Edward R McCabe

Summary

Affiliation: University of California
Country: USA

Publications

  1. ncbi request reprint State-of-the-art for DNA technology in newborn screening
    E R McCabe
    Mattel Children s Hospital at UCLA, Los Angeles, CA, USA
    Acta Paediatr Suppl 88:58-60. 1999
  2. ncbi request reprint American Pediatric Society presidential address 2007: Robust complex networks in health, disease and international pediatric research
    Edward R B McCabe
    Mattel Children s Hospital, The University of California Los Angeles, Los Angeles, CA 90095, USA
    Pediatr Res 62:374-9. 2007
  3. ncbi request reprint DNA diagnosis confirms hemoglobin deletion in newborn screen follow-up
    Urvashi Bhardwaj
    Departments of Pediatrics and Human Genetics, David Geffen School of Medicine at UCLA, Mattel Children s Hospital at UCLA, and Molecular Biology Institute, UCLA, Los Angeles, California 90095 1752, USA
    J Pediatr 142:346-8. 2003
  4. ncbi request reprint Molecular genetics of adrenal hypoplasia congenita
    Edward R B McCabe
    Mattel Children s Hospital at UCLA, Department of Pediatrics, David Geffen School of Medicine at UCLA, Los Angeles, CA 90095, USA
    Endocr Res 28:609. 2002
  5. pmc DAX1: Increasing complexity in the roles of this novel nuclear receptor
    Edward R B McCabe
    Mattel Children s Hospital at UCLA, Los Angeles, CA 90095 1752, United States
    Mol Cell Endocrinol 265:179-82. 2007
  6. ncbi request reprint Complexity in genetic diseases: how patients inform the science by ignoring the dogma
    Linda L McCabe
    Mattel Children s Hospital at UCLA, Los Angeles, California 90095 1752, USA
    Am J Med Genet A 140:160-1. 2006
  7. doi request reprint Nanopediatrics: enabling personalized medicine for children
    Edward R B McCabe
    Departments of Pediatrics and Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, California 90095, USA
    Pediatr Res 67:453-7. 2010
  8. ncbi request reprint Hirschsprung's disease: dissecting complexity in a pathogenetic network
    Edward R B McCabe
    Department of Pediatrics, UCLA School of Medicine, Los Angeles, CA 90095 1752, USA
    Lancet 359:1169-70. 2002
  9. doi request reprint Inborn Errors of Metabolism: the metabolome is our world. Presidential address for the 11th International Congress of Inborn Errors of Metabolism (ICIEM)
    Edward R B McCabe
    Mattel Children s Hospital UCLA, MDCC 22 412, David Geffen School of Medicine at UCLA, 10833 Le Conte Ave, Los Angeles, CA 90095 1752, USA
    Mol Genet Metab 100:1-5. 2010
  10. doi request reprint ff1b, the SF1 ortholog, is important for pancreatic islet cell development in zebrafish
    Jaime K Mazilu
    Department of Bioengineering, Henry Samueli School of Engineering and Applied Science, University of California Los Angeles, Los Angeles, CA 90095, USA
    Mol Genet Metab 101:391-4. 2010

Research Grants

Collaborators

Detail Information

Publications48

  1. ncbi request reprint State-of-the-art for DNA technology in newborn screening
    E R McCabe
    Mattel Children s Hospital at UCLA, Los Angeles, CA, USA
    Acta Paediatr Suppl 88:58-60. 1999
    ..Newborn screening dried blood specimens are DNA databases. Therefore, there are significant ethical, legal and social issues that must be considered in the storage and utilization of neonatal screening specimens...
  2. ncbi request reprint American Pediatric Society presidential address 2007: Robust complex networks in health, disease and international pediatric research
    Edward R B McCabe
    Mattel Children s Hospital, The University of California Los Angeles, Los Angeles, CA 90095, USA
    Pediatr Res 62:374-9. 2007
  3. ncbi request reprint DNA diagnosis confirms hemoglobin deletion in newborn screen follow-up
    Urvashi Bhardwaj
    Departments of Pediatrics and Human Genetics, David Geffen School of Medicine at UCLA, Mattel Children s Hospital at UCLA, and Molecular Biology Institute, UCLA, Los Angeles, California 90095 1752, USA
    J Pediatr 142:346-8. 2003
    ..This approach will provide rapid diagnostic clarification in newborn screening follow-up...
  4. ncbi request reprint Molecular genetics of adrenal hypoplasia congenita
    Edward R B McCabe
    Mattel Children s Hospital at UCLA, Department of Pediatrics, David Geffen School of Medicine at UCLA, Los Angeles, CA 90095, USA
    Endocr Res 28:609. 2002
  5. pmc DAX1: Increasing complexity in the roles of this novel nuclear receptor
    Edward R B McCabe
    Mattel Children s Hospital at UCLA, Los Angeles, CA 90095 1752, United States
    Mol Cell Endocrinol 265:179-82. 2007
    ..Model organisms (mice and zebrafish) are being used to identify other DAX1 functions and modifier genes to understand the pathogenesis of AHC and the lack of genotype-phenotype correlation...
  6. ncbi request reprint Complexity in genetic diseases: how patients inform the science by ignoring the dogma
    Linda L McCabe
    Mattel Children s Hospital at UCLA, Los Angeles, California 90095 1752, USA
    Am J Med Genet A 140:160-1. 2006
  7. doi request reprint Nanopediatrics: enabling personalized medicine for children
    Edward R B McCabe
    Departments of Pediatrics and Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, California 90095, USA
    Pediatr Res 67:453-7. 2010
    ..quot; We will conclude this introductory review with a summary of the reasons for developing the discipline of nanopediatrics...
  8. ncbi request reprint Hirschsprung's disease: dissecting complexity in a pathogenetic network
    Edward R B McCabe
    Department of Pediatrics, UCLA School of Medicine, Los Angeles, CA 90095 1752, USA
    Lancet 359:1169-70. 2002
  9. doi request reprint Inborn Errors of Metabolism: the metabolome is our world. Presidential address for the 11th International Congress of Inborn Errors of Metabolism (ICIEM)
    Edward R B McCabe
    Mattel Children s Hospital UCLA, MDCC 22 412, David Geffen School of Medicine at UCLA, 10833 Le Conte Ave, Los Angeles, CA 90095 1752, USA
    Mol Genet Metab 100:1-5. 2010
    ....
  10. doi request reprint ff1b, the SF1 ortholog, is important for pancreatic islet cell development in zebrafish
    Jaime K Mazilu
    Department of Bioengineering, Henry Samueli School of Engineering and Applied Science, University of California Los Angeles, Los Angeles, CA 90095, USA
    Mol Genet Metab 101:391-4. 2010
    ....
  11. ncbi request reprint Genome-wide testing: genomic medicine: commentary on the article by Bar-Shira et al. on page 353
    Sean A McGhee
    Department of Pediatrics, David Giffin School of Medicine, Mattel Children s Hospital, University of California, Los Angeles, CA 90095, USA
    Pediatr Res 60:243-4. 2006
  12. ncbi request reprint Two-tiered universal newborn screening strategy for severe combined immunodeficiency
    Sean A McGhee
    Department of Pediatrics Immunology, David Geffen School of Medicine, University of California, Los Angeles, CA, USA
    Mol Genet Metab 86:427-30. 2005
    ..Sensitivity was 85% for IL-7 screening and 100% for TREC screening. A two-tiered strategy may be of sufficient accuracy to enable universal SCID screening, and should be assessed in a prospective trial...
  13. ncbi request reprint Potential costs and benefits of newborn screening for severe combined immunodeficiency
    Sean A McGhee
    Department of Pediatrics, David Geffen School of Medicine at UCLA, Los Angeles, CA, 90095 1752, USA
    J Pediatr 147:603-8. 2005
    ..SCID is a candidate for universal newborn screening, so there is a need to determine under which circumstances screening would be cost-effective...
  14. ncbi request reprint Genetic screening: carriers and affected individuals
    Linda L McCabe
    Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles 90095, USA
    Annu Rev Genomics Hum Genet 5:57-69. 2004
    ..Ethical concerns regarding the timing of population screening, as well as the scope of use of information, will need to be resolved if genomic medicine will achieve its promise of a predictive, preventive, and personalized medicine...
  15. ncbi request reprint IL1RAPL1 is associated with mental retardation in patients with complex glycerol kinase deficiency who have deletions extending telomeric of DAX1
    Yao Hua Zhang
    Department of Pediatrics, UCLA School of Medicine, Los Angeles, California 90095 7088, USA
    Hum Mutat 24:273. 2004
    ..Our data are consistent with the association of IL1RAPL1 gene deletion and MR in the majority of patients with cGKD and deletions extending telomeric from DAX1...
  16. doi request reprint Expanded newborn screening: implications for genomic medicine
    Linda L McCabe
    Departments of Human Genetics and Pediatrics, David Geffen School of Medicine at the University of California, Los Angeles 90095, USA
    Annu Rev Med 59:163-75. 2008
    ..The lessons learned from NBS will provide important insights as we move into the predictive, preventive, and personalized era of genomic medicine...
  17. ncbi request reprint Dosage-sensitive sex reversal adrenal hypoplasia congenita critical region on the X chromosome, gene 1 (DAX1) (NR0B1) and small heterodimer partner (SHP) (NR0B2) form homodimers individually, as well as DAX1-SHP heterodimers
    Anita K Iyer
    Department of Human Genetics, David Geffen School of Medicine at University of California Los Angeles, Los Angeles, California 90095 1752, USA
    Mol Endocrinol 20:2326-42. 2006
    ....
  18. ncbi request reprint Newborn screening as a model for population screening
    Linda L McCabe
    Department of Human Genetics, MDCC 22 412, UCLA School of Medicine, 10833 Le Conte Ave, Los Angeles, CA 90095 1752, USA
    Mol Genet Metab 75:299-307. 2002
  19. ncbi request reprint A familial missense mutation in the hinge region of DAX1 associated with late-onset AHC in a prepubertal female
    Pascal Bernard
    Department of Human Genetics, David Geffen School of Medicine at the University of California, Los Angeles, CA 90095 7088, USA
    Mol Genet Metab 88:272-9. 2006
    ..In vitro assays demonstrate that the C200W mutant retains the ability to functionally interact with SF1, which suggests that SF1-independent interactions of DAX1 could be responsible for the import defect...
  20. ncbi request reprint Rapid confirmation of Southeast Asian and Filipino alpha-thalassemia genotypes from newborn screening specimens
    Urvashi Bhardwaj
    Department of Pediatrics, UCLA School of Medicine, Los Angeles, California 90095 1752, USA
    Am J Hematol 71:56-8. 2002
    ....
  21. pmc LXXLL motifs and AF-2 domain mediate SHP (NR0B2) homodimerization and DAX1 (NR0B1)-DAX1A heterodimerization
    Anita K Iyer
    Department of Human Genetics, David Geffen School of Medicine at UCLA, and Mattel Children s Hospital at UCLA, Los Angeles, CA 90095 1752, USA
    Mol Genet Metab 92:151-9. 2007
    ..These resemble coactivator-receptor interactions that may have potential functional consequences for molecular mechanisms of the NR0B family...
  22. ncbi request reprint NR0B1A: an alternatively spliced form of NR0B1
    John Ho
    Department of Human Genetics, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA
    Mol Genet Metab 83:330-6. 2004
    ..The identification of NR0B1A and the deduced DAX1A requires reinterpretation of many previous experiments involving expression and knockout of NR0B1 and DAX1...
  23. ncbi request reprint Neonatal hemoglobinopathy screening: molecular genetic technologies
    Urvashi Bhardwaj
    Department of Pediatrics, 22 412 MDCC, David Geffen School of Medicine at UCLA, 10833 Le Conte Avenue, Los Angeles, CA 90095 1752, USA
    Mol Genet Metab 80:129-37. 2003
  24. ncbi request reprint Representational oligonucleotide microarray analysis (ROMA) and comparison of binning and change-point methods of analysis: application to detection of del22q11.2 (DiGeorge) syndrome
    Christopher M Stanczak
    Department of Human Genetics, David Geffen School of Medicine at the University of California, Los Angeles UCLA, Los Angeles, California 90095 1752, USA
    Hum Mutat 29:176-81. 2008
    ..For circumstances in which a clear, a priori, copy-number change hypothesis is not present, such as in many clinical samples, change-point methods of analysis may be easier to interpret...
  25. ncbi request reprint Deletion mapping in Xp21 for patients with complex glycerol kinase deficiency using SNP mapping arrays
    Christopher M Stanczak
    Department of Human Genetics, David Geffen School of Medicine at the University of California Los Angeles, Los Angeles, California 90095 1752, USA
    Hum Mutat 28:235-42. 2007
    ..S. neonates annually) reported to have cytogenetic disorders, we envision a significant need for such a standardized platform to carry out rapid, high-throughput, genomic analyses for molecular cytogenetics applications...
  26. ncbi request reprint Molecular genetic confirmatory testing from newborn screening samples for the common African-American, Asian Indian, Southeast Asian, and Chinese beta-thalassemia mutations
    Urvashi Bhardwaj
    Department of Pediatrics, David Geffen School of Medicine at UCLA and Mattel Children s Hospital at UCLA, Los Angeles, California 90095 1752, USA
    Am J Hematol 78:249-55. 2005
    ..Multiplexed ARMS for ethnic-specific beta-thalassemia mutations from the original newborn screening dried blood specimens is a rapid and efficient approach for diagnostic confirmation...
  27. ncbi request reprint Characterization of the human glycerol kinase promoter: identification of a functional HNF-4alpha binding site and evidence for transcriptional activation
    Sevan V Stepanian
    Department of Pediatrics, David Geffen School of Medicine at UCLA and Mattel Children s Hospital at UCLA, Los Angeles, CA, USA
    Mol Genet Metab 80:412-8. 2003
    ..The involvement of both GK and HNF-4alpha in the etiology of diabetes mellitus is intriguing, and we speculate that HNF-4alpha represents a potential modifier of the GKD phenotype...
  28. doi request reprint Weighted gene co-expression network analysis identifies biomarkers in glycerol kinase deficient mice
    Nicole K Maclennan
    Department of Pediatrics, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, CA 90095 1752, USA
    Mol Genet Metab 98:203-14. 2009
    ..This first application of WGCNA to mouse knockout data provides insights into the molecular mechanisms of GKD pathogenesis. The resulting systems-genetic gene screening method identifies candidate biomarkers for GKD...
  29. ncbi request reprint DAX1 and its network partners: exploring complexity in development
    Robert Clipsham
    UCLA Molecular Biology Institute, Los Angeles, CA, USA
    Mol Genet Metab 80:81-120. 2003
    ..This network analysis will help us to understand normal and abnormal development of the HPAG. In addition, these studies permit identification of candidate genes for human inborn errors of HPAG development...
  30. ncbi request reprint Molecular mechanisms of DAX1 action
    Anita K Iyer
    Department of Human Genetics, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA
    Mol Genet Metab 83:60-73. 2004
    ..DAX1 may have pleiotropic roles in addition to its function as a negative regulator of steroidogenesis during the development and adult function of the HPAG axis...
  31. ncbi request reprint Serum-free cultures of murine adrenal cortical cells
    Yinting Chu
    Department of Bioengineering, Henry Samueli School of Engineering, University of California, Los Angeles, CA 90095, USA
    J Pediatr Surg 41:2008-12. 2006
    ..The feasibility of culturing murine adrenal cortical cells before transplantation was investigated in this study...
  32. ncbi request reprint National collaborative study groups: structure, benefits gained and potential for rare genetic diseases
    Theodore B Moore
    Division of Hematology Oncology, Department of Pediatrics, David Geffen School of Medicine at UCLA, Los Angeles, California, USA
    Genet Med 8:793-6. 2006
  33. ncbi request reprint Newborn screening: rationale for a comprehensive, fully integrated public health system
    Linda L McCabe
    Department of Human Genetics, David Geffen School of Medicine at UCLA, Los Angeles, CA 90095 1752, USA
    Mol Genet Metab 77:267-73. 2002
    ..In order to understand these challenges, it is helpful to review briefly the history of newborn screening...
  34. ncbi request reprint Targeted disruption of glycerol kinase gene in mice: expression analysis in liver shows alterations in network partners related to glycerol kinase activity
    Nicole K Maclennan
    Department of Pediatrics, David Geffen School of Medicine at UCLA, Los Angeles, CA 90095 7088, USA
    Hum Mol Genet 15:405-15. 2006
    ..These studies show that Gyk deletion causes alterations in expression of genes in several regulatory networks and is the first time NCA has been used to expand on microarray data from a mouse KO model of a human disease...
  35. ncbi request reprint Asymptomatic isolated human glycerol kinase deficiency associated with splice-site mutations and nonsense-mediated decay of mutant RNA
    Yao Hua Zhang
    Department of Pediatrics, David Geffen School of Medicine at UCLA, Los Angeles, CA 90095, USA
    Pediatr Res 59:590-2. 2006
    ..Normal RNA species observed in each patient are likely responsible for their mild phenotypes. We speculate that influences on RNA processing and protein stability represent modifiers of the GKD phenotype...
  36. ncbi request reprint Multiplex-PCR assay for the deletions causing hereditary persistence of fetal hemoglobin
    Urvashi Bhardwaj
    Department of Pediatrics, David Geffen School of Medicine at University of California, Los Angeles, UCLA, and Mattel Children s Hospital at UCLA, USA
    Mol Diagn 9:151-6. 2005
    ..To date, eight deletions of variable size and position have been reported for HPFH. Southern hybridization and PCR are the most common methods used to detect each deletion...
  37. pmc Single-gene disorders: what role could moonlighting enzymes play?
    Ganesh Sriram
    Department of Human Genetics, David Geffen School of Medicine at UCLA, Los Angeles, CA 90095 7088, USA
    Am J Hum Genet 76:911-24. 2005
    ....
  38. ncbi request reprint Human and murine glycerol kinase: influence of exon 18 alternative splicing on function
    Riki H Ohira
    Department of Human Genetics, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA
    Biochem Biophys Res Commun 331:239-46. 2005
    ..These data suggest specific and divergent roles for GK+EX18 and GK-EX18 in cellular metabolism and development...
  39. ncbi request reprint Rapid, species-specific detection of uropathogen 16S rDNA and rRNA at ambient temperature by dot-blot hybridization and an electrochemical sensor array
    Chien Pin Sun
    Biomedical Engineering Department, Henry Samueli School of Engineering and Applied Science, UCLA, Los Angeles, CA, USA
    Mol Genet Metab 84:90-9. 2005
    ..These results demonstrate that molecular hybridization approaches can be adapted to rapid, room temperature conditions ideal for an electrochemical sensor array platform...
  40. pmc The expression of nr0b1, the earliest gene in zebrafish tooth development, is a marker for human tooth and ameloblastoma formation
    Jamie Powers
    Department of Pediatrics, David Geffen School of Medicine, UCLA, MDCC B2 375, Los Angeles, CA 90095, USA
    Dev Genes Evol 219:419-25. 2009
    ..The association of NR0B1 and its protein product DAX1 with primary tooth development and ameloblastoma tumorigenesis is an association not previously described...
  41. doi request reprint Linking process to outcome: are we training pediatricians to meet evolving health care needs?
    M Douglas Jones
    Department of Pediatrics, University of Colorado Denver, School of Medicine, Aurora, CO 80045, USA
    Pediatrics 123:S1-7. 2009
    ....
  42. ncbi request reprint Direct-to-consumer genetic testing: access and marketing
    Linda L McCabe
    Department of Human Genetics and Pediatrics, David Geffen School of Medicine at UCLA, Los Angeles, California, USA
    Genet Med 6:58-9. 2004
  43. ncbi request reprint Novel role for the orphan nuclear receptor Dax1 in embryogenesis, different from steroidogenesis
    Kathy K Niakan
    Department of Human Genetics, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA
    Mol Genet Metab 88:261-71. 2006
    ..Our results further suggest that the failure of conventional murine Nr0b1 knockout attempts may be due to disregulated differentiation...
  44. pmc Conserved family of glycerol kinase loci in Drosophila melanogaster
    Julian A Martinez Agosto
    Department of Pediatrics, David Geffen School of Medicine at UCLA, USA
    Mol Genet Metab 88:334-45. 2006
    ..Investigation of GK function in Drosophila will inform us about the role of this enzyme in development and will provide us with a tool to examine genetic modifiers of human metabolic disorders...
  45. ncbi request reprint Translational genomics in medical genetics
    Edward R B McCabe
    American College of Medical Genetics
    Genet Med 4:468-71. 2002
  46. ncbi request reprint Population screening in the age of genomic medicine
    Muin J Khoury
    Office of Genomics and Disease Prevention, Centers for Disease Control and Prevention, Atlanta, USA
    N Engl J Med 348:50-8. 2003
  47. ncbi request reprint Editorial: Vulnerability within a robust complex system-DAX-1 mutations and steroidogenic axis development
    Edward R B McCabe
    J Clin Endocrinol Metab 87:41-3. 2002
  48. doi request reprint Developing a national collaborative study system for rare genetic diseases
    Michael S Watson
    American College of Medical Genetics, Bethesda, Maryland 20814, USA
    Genet Med 10:325-9. 2008
    ....

Research Grants26

  1. Oral History of Human Genetics: The Intelligent Archive
    Edward McCabe; Fiscal Year: 2009
    ..3. suggest new directions for research. ..
  2. MOLECULAR GENETIC STUDIES OF GLYCEROL KINASE DEFICIENCY
    Edward McCabe; Fiscal Year: 2003
    ....
  3. MOLECULAR MECHANISMS OF ADRENAL DEVELOPMENT
    Edward McCabe; Fiscal Year: 2004
    ..In addition, we will elucidate mechanisms and identify candidate genes for pathologic processes as varied as adrenal cortical aplasia, hypoplasia and tumorigenesis. ..
  4. UCLA Child Health Research Career Development Award
    Edward McCabe; Fiscal Year: 2007
    ..We propose to support four scholars per year through the CHRCDA, thereby increasing the number of scholars trained by this program towards becoming the future successful independent investigators with established research programs. ..
  5. Oral History of Human Genetics: The Intelligent Archive
    Edward McCabe; Fiscal Year: 2006
    ..3. suggest new directions for research. ..
  6. HUMAN AND MOLECULAR DEVELOPMENT TRAINING PROGRAM
    Edward McCabe; Fiscal Year: 2007
    ....