Connection

Edwin Naylor to Neonatal Screening

This is a "connection" page, showing publications Edwin Naylor has written about Neonatal Screening.
Connection Strength

2.224
  1. 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.
    View in: PubMed
    Score: 0.455
  2. Alternative DNA-based newborn screening for glucose-6-phosphate dehydrogenase deficiency. Mol Genet Metab. 2005 Sep-Oct; 86(1-2):212-9.
    View in: PubMed
    Score: 0.240
  3. 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.
    View in: PubMed
    Score: 0.203
  4. The application of tandem mass spectrometry to neonatal screening for inherited disorders of intermediary metabolism. Annu Rev Genomics Hum Genet. 2002; 3:17-45.
    View in: PubMed
    Score: 0.192
  5. 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.
    View in: PubMed
    Score: 0.163
  6. Twenty-year follow-up of newborn screening for patients with muscular dystrophy. Muscle Nerve. 2016 Apr; 53(4):570-8.
    View in: PubMed
    Score: 0.122
  7. Rapid diagnosis of maple syrup urine disease in blood spots from newborns by tandem mass spectrometry. Clin Chem. 1995 Jan; 41(1):62-8.
    View in: PubMed
    Score: 0.116
  8. Parental attitudes toward newborn screening for Duchenne/Becker muscular dystrophy and spinal muscular atrophy. Muscle Nerve. 2014 Jun; 49(6):822-8.
    View in: PubMed
    Score: 0.111
  9. Neonatal screening for cystic fibrosis: addition of molecular diagnostics to increase specificity. Biochem Med Metab Biol. 1993 Apr; 49(2):200-11.
    View in: PubMed
    Score: 0.103
  10. Newborn screening for spinal muscular atrophy by calibrated short-amplicon melt profiling. Clin Chem. 2012 Jun; 58(6):1033-9.
    View in: PubMed
    Score: 0.096
  11. New technologies in newborn screening. Yale J Biol Med. 1991 Jan-Feb; 64(1):21-4.
    View in: PubMed
    Score: 0.088
  12. Sudden death in medium chain acyl-coenzyme a dehydrogenase deficiency (MCADD) despite newborn screening. Mol Genet Metab. 2010 Sep; 101(1):33-9.
    View in: PubMed
    Score: 0.084
  13. Effect of expanded newborn screening for biochemical genetic disorders on child outcomes and parental stress. JAMA. 2003 Nov 19; 290(19):2564-72.
    View in: PubMed
    Score: 0.054
  14. 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.
    View in: PubMed
    Score: 0.051
  15. Optimization of an automated DNA purification protocol for neonatal screening. Arch Pathol Lab Med. 1999 Dec; 123(12):1154-60.
    View in: PubMed
    Score: 0.041
  16. DNA microarray technology for neonatal screening. Acta Paediatr Suppl. 1999 Dec; 88(432):61-4.
    View in: PubMed
    Score: 0.041
  17. 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.
    View in: PubMed
    Score: 0.041
  18. 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.
    View in: PubMed
    Score: 0.017
  19. Molecular diagnosis of cystic fibrosis. Clin Lab Med. 1995 Dec; 15(4):877-98.
    View in: PubMed
    Score: 0.008
Connection Strength

The connection strength for concepts is the sum of the scores for each matching publication.

Publication scores are based on many factors, including how long ago they were written and whether the person is a first or senior author.