Inborn Errors of Metabolism: The metabolome is our world. Presidential address for the 11th International Congress of Inborn Errors of Metabolism (ICIEM)

Molecular Genetics and Metabolism

Volumn 100, Issue 1, 2010, Pages 1-5

  McCabe, Edward R B ^a  

^a MATTEL CHILDREN S HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALGORITHM; ARTICLE; GENETIC ASSOCIATION; GENETIC VARIABILITY; INBORN ERROR OF METABOLISM; MEDICAL RESEARCH; METABOLOME; MOLECULAR GENETICS; NEWBORN SCREENING; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; SYSTEMS BIOLOGY; TANDEM MASS SPECTROMETRY;

EID: 77950627160     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2010.01.009     Document Type: Note

References (29)

1. Ferrol Sams Jr Biography (http://biography.jrank.org/pages/4712/Sams-Ferrol-Jr.html: accessed December 28, 2009).
2. Sams F. The Passing: Stories (1988), Longstreet Press, Marietta GA p. 76
3. Garrod A. The incidence of alkaptonuria: a study in chemical individuality. Lancet 2 (1902) 1616-1620
4. J.B. Stanbury, J.B. Wyngaarden, D.S. Fredrickson (Eds.), The Metabolic Basis of Inherited Disease editions 1-5, McGraw-Hill, New York, 1960, 1966, 1972, 1978, 1983.
5. S.I. Goodman, An introduction to gas chromatography-mass spectrometry and the inherited organic acidemias, Am. J. Hum. Genet. (1980) 781-792.
6. Goodman S.I., and Markey S.P. Diagnosis of Organic Acidemias by Gas Chromatography-Mass Spectrometry (1981), Alan Liss, New York
7. Goodman S.I., Markey S.P., Moe P.G., Miles B.S., and Teng C.C. Glutaric aciduria; a "new" disorder of amino acid metabolism. Biochem. Med. (1975) 12-21
8. The Gene Index Project, The X-omics revolution count, January 2008, (http://compbio.dfci.harvard.edu/tgi/omics_count.html: accessed December 24, 2009).
9. ArgosBiotech, Current Topics in Biotechnology: X-omes and X-omics http://www.argosbiotech.de/700/omics/Xomics_a.htm: accessed December 24, 2009).
10. Goodacre R. Metabolomics - the way forward. Metabolomics 1 (2005) 1-2
11. Scriver C.R., and Waters P.J. Monogenic traits are not simple: lessons from phenlketonuria. Trends Genet. 15 (1999) 267-272
12. Dipple K.M., and McCabe E.R.B. Phenotypes of patients with "simple" Mendelian disorders are complex traits: thresholds, modifiers, and systems dynamics. Am. J. Hum. Genet. 66 (2000) 1729-1735
13. Dipple K.M., and McCabe E.R.B. Modifier genes convert "simple" Mendelian disorders to complex traits. Mol. Genet. Metab. 71 (2000) 43-50
14. Dipple K.M., Phelan J.K., and McCabe E.R.B. Consequences of complexity within biological networks: robustness and health, or vulnerability and disease. Mol. Genet. Metab. 74 (2001) 45-50
15. Liao J.C., Boscolo R., Yang Y.L., Tran L.M., Sabatti C., and Roychowdhury V.P. Network component analysis: reconstruction of regulatory signals in biological systems. Proc. Natl. Acad. Sci. USA 26 (2003) 15522-15527
16. MacLennan N.K., Rahib L., Shin C., Fang Z., Horvath S., Dean J., Liao J.C., McCabe E.R.B., and Dipple K.M. Targeted disruption of glycerol kinase gene in mice: expression analysis in liver shows alterations in network partners related to glycerol kinase activity. Hum. Mol. Genet. 15 (2006) 405-415
17. Rusk N. Finding copy number variants. Nat. Methods 5 (2008) 917
18. McCarroll S.A., Kuruvilla F.G., Korn J.M., Cawley S., Nemesh J., Wysoker A., Shapero M.H., deBakker P.I.W., Maller J.B., Kirby A., Elliott A.L., Parkin M., Hubbell E., Webster T., Mei R., Veitch J., Collins P.J., Handsakes R., Lincoln S., Nizzari M., Blume J., Jones K.W., Rava R., Daly M.J., Gabriel S.B., and Altshuler D. Integrated detection and population-genetic analysis of SNPs and copy number variation. Nat. Genet. 40 (2008) 1166-1174
19. Cooper G.M., Zerr T., Kidd J.M., Eichler E.E., and Nickerson D.A. Systematic assessment of copy number variant detection via genome-wide SNP genotyping. Nat. Genet. 40 (2008) 1199-1203
20. Korn J.M., Kuruvilla F.G., McCarroll S.A., Wysoker A., Nemesh J., Cawley S., Hubbell E., Veitch J., Collins P.J., Darvishi K., Lee C., Nizzari M.M., Gabriel S.B., Purcell S., Daly M.J., and Altshuler D. Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVs. Nat. Genet. 40 (2008) 1253-1260
21. GenomeWeb, Trio of Nature Genetics papers assesses current array tools for SNP, CNV analysis, BioArray News, October 14, 2008 (http://www.genomeweb.com/print/753129?page=show: accessed June 24, 2009).
22. Bertilsson L., Dahl M.L., Dalen P., and Al-Shurbaji A. Molecular genetics of CYP2D6: clinical relevance with focus on psychotropic drugs. Br. J. Clin. Pharmacol. 53 (2002) 111-122
23. Lee D.-S., Kay K.A., Christakis N.A., Oltvai Z.N., and Barabasi A.-L. The implications of human metabolic network topology for disease comorbidity. Proc. Natl. Acad. Sci. USA 105 (2008) 9880-9885
24. McCabe L.L., and McCabe E.R.B. DNA: Promise and Peril (2008), University of California Press, Berkely pp. 259-276
25. McCabe L.L., and McCabe E.R.B. Expanded newborn screening: implications for genomic medicine. Annu. Rev. Med 59 (2008) 163-175
26. Watson M.S., Mann M.Y., Lloyd-Puryear M.A., Rinaldo P., and Howell R.R. Newborn screening: toward a uniform screening panel and system. Genet. Med. 8 (2006) 1S-11S
27. March of Dimes, States expand newborn screening for life-threatening disorders, February 18, 2009 (http://www.marchofdimes.com/aboutus/22684_51920.asp: accessed December 28, 2009).
28. McCabe E.R.B. American pediatric society presidential address 2007: robust complex networks in health, disease and international pediatric research. Pediatr. Res. 62 2007 (2007) 374-379
29. K. Ohno, Message from the president of the 50th anniversary memorial meeting of JSIMD (http://www2.convention.co.jp/50jsimd/en/greeting/: accessed December 29, 2009).