Last Posted: May 21, 2020
- Emerging Approaches for Fluorescence-Based Newborn Screening of Mucopolysaccharidoses.
Singh Rajendra et al. Diagnostics (Basel, Switzerland) 2020 May 10(5) - Empowering newborn screening programs in African countries through establishment of an international collaborative effort.
Therrell Bradford L et al. Journal of community genetics 2020 May - Implementation of population-based newborn screening reveals low incidence of spinal muscular atrophy.
Kay Denise M et al. Genetics in medicine : official journal of the American College of Medical Genetics 2020 May - Breaking the diagnosis of cystic fibrosis to parents: A process not a one-off event.
Bryon Mandy et al. Paediatric respiratory reviews 2020 Apr - Targeted screening failures in neonates with sickle cell disease in metropolitan France from 2005 to 2017: Number of cases, failure circumstances and health at diagnosis.
Remion J et al. Archives de pediatrie : organe officiel de la Societe francaise de pediatrie 2019 26(8) 451-452 - Endocrine components of newborn screening.
Russell Melissa et al. Current problems in pediatric and adolescent health care 2020 May 100772 - Experience with Parent Follow-Up for Communication Outcomes after Newborn Screening Identifies Carrier Status.
Farrell Michael H et al. The Journal of pediatrics 2020 May - Screening 3.4 million newborns for primary carnitine deficiency in Zhejiang Province, China.
Lin Yiming et al. Clinica chimica acta; international journal of clinical chemistry 2020 May 507199-204 - Assessing the Performance of Dried-Blood-Spot DNA Extraction Methods in Next Generation Sequencing
MM Hendrix et al, IntJ Neonatal Screening May 2020 - Assessing the strength of evidence for genes implicated in fatty acid oxidation disorders using the ClinGen clinical validity framework.
McGlaughon Jennifer L et al. Molecular genetics and metabolism 128(1-2) 122-128
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