Edwin Naylor to Neonatal Screening
This is a "connection" page, showing publications Edwin Naylor has written about Neonatal Screening.
Connection Strength
2.223
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Development of DNA confirmatory and high-risk diagnostic testing for newborns using targeted next-generation DNA sequencing. Genet Med. 2015 May; 17(5):337-47.
Score: 0.455
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Alternative DNA-based newborn screening for glucose-6-phosphate dehydrogenase deficiency. Mol Genet Metab. 2005 Sep-Oct; 86(1-2):212-9.
Score: 0.240
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Analysis of common mutations in the galactose-1-phosphate uridyl transferase gene: new assays to increase the sensitivity and specificity of newborn screening for galactosemia. J Mol Diagn. 2003 Feb; 5(1):42-7.
Score: 0.203
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The application of tandem mass spectrometry to neonatal screening for inherited disorders of intermediary metabolism. Annu Rev Genomics Hum Genet. 2002; 3:17-45.
Score: 0.192
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Laboratory integration and utilization of tandem mass spectrometry in neonatal screening: a model for clinical mass spectrometry in the next millennium. Acta Paediatr Suppl. 1999 Dec; 88(432):45-7.
Score: 0.163
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Twenty-year follow-up of newborn screening for patients with muscular dystrophy. Muscle Nerve. 2016 Apr; 53(4):570-8.
Score: 0.122
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Rapid diagnosis of maple syrup urine disease in blood spots from newborns by tandem mass spectrometry. Clin Chem. 1995 Jan; 41(1):62-8.
Score: 0.116
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Parental attitudes toward newborn screening for Duchenne/Becker muscular dystrophy and spinal muscular atrophy. Muscle Nerve. 2014 Jun; 49(6):822-8.
Score: 0.111
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Neonatal screening for cystic fibrosis: addition of molecular diagnostics to increase specificity. Biochem Med Metab Biol. 1993 Apr; 49(2):200-11.
Score: 0.103
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Newborn screening for spinal muscular atrophy by calibrated short-amplicon melt profiling. Clin Chem. 2012 Jun; 58(6):1033-9.
Score: 0.096
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New technologies in newborn screening. Yale J Biol Med. 1991 Jan-Feb; 64(1):21-4.
Score: 0.088
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Sudden death in medium chain acyl-coenzyme a dehydrogenase deficiency (MCADD) despite newborn screening. Mol Genet Metab. 2010 Sep; 101(1):33-9.
Score: 0.084
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Effect of expanded newborn screening for biochemical genetic disorders on child outcomes and parental stress. JAMA. 2003 Nov 19; 290(19):2564-72.
Score: 0.054
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Real time PCR assays to detect common mutations in the biotinidase gene and application of mutational analysis to newborn screening for biotinidase deficiency. Mol Genet Metab. 2003 Feb; 78(2):100-7.
Score: 0.051
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Optimization of an automated DNA purification protocol for neonatal screening. Arch Pathol Lab Med. 1999 Dec; 123(12):1154-60.
Score: 0.041
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DNA microarray technology for neonatal screening. Acta Paediatr Suppl. 1999 Dec; 88(432):61-4.
Score: 0.041
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Molecular analysis using targeted next generation DNA sequencing and clinical spectrum of Mexican patients with isovaleric acidemia. Clin Chim Acta. 2020 Feb; 501:216-221.
Score: 0.041
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Mutations in the phenylalanine hydroxylase gene identified in 95 patients with phenylketonuria using novel systems of mutation scanning and specific genotyping based upon thermal melt profiles. Mol Genet Metab. 2007 Jul; 91(3):218-27.
Score: 0.017
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Molecular diagnosis of cystic fibrosis. Clin Lab Med. 1995 Dec; 15(4):877-98.
Score: 0.008