Chen, K. Garcia-Lloret, M. I. McGhee, S. A. Srikanth, S. Gwack, Y. McCabe, E. R. B. Characterization of Immunologic Function in a Case of Hereditary Multiple Intestinal Atresia with Immunodeficiency.
Journal of Allergy and Clinical Immunology.
2009; 123(2):
.
Braskett, M. J. Venick, R. S. Lloret, M. I. G. Jain, A. McDiarmid, S. V. Vargas, J. H. Farme, D. G. McCabe, E. R. B. Busuttil, R. W. McGhee, S. Food allergy and eczema in pediatric liver transplant patients treated with tacrolimus.
Journal of Allergy and Clinical Immunology.
2008; 121(2):
971.
L.L. McCabe and E.R.B. McCabe DNA: Promise and Peril.
2008;
.
L.L. McCabe and E.R.B. McCabe Expanded newborn screening: Implications for genomic medicine.
Annual Review of Medicine
2008; 59:
163-175.
C.M. Stanczak, Z. Chen, S.F. Nelson, M. Suchard, E.R. McCabe, and S. McGhee Representational oligonucleotide microarray analysis (ROMA) .
Human Mutation
2008; 29:
176-181.
McGhee, S. A. Suchard, M. Bhardwaj, U. Zhang, Y. McCabe, E. R. B. Copy number variations in del22q11.2 syndrome.
Journal of Allergy and Clinical Immunology
2007; 119(1):
S176-S176.
Chen, K. McGhee, S. A. McCabe, E. R. B. Development of a newborn screening test for severe combined immunodeficiency using ELISA and dried blood spots.
Journal of Allergy and Clinical Immunology
2007; 119(1):
45.
Ohta, A. T. Chiou, P. Y. Han, T. H. Liao, J. C. Bhardwaj, U. McCabe, E. R. B. Yu, F. Q. Sun, R. Wu, M. C. Dynamic cell and microparticle control via optoelectronic tweezers.
Journal of Microelectromechanical Systems.
2007; 16( 3):
491-499.
E.R. McCabe DAX1: Increasing complexity in the roles of this novel nuclear receptor.
Molecular Cellular Endocrinology
2007; 265-266:
197-182.
C.M. Stanczak, Z. Chen, Y.-H. Zhang, S.F. Nelson, and E.R. McCabe Deletion mapping in Xp21 for patients with complex glycerol kinase defficiency using mapping arrays..
Human Mutation
2007; 28:
235-242.
J.C. Liao, M. Mastali, Y. Li, V. Gau, M.A. Suchard, J. Babbitt, J. Gombein, E.M. Landaw, E.R. McCabe, B.M. Churchill, and D.A. Haake Development of an advanced electrochemical DNA biosensor for bacterial detection.
journal of Molecular Diagnosis
2007; 9:
158-168.
A.K. Iyer, Y.-H. Zhang, and E.R. McCabe LXXLL motifs and AF-2 domain mediate SHP (NR0B2) homodimerization.
Molecular Genetics and Metabolism
2007; 92:
151-159.
E.R. McCabe Robust complex disease and pediatric research.
Pediatric Research
2007; 62:
374-379.
Bhardwaj, U. Zhang, Y. H. Rangwala, Z. McCabe, E. R. B. Completely self-contained cell culture system: From storage to use.
Molecular Genetics and Metabolism.
2006; 89( 1-2):
168-173.
Kosuga, M. MacLennan, N. K. Zhang, Y. H. Grompe, M. McCabe, E. R. B. Generation of a chimeric mouse lacking glycerol kinase in the liver: Understanding the pathogenesis of glycerol kinase deficiency.
Journal of Inherited Metabolic Disease.
2006; 29:
63-63.
Zhang, Y. H. Huang, B. L. Eastman, K. McCabe, L. L. MacLennan, N. K. McCabe, E. R. B. Mouth cell collection device for newborn mice.
Molecular Genetics and Metabolism.
2006; 89( 1-2):
164-167.
P.A. Bernard, L. Ludbrook, G. Queipo, M.-B. Dinulos, Y.-H. Zhang, J.K. Phelan, E.R.B. McCabe, V. Harley, and E. Vilain A familial missense mutationin the hinge region of DAX1 associated with late-onset AHC in a prepubertal female.
Molecular Genetics and Metabolism
2006; 88:
272-279.
Zhang, Y. H. Huang, B. L. Jialal, I. Northrup, H. McCabe, E. R. Dipple, K. M. Asymptomatic isolated human glycerol kinase deficiency associated with splice-site mutations and nonsense-mediated decay of mutant RNA.
Pediatr Res.
2006; 59(4 Pt 1):
590-2.
U. Bhardwaj, Y.-H. Zhang, Z. Rangwala, and E.R. McCabe Completely self-contained cell culture system.
Molecular Genetics and Metabolism
2006; 89:
168-173.
J.A. Martinez-Agosto and E.R. McCabe Conserved family of glycerol kinase loci in Drosophila melanogastor.
Molecular Genetics and Metabolism
2006; 88:
334-345.
A.K. Iyer, Y.-H. Zhang, and E.R. McCabe DAX1(NR0B1) and SHP (NR0B2) form homodiimers individually as well as DAX1-SHP heterodimers.
Molecular Endocrinology
2006; 20:
2326-2342.
S.A. McGhee and E.R. McCabe Genome-wide testing: Genomic medicine.
Pediatric Research
2006; 60:
243-244.
Hutz, J. E. Krause, A. S. Achermann, J. C. Vilain, E. Tauber, M. Lecointre, C. McCabe, E. R. Hammer, G. D. Keegan, C. E. IMAGe association and congenital adrenal hypoplasia: no disease-causing mutations found in the ACD gene.
Mol Genet Metab.
2006; 88(1):
66-70.
Y.-H. Zhang, B.-L. Huang, K. Eastman, L.L. McCabe, N.K. MacLennan, and E.R. McCabe Mouth cell collection device for newborn mice..
Molecular Genetics and Metabolism
2006; 89:
164-167.
T.B. Moore and E.R. McCabe National collaborative study groups..
Genetic Medicine
2006; 8:
793-796.
K.K. Niakan, E.C. Davis, R.C. Clipsham, M. Jiang, D.B. Dehart, K.K. Sulik, and E.R.B. McCabe Novel role for the orphan nuclear receptor Dax1 in embryogenesis, different from steroidogenesis.
Molecular Genetics and Metabolism
2006; 88:
261-271.
Y. Chu, B.M. Wu, E.R. McCabe and J.C. Dunn Serum-free cultures of murine adrenal cortical cells.
Journal of Pediatric Surgery
2006; 41:
2008-2012.
Liao, J. C. Mastali, M. Gau, V. Suchard, M. A. Moller, A. K. Bruckner, D. A. Babbitt, J. T. Li, Y. Gornbein, J. Landaw, E. M. McCabe, E. R. Churchill, B. M. Haake, D. A. Use of electrochemical DNA biosensors for rapid molecular identification of uropathogens in clinical urine specimens.
J Clin Microbiol.
2006; 44(2):
561-70.
Y. Zhao, Z. Yang, J.K. Phelan, D.A. Wheeler, S. Lin, and E.R. McCabe Zebrafish dax1 is required for development of the interrenal organ, the adrenal gland equivalent.
Molecular Endocrinology
2006; 20:
2630-2640.
Davis, E. C. Niakan, K. K. McCabe, E. R. B. Expression of Dax1, and its network partners steroidogenic factor 1 and Wilms tumor 1, in the early murine embryo.
Journal of Investigative Medicine.
2005; 53( 1):
461.
Bhardwaj, U. Zhang, Y. H. Lorey, F. McCabe, L. L. McCabe, E. R. Molecular genetic confirmatory testing from newborn screening samples for the common African-American, Asian Indian, Southeast Asian, and Chinese beta-thalassemia mutations.
Am J Hematol.
2005; 78(4):
249-55.
Bhardwaj, U. McCabe, E. R. Multiplex-PCR assay for the deletions causing hereditary persistence of fetal hemoglobin.
Mol Diagn.
2005; 9(3):
151-6.
McGhee, S. A. Stiehm, E. R. McCabe, E. R. Potential costs and benefits of newborn screening for severe combined immunodeficiency.
J Pediatr.
2005; 147(5):
603-8.
Sun, C. P. Liao, J. C. Zhang, Y. H. Gau, V. Mastali, M. Babbitt, J. T. Grundfest, W. S. Churchill, B. M. McCabe, E. R. Haake, D. A. Rapid, species-specific detection of uropathogen 16S rDNA and rRNA at ambient temperature by dot-blot hybridization and an electrochemical sensor array.
Mol Genet Metab.
2005; 84(1):
90-9.
Sriram, G. Martinez, J. A. McCabe, E. R. Liao, J. C. Dipple, K. M. Single-gene disorders: what role could moonlighting enzymes play?.
Am J Hum Genet.
2005; 76(6):
911-24.
McGhee, S. A. Stiehm, E. R. Cowan, M. Krogstad, P. McCabe, E. R. Two-tiered universal newborn screening strategy for severe combined immunodeficiency.
Mol Genet Metab.
2005; 86(4):
427-30.
Dunn, J. C. Chu, Y. Lam, M. M. Wu, B. M. Atkinson, J. B. McCabe, E. R. Adrenal cortical cell transplantation.
J Pediatr Surg.
2004; 39(12):
1856-8.
McCabe, L. L. McCabe, E. R. Direct-to-consumer genetic testing: access and marketing.
Genet Med.
2004; 6(1):
58-9.
Zhang, Y. H. Huang, B. L. Niakan, K. K. McCabe, L. L. McCabe, E. R. Dipple, K. M. IL1RAPL1 is associated with mental retardation in patients with complex glycerol kinase deficiency who have deletions extending telomeric of DAX1.
Hum Mutat.
2004; 24(3):
273.
Iyer, A. K. McCabe, E. R. Molecular mechanisms of DAX1 action.
Mol Genet Metab.
2004; 83(1-2):
60-73.
Ho, J. Zhang, Y. H. Huang, B. L. McCabe, E. R. NR0B1A: an alternatively spliced form of NR0B1.
Mol Genet Metab.
2004; 83(4):
330-6.
Clipsham, R. Niakan, K. McCabe, E. R. Nr0b1 and its network partners are expressed early in murine embryos prior to steroidogenic axis organogenesis.
Gene Expr Patterns.
2004; 4(1):
3-14.
Truong, C. Lam, M. McCabe, E. R. B. Dunn, J. Adrenal cortical regeneration: Murine models for tissue engineering.
American Journal of Human Genetics
2003; 73(5):
622-622.
Zhao, Y. Liu, N. Phelan, J. K. Yang, Z. Lin, S. McCabe, E. R. B. Analysis of hypothalamic-pituitary-adrenal axis development in zebrafish.
American Journal of Human Genetics
2003; 73(5):
327-327.
Stepanian, S. V. Huyn, S. T. McCabe, E. R. B. Dipple, K. M. Characterization of the human glycerol kinase promoter: Identification of a functional HNF-4 alpha binding site and evidence for transcriptional activation.
Mol Genet Metab
2003; 80(4):
412-8.
Patel, M. Sinsheimer, J. S. McCabe, E. R. B. Arnold, A. P. Compositional constraints on X chromosome and XY gene pairs suggest selection pressure on silent sites.
American Journal of Human Genetics
2003; 73(5):
431-431.
Dipple, K. M. Zhang, Y. H. Huang, B. L. McCabe, E. R. B. Glycerol kinase (GK) splice site mutations associated with nonsense-mediated decay of mutant RNAs and asymptomatic isolated GK deficiency.
American Journal of Human Genetics
2003; 73(5):
458-458.
Dipple, K. M. Stepanian, S. V. Huyn, S. T. McCabe, E. R. B. HNF4 binds the human glycerol kinase promoter and activates transcription of glycerol kinase (GK).
Journal of Inherited Metabolic Disease.
2003; 26( Supplement 2):
187.
Lewis, M. McCabe, L. L. McCabe, E. R. B. Newborn screening blood samples: a vulnerable DNA database.
American Journal of Human Genetics
2003; 63(5):
410-410.
Bhardwaj, U. Zhang, Y. H. Lorey, F. McCabe, L. L. McCabe, E. R. B. Newborn screening for beta-thalassemia: molecular genetic confirmatory testing by multiplex-ARMS.
American Journal of Human Genetics
2003; 73(5):
410-410.
Martinez, J. A. McCabe, E. R. B. Phenotypic characterization of glycerol kinase loci in Drosophila melanogaster.
American Journal of Human Genetics
2003; 73(5):
459.
Kuwada, N. Nagano, K. Kumar, M. Dipple, K. M. McCabe, E. R. B. Recombinant adenovirus mediates human glycerol kinase expression in glycerol kinase knock-out mice.
American Journal of Human Genetics
2003; 73(5):
626-626.
Stepanian, S. V. Huyn, S. T. McCabe, E. R. Dipple, K. M. Characterization of the human glycerol kinase promoter: identification of a functional HNF-4alpha binding site and evidence for transcriptional activation.
Mol Genet Metab.
2003; 80(4):
412-8.
Clipsham, R. McCabe, E. R. DAX1 and its network partners: exploring complexity in development.
Mol Genet Metab.
2003; 80(1-2):
81-120.
Bhardwaj, U. Zhang, Y. H. Jackson, D. S. Buchanan, G. R. Therrell, B. L., Jr. McCabe, L. L. McCabe, E. R. DNA diagnosis confirms hemoglobin deletion in newborn screen follow-up.
J Pediatr.
2003; 142(3):
346-8.
M.A. Suchard, R.E. Weiss, J.S. Sinsheimer, K.S. Dorman, M. Patel, and E.R.B. McCabe Evolutionary similarity among genes. .
Journal of the American Statistical Association
2003; 98:
653-662.
Bhardwaj, U. Zhang, Y. H. McCabe, E. R. Neonatal hemoglobinopathy screening: molecular genetic technologies.
Mol Genet Metab.
2003; 80(1-2):
129-37.
Bowling, B. D. Wilson, J. J. Bernard, P. Dinulos, M. B. Phelan, J. McCabe, E. B. Vilain, E. Dose-dependent shift from repressor to activator in a DAX-1 variant from a female with adrenal hypoplasia congenita.
American Journal of Human Genetics
2002; 71(4):
327-327.
Clipsham, R. Zhang, Y. H. Huang, B. L. McCabe, E. R. B. Genetic network identification by high density, multiplexed reversed transcriptional (HD-MRT) analysis in steroidogenic axis model cell lines.
Molecular Genetics and Metabolism.
2002; 77( 1-2):
159-178.
Ohira, R. Zhang, Y. H. Guo, W. Dipple, K. Shih, S. L. Doerr, J. Huang, B. L. Fu, L. J. Abu-Khalil, A. Geschwind, D. McCabe, E. R. B. Human ARX gene: genomic characterization and expression.
Molecular Genetics and Metabolism.
2002; 77( 1-2):
179-188.
Ohira, R. H. Dipple, K. M. McCabe, E. R. B. Human glycerol kinase (GK): Tissue-specific expression patterns of two alternatively spliced mRNAs from the Xp2l GK gene.
American Journal of Human Genetics
2002; 71(4):
331-331.
Lewis, M. H. McCabe, L. McCabe, E. R. B. Informed decision-making in newborn screening: Highly variable regulatory language.
American Journal of Human Genetics
2002; 71(4):
378-378.
Ching, S. Dewing, P. McCabe, E. R. B. Vilain, E. Isolating new genes of adrenal development.
American Journal of Human Genetics
2002; 71(4):
314-314.
Bhardwaj, U. Zhang, Y. H. McCabe, L. Blackburn, W. McCabe, E. R. B. Rapid confirmation of southeast Asian (--(SEA)) and Filipino (--(FIL)) alpha-Thalassemia genotypes from newborn screening samples.
American Journal of Human Genetics
2002; 71(4):
1098.
Clipsham, R. C. Zhang, Y. H. Huang, B. L. McCabe, E. R. B. Transcriptional network analysis for identification of optimal steroidogenic axis model cell lines.
Journal of Investigative Medicine.
2002; 50( 1):
87A.
McCabe, E. R. Editorial: Vulnerability within a robust complex system-DAX-1 mutations and steroidogenic axis development.
J Clin Endocrinol Metab.
2002; 87(1):
41-3.
Clipsham, R. Zhang, Y. H. Huang, B. L. McCabe, E. R. Genetic network identification by high density, multiplexed reversed transcriptional (HD-MRT) analysis in steroidogenic axis model cell lines.
Mol Genet Metab.
2002; 77(1-2):
159-78.
Ohira, R. Zhang, Y. H. Guo, W. Dipple, K. Shih, S. L. Doerr, J. Huang, B. L. Fu, L. J. Abu-Khalil, A. Geschwind, D. McCabe, E. R. Human ARX gene: genomic characterization and expression.
Mol Genet Metab.
2002; 77(1-2):
179-88.
McCabe, E. R. Molecular genetics of adrenal hypoplasia congenita.
Endocr Res.
2002; 28(4):
609.
McCabe, L. L. McCabe, E. R. Newborn screening as a model for population screening.
Mol Genet Metab.
2002; 75(4):
299-307.
McCabe, L. L. Therrell, B. L., Jr. McCabe, E. R. Newborn screening: rationale for a comprehensive, fully integrated public health system.
Mol Genet Metab.
2002; 77(4):
267-73.
Bhardwaj, U. Zhang, Y. H. Blackburn, W. McCabe, L. L. McCabe, E. R. Rapid confirmation of Southeast Asian and Filipino alpha-thalassemia genotypes from newborn screening specimens.
Am J Hematol.
2002; 71(1):
56-8.
McCabe, E. R. Translational genomics in medical genetics.
Genet Med.
2002; 4(6):
468-71.
Iyer, A. K. Zhang, Y. H. McCabe, E. R. DAX1 (NR0B1) and SHP (NR0B2) form homodimers individually, as well as DAX1-SHP heterodimers.
Mol Endocrinol.
2006;
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Zhang, Y. H. Huang, B. L. Eastman, K. McCabe, L. L. Maclennan, N. K. McCabe, E. R. Mouth cell collection device for newborn mice.
Mol Genet Metab.
2006;
.
Martinez Agosto, J. A. McCabe, E. R. Conserved family of glycerol kinase loci in Drosophila melanogaster.
Mol Genet Metab.
2006;
.
Niakan, K. K. Davis, E. C. Clipsham, R. C. Jiang, M. Dehart, D. B. Sulik, K. K. McCabe, E. R. Novel role for the orphan nuclear receptor Dax1 in embryogenesis, different from steroidogenesis.
Mol Genet Metab.
2006;
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Bernard, P. Ludbrook, L. Queipo, G. Dinulos, M. B. Kletter, G. B. Zhang, Y. H. Phelan, J. K. McCabe, E. R. Harley, V. R. Vilain, E. A familial missense mutation in the hinge region of DAX1 associated with late-onset AHC in a prepubertal female.
Mol Genet Metab.
2006;
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MacLennan, N. K. Rahib, L. Shin, C. Fang, Z. Horvath, S. Dean, J. Liao, J. C. McCabe, E. R. 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.
2006; 15(3):
405-15.
McCabe, L. L. McCabe, E. R. Complexity in genetic diseases: how patients inform the science by ignoring the dogma.
Am J Med Genet A.
2006; 140(2):
160-1.
Kuwada, N. Nagano, K. MacLennan, N. Havens, J. Kumar, M. Dipple, K. M. McCabe, E. R. Gene therapy for murine glycerol kinase deficiency: importance of murine ortholog.
Biochem Biophys Res Commun.
2005; 335(1):
247-55.
Ohira, R. H. Dipple, K. M. Zhang, Y. H. McCabe, E. R. Human and murine glycerol kinase: influence of exon 18 alternative splicing on function.
Biochem Biophys Res Commun.
2005; 331(1):
239-46.
Khoury, M. J. McCabe, L. L. McCabe, E. R. Population screening in the age of genomic medicine.
N Engl J Med.
2003; 348(1):
50-8.
McCabe, E. R. Hirschsprung's disease: dissecting complexity in a pathogenetic network.
Lancet.
2002; 359(9313):
1169-70.
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