012) Rebecca H. Buckley   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

What questions should newborn screening long-term follow-up be able to answer? A statement of the US Secretary for Health and Human Servicesʼ Advisory Committee on Heritable Disorders in Newborns and Children

(2011) Cynthia F. Hinton et al.   GENETICS IN MEDICINE

Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project

(2011) David M S McHugh et al.   GENETICS IN MEDICINE

Newborn screening conditions: What we know, what we do not know, and how we will know it

(2010) Harvey L. Levy   GENETICS IN MEDICINE

Long-term follow-up after diagnosis resulting from newborn screening: Statement of the US Secretary of Health and Human Services' Advisory Committee on Heritable Disorders and Genetic Diseases in Newborns and Children

(2008) Alex R Kemper et al.   GENETICS IN MEDICINE

Developing a national collaborative study system for rare genetic diseases

(2008) Michael S Watson et al.   GENETICS IN MEDICINE