Last Posted: Jan 18, 2017
- Are you ready to explore baby's genome?
Eureka Alert, January 17, 2017
- Newborn Sequencing in Genomic Medicine and Public Health
JS Berg et al, Pediatrics, January 2017
- Nine years of newborn screening for classical galactosemia in the Netherlands: Effectiveness of screening methods, and identification of patients with previously unreported phenotypes.
Welling Lindsey et al. Molecular genetics and metabolism 2016 Dec
- The expansion and performance of national newborn screening programmes for cystic fibrosis in Europe.
Barben Jürg et al. Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2016 Dec
- Clinical Genomics - Molecular Pathogenesis Revealed.
Lenardo Michael J et al. The New England journal of medicine 2016 Dec 375(22) 2117-2119
- Costs associated with treatment of severe combined immunodeficiency (SCID) - rationale for newborn screening in Sweden.
Gardulf Ann et al. The Journal of allergy and clinical immunology 2016 Dec
- An evaluation of pregnant women's knowledge and attitudes about newborn bloodspot screening.
Fitzgerald Catherine et al. Midwifery 2016 Nov 4521-27
- Screen and you shall find
ML Hulbert, Science Translational Medicine, December 15, 2016
- Challenges of Implementation of the National Phenylketonuria Screening Program in Iran: A Qualitative Study.
Heidari Alireza et al. Electronic physician 2016 Oct 8(10) 3048-3056
- Mucopolysaccharidosis Type I Newborn Screening: Best Practices for Diagnosis and Management.
Clarke Lorne A et al. The Journal of pediatrics 2016 Dec
- The Risk of Fatty Acid Oxidation Disorders and Organic Acidemias in Children with Normal Newborn Screening.
Wilson Callum et al. JIMD reports 2016 Dec
- Utility of a precursor-to-product ratio in the evaluation of presumptive positives in newborn screening of congenital adrenal hyperplasia.
Tieh P Y et al. Journal of perinatology : official journal of the California Perinatal Association 2016 Dec
- Newborn screening for severe combined immunodeficiency using a novel and simplified method to measure T-cell excision circles (TREC).
Tagliaferri Laura et al. Clinical immunology (Orlando, Fla.) 2016 Dec
- Babies with CF Not Diagnosed in Newborn Screenings Do More Poorly, Study Finds
J Fernandez, CF Foundation, November 18, 2016
- Newborn Screening for Severe Primary Immunodeficiency Diseases in Sweden-a 2-Year Pilot TREC and KREC Screening Study.
Barbaro Michela et al. Journal of clinical immunology 2016 Nov
- Differences in Outcomes between Early and Late Diagnosis of Cystic Fibrosis in the Newborn Screening Era.
Coffey Michael J et al. The Journal of pediatrics 2016 Nov