Newborn screening [NEW TOPIC PAGE] Newborn Screening and Genome Sequencing

Main|Search|PHGKB

Publication
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 Similar articles in PubMed
CDC Grand Rounds: Newborn screening and improved outcomes. et al. MMWR. Morbidity and mortality weekly report 2012 Jun 61(21) 390-3 Similar articles in PubMed
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 Similar articles in PubMed
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 Similar articles in PubMed
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 Similar articles in PubMed
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 Similar articles in PubMed
Clinical Follow-Up For Duchenne Muscular Dystrophy Newborn Screening: A Proposal. Kwon Jennifer M et al. Muscle & nerve 2016 May Similar articles in PubMed
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 Similar articles in PubMed
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 Similar articles in PubMed
Newborn screening for X-linked adrenoleukodystrophy in New York State: Diagnostic protocol, surveillance protocol and treatment guidelines. Similar articles in PubMed
Cystic Fibrosis Screen Positive, Inconclusive Diagnosis (CFSPID): A new designation and management recommendations for infants with an inconclusive diagnosis following newborn screening. Similar articles in PubMed
From newborn screening to population health research: implementation of the Michigan BioTrust for health. Similar articles in PubMed
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. Similar articles in PubMed
Research results: preserving newborn blood samples. Similar articles in PubMed
A disease severity scoring system for children with type 1 Gaucher disease. Similar articles in PubMed
CFTR2: How will it help care? Similar articles in PubMed