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Public Health Genomics and Precision Health Knowledge Base (v8.2)
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Last data update: Jan 28, 2023
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all[original query]>>Newborn Screening[Category]
Validation of a targeted metabolomics panel for improved second-tier newborn screening.
Mak Justin et al. Journal of inherited metabolic disease 2023
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A comprehensive study of mutations in PAH, QDPR, PTS, and PCD genes in Iranian patients with Hyperphenylalaninemia; A systematic review.
Ghanei Mahmoud et al. Human heredity 2023
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Newborn screening for spinal muscular atrophy in Australia: a non-randomised cohort study.
Kariyawasam Didu S et al. The Lancet. Child & adolescent health 2023
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Newborn Screening Long-Term Follow-Up Clinics (Continuity Clinics) in the Philippines during the COVID-19 Pandemic: Continuing Quality Patient Care.
Maceda Ebner Bon G et al. International journal of neonatal screening 2023 9(1)
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Surveillance for the Rare Condition of Sickle Cell Disease in Wisconsin.
Singh Ashima et al. WMJ : official publication of the State Medical Society of Wisconsin 2023 121(4) 297-300
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The Importance of Neonatal Screening for Galactosemia.
Badiu Ti?a Ioana et al. Nutrients 2023 15(1)
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Parental Burden and Quality of Life in 5q-SMA Diagnosed by Newborn Screening.
Kölbel Heike et al. Children (Basel, Switzerland) 2022 9(12)
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Rapid Targeted Genomic Testing: A Powerful Tool for Diagnostic Evaluation of Critically Ill Neonates and Infants With Suspected Genetic Diseases.
Jang Mi-Ae et al. Annals of laboratory medicine 2022 43(3) 223-224
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Assessing the Content Quality of Online Parental Resources about Newborn Metabolic Disease Screening: A Content Analysis.
Ngan Olivia M Y et al. International journal of neonatal screening 2022 8(4)
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Audiological Evidence of Frequent Hereditary Mild, Moderate and Moderate-to-Severe Hearing Loss.
Markova Tatiana et al. Journal of personalized medicine 2022 12(11)
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Neonatal Screening for Sickle Cell Disease in Western Andalusia: Results and Lessons Learnt after 3 Years of Implementation.
Núñez-Jurado David et al. American journal of perinatology 2022
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Evaluation of patients diagnosed with phenylketonuria and biotinidase deficiency by the newborn screening program: a ten-year retrospective study.
Toktas Izzettin et al. The Turkish journal of pediatrics 2022 64(6) 985-992
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Opportunities and challenges for newborn screening and early diagnosis of rare diseases in Latin America.
Giugliani Roberto et al. Frontiers in genetics 2022 131053559
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Evaluation of specificity and sensitivity of IRT/IRT protocol in the cystic fibrosis newborn screening program: 6-year experience of three tertiary centers.
Ramasli Gursoy Tugba et al. European journal of pediatrics 2022
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Newborn genetic testing in the United States and access to needed specialist care, National Survey of Children's Health, 2020: A cross-sectional study.
Wiener R Constance et al. PloS one 2022 17(12) e0279352
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Addition of Galactose-1-phosphate measurement enhances newborn screening for classical galactosemia.
Daas Suha et al. Journal of inherited metabolic disease 2022
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Neurocognitive and mental health impact of adrenoleukodystrophy across the lifespan: Insights for the era of newborn screening.
Pierpont Elizabeth I et al. Journal of inherited metabolic disease 2022
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High rates of anxiety detected in mothers of children with inconclusive cystic fibrosis screening results.
Ginsburg Daniella K et al. Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2022
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Variation in Cystic Fibrosis Newborn Screening Algorithms in the United States.
Rehani Maryann R et al. Pediatric pulmonology 2022
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The modern face of newborn screening.
Chien Yin-Hsiu et al. Pediatrics and neonatology 2022
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Cost-effectiveness of newborn screening for phenylketonuria and congenital hypothyroidism.
Appelberg Kajsa et al. The Journal of pediatrics 2022
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Newbornscreening SMA - From Pilot Project to Nationwide Screening in Germany.
Müller-Felber Wolfgang et al. Journal of neuromuscular diseases 2022
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Evidence and recommendation for mucopolysaccharidosis type II newborn screening in the United States.
Ream Margie A et al. Genetics in medicine : official journal of the American College of Medical Genetics 2022
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Assessing the Content Quality of Online Parental Resources about Newborn Metabolic Disease Screening: A Content Analysis
OMY Ngan et al, IJNS, November 30, 2022
German Newborn Screening for Cystic Fibrosis - Parental perspectives and suggestions for improvements.
Gapp Simon et al. Pediatric pulmonology 2022
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REFINEMENT OF NEWBORN SCREENING FOR CYSTIC FIBROSIS WITH NEXT GENERATION SEQUENCING.
Rock Michael J et al. Pediatric pulmonology 2022
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Missed Cystic Fibrosis Newborn Screening Cases due to Immunoreactive Trypsinogen Levels below Program Cutoffs: A National Survey of Risk Factors.
Kharrazi Martin et al. International journal of neonatal screening 2022 8(4)
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Parental Depression and Anxiety Associated with Newborn Bloodspot Screening for Rare and Variable-Onset Disorders.
Boychuk Natalie A et al. International journal of neonatal screening 2022 8(4)
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Experience of a 2-year spinal muscular atrophy NBS pilot study in Italy: towards specific guidelines and standard operating procedures for the molecular diagnosis.
Abiusi Emanuela et al. Journal of medical genetics 2022
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Newborn Screening for the Diagnosis and Treatment of Duchenne Muscular Dystrophy.
Farrar Michelle A et al. Journal of neuromuscular diseases 2022
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Page last reviewed:
Jul 25, 2022
Page last updated:
Jan 28, 2023
Content source:
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