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Genomics & Health Impact Scan Database|Search|PHGKB

Last data update: Sep 26, 2022. (Total: 49614 Documents since 2012)
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Query Trace: all[original query]>>Newborn Screening[Category]
Diverse Parental Perspectives of the Social and Educational Needs for Expanding Newborn Screening through Genomic Sequencing
GT Timmins et al, Public Health Genomics, September 2022
Mothering a population: How Danish mothers experience newborn dried blood spot samples and their considerations about re-use of samples for research purposes.
Nordfalk Francisca et al. European journal of midwifery 2022 658
Newborn screening for propionic, methylmalonic acidemia and vitamin B12 deficiency. Analysis of 588,793 newborns.
Martín-Rivada Álvaro et al. Journal of pediatric endocrinology & metabolism : JPEM 2022
Diverse Parental Perspectives of the Social and Educational Needs for Expanding Newborn Screening through Genomic Sequencing.
Timmins George Thomas et al. Public health genomics 2022 1-8
Proximal urea cycle defects are challenging to detect with newborn screening: Results of a prospective pilot study using post-analytical tools.
Hall Patricia Liane et al. American journal of medical genetics. Part C, Seminars in medical genetics 2022
Newborn screening research sponsored by the NIH: From diagnostic paradigms to precision therapeutics.
Minear Mollie A et al. American journal of medical genetics. Part C, Seminars in medical genetics 2022
Impact of Pancreatitis-Associated Protein on Newborn Screening Outcomes and Detection of CFTR-Related Metabolic Syndrome (CRMS)/Cystic Fibrosis Screen Positive, Inconclusive Diagnosis (CFSPID): A Monocentric Prospective Pilot Experience.
Bianchimani Chiara et al. International journal of neonatal screening 2022 8(3)
Current attitudes and preconceptions on newborn genetic screening in the Chinese reproductive-aged population.
Wang Xin et al. Orphanet journal of rare diseases 2022 17(1) 322
dbRUSP: An Interactive Database to Investigate Inborn Metabolic Differences for Improved Genetic Disease Screening
J Peng et al, IJNS, August 29, 2022
Expanded Newborn Screening in Italy Using Tandem Mass Spectrometry: Two Years of National Experience.
Ruoppolo Margherita et al. International journal of neonatal screening 2022 8(3)
A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases.
Kingsmore Stephen F et al. American journal of human genetics 2022
Parents' views on accepting, declining, and expanding newborn bloodspot screening.
van der Pal Sylvia M et al. PloS one 2022 17(8) e0272585
Prevalence of glucose-6-phosphate dehydrogenase deficiency in newborns in northeast Mexico.
Villarreal-Martínez Laura et al. American journal of perinatology 2022
Cost-effectiveness analysis of newborn screening by tandem mass spectrometry in Shenzhen, China: value and affordability of new screening technology.
Yu Mingren et al. BMC health services research 2022 22(1) 1039
Diagnostic experiences of Duchenne families and their preferences for newborn screening: A mixed-methods study.
Crossnohere Norah L et al. American journal of medical genetics. Part C, Seminars in medical genetics 2022
Cost-Effectiveness of Newborn Screening for Spinal Muscular Atrophy in The Netherlands.
Velikanova Rimma et al. Value in health : the journal of the International Society for Pharmacoeconomics and Outcomes Research 2022
From Guthrie to Genomes: The Continued Evolution of Newborn Screening
A Gaviglio et al, CDC Blog Post, August 15, 2022
Newborn screening for abnormal haemoglobins in Jamaica: Practical issues in an island programme.
Serjeant Graham R et al. Journal of medical screening 2022 9691413221111209
Real-world Associations of US Cystic Fibrosis Newborn Screening Programs With Nutritional and Pulmonary Outcomes.
Rosenfeld Margaret et al. JAMA pediatrics 2022
Newborn Tandem Mass Spectroscopy Screening for Adenosine Deaminase Deficiency-First Two Years' Experience.
Hartog Nicholas et al. Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & Immunology 2022
Newborn screening for Pompe disease: Parental experiences and follow-up care for a late-onset diagnosis.
Prakash Supraja et al. Journal of genetic counseling 2022
Duchenne expert physician perspectives on Duchenne newborn screening and early Duchenne care.
Armstrong Niki et al. American journal of medical genetics. Part C, Seminars in medical genetics 2022
Different management approaches and outcome for infants with an inconclusive diagnosis following newborn screening for cystic fibrosis (CRMS/CFSPID) and Pseudomonas aeruginosa isolation.
Dolce Daniela et al. Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2022
Newborn Screening by Genomic Sequencing: Opportunities and Challenges.
Bick David et al. International journal of neonatal screening 2022 8(3)
The Progress and Future of US Newborn Screening.
Watson Michael S et al. International journal of neonatal screening 2022 8(3)
Economic Evaluation of Newborn Screening for Severe Combined Immunodeficiency.
Shih Sophy T F et al. International journal of neonatal screening 2022 8(3)
Modelling the Cost-Effectiveness and Budget Impact of a Newborn Screening Program for Spinal Muscular Atrophy and Severe Combined Immunodeficiency.
Shih Sophy T F et al. International journal of neonatal screening 2022 8(3)
Co-designing Improved Communication of Newborn Bloodspot Screening Results to Parents: Mixed Methods Study.
Chudleigh Jane et al. Journal of participatory medicine 2022 14(1) e33485
Making Decisions About Krabbe Disease Newborn Screening.
Kurtzberg Joanne et al. Pediatrics 2022 150(2)
Newborn Screening for Cystic Fibrosis: A Qualitative Study of Successes and Challenges from Universal Screening in the United States.
Sontag Marci K et al. International journal of neonatal screening 2022 8(3)
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