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Edward McCabe

This is a preview profile on BiomedExperts - the first literature-based scientific social network. It brings the right researchers together and allows them to collaborate online. Collexis and Dell provide the BiomedExperts network of +1.5 Million pre-calculated profiles free of charge to researchers worldwide.

Research Profile (preview)

Chemicals & Drugs

Procedures

Living Beings

Concepts & Ideas

Molecular Sequence Data

Physiology

Mutation

Disorders

Genes & Molecular Sequences

Amino Acid Sequence

Anatomy

X Chromosome

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Co-Publications
Name
25
Zhang, Yao-Hua
17
McCabe, Linda
15
Huang, Bing-Ling
14
Dipple, Katrina
7
Vilain, Eric
6
thomas, Burris
6
Bhardwaj, Urvashi
5
Clipsham, Robert
5
Phelan, James
4
Niakan, Kathy
4
MacLennan, Nicole
3
Liao, Joseph
3
McGhee, Sean
3
Churchill, Bernard
3
Mastali, Mitra

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Publications

TOP 3
MacLennan Nicole K; Dong Jun; Aten Jason E; Horvath Steve; Rahib Lola; Ornelas Loren; Dipple Katrina M; McCabe Edward R B
Weighted gene co-expression network analysis identifies biomarkers in glycerol kinase deficient mice.
McCabe Edward R B
Mining the x-chromosome for disease genes by deep resequencing.
McCabe Linda L; McCabe Edward R B
Newborn screening as a system from birth through lifelong care.

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All Publications

2009: MacLennan Nicole K; Dong Jun; Aten Jason E; Horvath Steve; Rahib Lola; Ornelas Loren; Dipple Katrina M; McCabe Edward R B
Weighted gene co-expression network analysis identifies biomarkers in glycerol kinase deficient mice.
Molecular genetics and metabolism 2009;98(1-2):203-14.
2009: McCabe Edward R B
Mining the x-chromosome for disease genes by deep resequencing.
Pediatric research 2009;66(1):2.
2009: McCabe Linda L; McCabe Edward R B
Newborn screening as a system from birth through lifelong care.
Genetics in medicine : official journal of the American College of Medical Genetics 2009;11(6):409-10.
2008: Watson Michael S; Epstein Charles; Howell R Rodney; Jones Marilyn C; Korf Bruce R; McCabe Edward R B; Simpson Joe Leigh
Developing a national collaborative study system for rare genetic diseases.
Genetics in medicine : official journal of the American College of Medical Genetics 2008;10(5):325-9.
2008: Stanczak Christopher M; Chen Zugen; Nelson Stanley F; Suchard Marc; McCabe Edward R B; McGhee Sean
Representational oligonucleotide microarray analysis (ROMA) and comparison of binning and change-point methods of analysis: application to detection of del22q11.2 (DiGeorge) syndrome.
Human mutation 2008;29(1):176-81.
2008: McCabe Linda L; McCabe Edward R B
Expanded newborn screening: implications for genomic medicine.
Annual review of medicine 2008;59():163-75.
2007: McCabe Edward R B
American Pediatric Society presidential address 2007: Robust complex networks in health, disease and international pediatric research.
Pediatric research 2007;62(3):374-9.
2007: Iyer Anita K; Zhang Yao-Hua; McCabe Edward R B
LXXLL motifs and AF-2 domain mediate SHP (NR0B2) homodimerization and DAX1 (NR0B1)-DAX1A heterodimerization.
Molecular genetics and metabolism 2007;92(1-2):151-9.
2007: Liao Joseph C; Mastali Mitra; Li Yang; Gau Vincent; Suchard Marc A; Babbitt Jane; Gornbein Jeffrey; Landaw Elliot M; McCabe Edward R B; Churchill Bernard M; Haake David A
Development of an advanced electrochemical DNA biosensor for bacterial pathogen detection.
The Journal of molecular diagnostics : JMD 2007;9(2):158-68.
2007: Stanczak Christopher M; Chen Zugen; Zhang Yao-Hua; Nelson Stanley F; McCabe Edward R B
Deletion mapping in Xp21 for patients with complex glycerol kinase deficiency using SNP mapping arrays.
Human mutation 2007;28(3):235-42.
2007: McCabe Edward R B
DAX1: Increasing complexity in the roles of this novel nuclear receptor.
Molecular and cellular endocrinology 2007;265-266():179-82.
2006: Moore Theodore B; McCabe Edward R B
National collaborative study groups: structure, benefits gained and potential for rare genetic diseases.
Genetics in medicine : official journal of the American College of Medical Genetics 2006;8(12):793-6.
2006: Chu Yinting; Wu Benjamin M; McCabe Edward R; Dunn James C Y
Serum-free cultures of murine adrenal cortical cells.
Journal of pediatric surgery 2006;41(12):2008-12.
2006: Zhao Y; Yang Z; Phelan J K; Wheeler D A; Lin S; McCabe E R B
Zebrafish dax1 is required for development of the interrenal organ, the adrenal cortex equivalent.
Molecular endocrinology (Baltimore, Md.) 2006;20(11):2630-40.
2006: Iyer Anita K; Zhang Yao-Hua; McCabe Edward R B
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.
Molecular endocrinology (Baltimore, Md.) 2006;20(10):2326-42.
2006: McGhee Sean A; McCabe Edward R B
Genome-wide testing: genomic medicine: commentary on the article by Bar-Shira et al. on page 353.
Pediatric research 2006;60(3):243-4.
2006: Bhardwaj Urvashi; Zhang Y-H; Rangwala Zakir; McCabe E R B
Completely self-contained cell culture system: from storage to use.
Molecular genetics and metabolism 2006;89(1-2):168-73.
2006: 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):164-7.
2006: Martinez Agosto Julian A; McCabe Edward R B
Conserved family of glycerol kinase loci in Drosophila melanogaster.
Molecular genetics and metabolism 2006;88(4):334-45.
2006: Niakan Kathy K; Davis Emily C; Clipsham Robert C; Jiang Meisheng; Dehart Deborah B; Sulik Kathleen K; McCabe Edward R B
Novel role for the orphan nuclear receptor Dax1 in embryogenesis, different from steroidogenesis.
Molecular genetics and metabolism 2006;88(3):261-71.
2006: Bernard Pascal; Ludbrook Louisa; Queipo Gloria; Dinulos Mary-Beth; Kletter Gad B; Zhang Yao-Hua; Phelan James K; McCabe Edward R B; Harley Vincent R; Vilain Eric
A familial missense mutation in the hinge region of DAX1 associated with late-onset AHC in a prepubertal female.
Molecular genetics and metabolism 2006;88(3):272-9.
2006: Hutz Janna E; Krause Andrea S; Achermann John C; Vilain Eric; Tauber Maïthé; Lecointre Claudine; McCabe Edward R B; Hammer Gary D; Keegan Catherine E
IMAGe association and congenital adrenal hypoplasia: no disease-causing mutations found in the ACD gene.
Molecular genetics and metabolism 2006;88(1):66-70.
2006: Zhang Yao-Hua; Huang Bing-Ling; Jialal Ishwarlal; Northrup Hope; McCabe Edward R B; Dipple Katrina M
Asymptomatic isolated human glycerol kinase deficiency associated with splice-site mutations and nonsense-mediated decay of mutant RNA.
Pediatric research 2006;59(4 Pt 1):590-2.
2006: Liao Joseph C; Mastali Mitra; Gau Vincent; Suchard Marc A; Møller Annette K; Bruckner David A; Babbitt Jane T; Li Yang; Gornbein Jeffrey; Landaw Elliot M; McCabe Edward R B; Churchill Bernard M; Haake David A
Use of electrochemical DNA biosensors for rapid molecular identification of uropathogens in clinical urine specimens.
Journal of clinical microbiology 2006;44(2):561-70.
2006: MacLennan Nicole K; Rahib Lola; Shin Cynthia; Fang Zixing; Horvath Steve; Dean Jason; Liao James C; McCabe Edward R B; Dipple Katrina M
Targeted disruption of glycerol kinase gene in mice: expression analysis in liver shows alterations in network partners related to glycerol kinase activity.
Human molecular genetics 2006;15(3):405-15.
2006: McCabe Linda L; McCabe Edward R B
Complexity in genetic diseases: how patients inform the science by ignoring the dogma.
American journal of medical genetics. Part A 2006;140(2):160-1.
2005: McGhee Sean A; Stiehm E Richard; Cowan Morton; Krogstad Paul; McCabe Edward R B
Two-tiered universal newborn screening strategy for severe combined immunodeficiency.
Molecular genetics and metabolism 2005;86(4):427-30.
2005: McGhee Sean A; Stiehm E Richard; McCabe Edward R B
Potential costs and benefits of newborn screening for severe combined immunodeficiency.
The Journal of pediatrics 2005;147(5):603-8.
2005: Niakan K K; McCabe E R B
DAX1 origin, function, and novel role.
Molecular genetics and metabolism 2005;86(1-2):70-83.
2005: Kuwada N; Nagano K; MacLennan N; Havens J; Kumar M; Dipple K M; McCabe E R B
Gene therapy for murine glycerol kinase deficiency: importance of murine ortholog.
Biochemical and biophysical research communications 2005;335(1):247-55.
2005: Sriram Ganesh; Martinez Julian A; McCabe Edward R B; Liao James C; Dipple Katrina M
Single-gene disorders: what role could moonlighting enzymes play?
American journal of human genetics 2005;76(6):911-24.
2005: Ohira Riki H; Dipple Katrina M; Zhang Yao-Hua; McCabe Edward R B
Human and murine glycerol kinase: influence of exon 18 alternative splicing on function.
Biochemical and biophysical research communications 2005;331(1):239-46.
2005: Bhardwaj Urvashi; Zhang Yao-Hua; Lorey Fred; McCabe Linda L; McCabe Edward R B
Molecular genetic confirmatory testing from newborn screening samples for the common African-American, Asian Indian, Southeast Asian, and Chinese beta-thalassemia mutations.
American journal of hematology 2005;78(4):249-55.
2005: Sun Chien-Pin; Liao Joseph C; Zhang Yao-Hua; Gau Vincent; Mastali Mitra; Babbitt Jane T; Grundfest Warren S; Churchill Bernard M; McCabe Edward R B; Haake David A
Rapid, species-specific detection of uropathogen 16S rDNA and rRNA at ambient temperature by dot-blot hybridization and an electrochemical sensor array.
Molecular genetics and metabolism 2005;84(1):90-9.
2005: Bhardwaj Urvashi; McCabe Edward R B
Multiplex-PCR assay for the deletions causing hereditary persistence of fetal hemoglobin.
Molecular diagnosis : a journal devoted to the understanding of human disease through the clinical application of molecular biology 2005;9(3):151-6.
2004: Ho John; Zhang Yao-Hua; Huang Bing-Ling; McCabe Edward R B
NR0B1A: an alternatively spliced form of NR0B1.
Molecular genetics and metabolism 2004;83(4):330-6.
2004: Iyer Anita K; McCabe Edward R B
Molecular mechanisms of DAX1 action.
Molecular genetics and metabolism 2004;83(1-2):60-73.
2004: Zhang Yao-Hua; Huang Bing-Ling; Niakan Kathy K; McCabe Linda L; McCabe Edward R B; Dipple Katrina M
IL1RAPL1 is associated with mental retardation in patients with complex glycerol kinase deficiency who have deletions extending telomeric of DAX1.
Human mutation 2004;24(3):273.
2004: McCabe Linda L; McCabe Edward R B
Direct-to-consumer genetic testing: access and marketing.
Genetics in medicine : official journal of the American College of Medical Genetics 2004;6(1):58-9.
2004: Clipsham R; Niakan K; McCabe E R
Nr0b1 and its network partners are expressed early in murine embryos prior to steroidogenic axis organogenesis.
Gene expression patterns : GEP 2004;4(1):3-14.
2004: McCabe Linda L; McCabe Edward R B
Genetic screening: carriers and affected individuals.
Annual review of genomics and human genetics 2004;5():57-69.
2003: Stepanian Sevan V; Huyn Steven T; McCabe Edward R B; Dipple Katrina M
Characterization of the human glycerol kinase promoter: identification of a functional HNF-4alpha binding site and evidence for transcriptional activation.
Molecular genetics and metabolism 2003;80(4):412-8.
2003: Bhardwaj Urvashi; Zhang Yao-Hua; McCabe Edward R B
Neonatal hemoglobinopathy screening: molecular genetic technologies.
Molecular genetics and metabolism 2003;80(1-2):129-37.
2003: Clipsham Robert; McCabe Edward R B
DAX1 and its network partners: exploring complexity in development.
Molecular genetics and metabolism 2003;80(1-2):81-120.
2003: Bhardwaj Urvashi; Zhang Yao-Hua; Jackson Desirée S; Buchanan George R; Therrell Bradford L; McCabe Linda L; McCabe Edward R b
DNA diagnosis confirms hemoglobin deletion in newborn screen follow-up.
The Journal of pediatrics 2003;142(3):346-8.
2003: Khoury Muin J; McCabe Linda L; McCabe Edward R B
Population screening in the age of genomic medicine.
The New England journal of medicine 2003;348(1):50-8.
2002: McCabe Linda L; Therrell Bradford L; McCabe Edward R B
Newborn screening: rationale for a comprehensive, fully integrated public health system.
Molecular genetics and metabolism 2002;77(4):267-73.
2002: McCabe Edward R B
Molecular genetics of adrenal hypoplasia congenita.
Endocrine research 2002;28(4):609.
2002: McCabe Edward R B
Translational genomics in medical genetics.
Genetics in medicine : official journal of the American College of Medical Genetics 2002;4(6):468-71.
2002: 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):179-88.
2002: 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):159-78.
2002: Bhardwaj Urvashi; Zhang Yao-Hua; Blackburn William; McCabe Linda L; McCabe Edward R B
Rapid confirmation of Southeast Asian and Filipino alpha-thalassemia genotypes from newborn screening specimens.
American journal of hematology 2002;71(1):56-8.
2002: McCabe Linda L; McCabe Edward R B
Newborn screening as a model for population screening.
Molecular genetics and metabolism 2002;75(4):299-307.
2002: McCabe Edward R B
Hirschsprung's disease: dissecting complexity in a pathogenetic network.
Lancet 2002;359(9313):1169-70.
2002: McCabe Edward R B
Editorial: Vulnerability within a robust complex system-DAX-1 mutations and steroidogenic axis development.
The Journal of clinical endocrinology and metabolism 2002;87(1):41-3.
2001: Clipsham R C; McCabe E R
Single-tube gene-specific expression analysis by high primer density multiplex reverse transcription.
Molecular genetics and metabolism 2001;74(4):435-48.
2001: Zhang Y H; Huang B L; Anyane-Yeboa K; Carvalho J A; Clemons R D; Cole T; De Figueiredo B C; Lubinsky M; Metzger D L; Quadrelli R; Repaske D R; Reyno S; Seaver L H; Vaglio A; Van Vliet G; McCabe L L; McCabe E R; Phelan J K
Nine novel mutations in NR0B1 (DAX1) causing adrenal hypoplasia congenita.
Human mutation 2001;18(6):547.
2001: Phelan J K; McCabe E R
Mutations in NR0B1 (DAX1) and NR5A1 (SF1) responsible for adrenal hypoplasia congenita.
Human mutation 2001;18(6):472-87.
2001: McCabe E R
Clinical genetics: compassion, access, science, and advocacy.
Genetics in medicine : official journal of the American College of Medical Genetics 2001;3(6):426-9.
2001: Dipple K M; Phelan J K; McCabe E R
Consequences of complexity within biological networks: robustness and health, or vulnerability and disease.
Molecular genetics and metabolism 2001;74(1-2):45-50.
2001: Dipple K M; Zhang Y H; Huang B L; McCabe L L; Dallongeville J; Inokuchi T; Kimura M; Marx H J; Roederer G O; Shih V; Yamaguchi S; Yoshida I; McCabe E R
Glycerol kinase deficiency: evidence for complexity in a single gene disorder.
Human genetics 2001;109(1):55-62.
2001: McCabe L L; McCabe E R
Postgenomic medicine. Presymptomatic testing for prediction and prevention.
Clinics in perinatology 2001;28(2):425-34.
2001: Patel M; Dorman K S; Zhang Y H; Huang B L; Arnold A P; Sinsheimer J S; Vilain E; McCabe E R
Primate DAX1, SRY, and SOX9: evolutionary stratification of sex-determination pathway.
American journal of human genetics 2001;68(1):275-80.
2000: Dewing P; Ching S T; Zhang Y H; Huang B L; Peirce R M; McCabe E R; Vilain E
Midkine is expressed early in rat fetal adrenal development.
Molecular genetics and metabolism 2000;71(4):616-22.
2000: Dipple K M; McCabe E R
Modifier genes convert "simple" Mendelian disorders to complex traits.
Molecular genetics and metabolism 2000;71(1-2):43-50.
2000: Dipple K M; McCabe E R
Phenotypes of patients with "simple" Mendelian disorders are complex traits: thresholds, modifiers, and systems dynamics.
American journal of human genetics 2000;66(6):1729-35.
2000: Zhang Y; Dipple K M; Vilain E; Huang B L; Finlayson G; Therrell B L; Worley K; Deininger P; McCabe E R
AluY insertion (IVS4-52ins316alu) in the glycerol kinase gene from an individual with benign glycerol kinase deficiency.
Human mutation 2000;15(4):316-23.
1999: McCabe E R; McCabe L L
State-of-the-art for DNA technology in newborn screening.
Acta paediatrica (Oslo, Norway : 1992). Supplement 1999;88(432):58-60.
1999: Kaselonis G L; McCabe E R; Gray S M
Expression of hexokinase 1 and hexokinase 2 in mammary tissue of nonlactating and lactating rats: evaluation by RT-PCR.
Molecular genetics and metabolism 1999;68(3):371-4.
1999: McCabe K M; Zhang Y H; Huang B L; Wagar E A; McCabe E R
Bacterial species identification after DNA amplification with a universal primer pair.
Molecular genetics and metabolism 1999;66(3):205-11.
1998: Vilain E; McCabe E R
Mammalian sex determination: from gonads to brain.
Molecular genetics and metabolism 1998;65(2):74-84.
1998: Kaiserman K B; Nakamoto J M; Geffner M E; McCabe E R
Minipuberty of infancy and adolescent pubertal function in adrenal hypoplasia congenita.
The Journal of pediatrics 1998;133(2):300-2.
1998: Zhang Y H; Guo W; Wagner R L; Huang B L; McCabe L; Vilain E; Burris T P; Anyane-Yeboa K; Burghes A H; Chitayat D; Chudley A E; Genel M; Gertner J M; Klingensmith G J; Levine S N; Nakamoto J; New M I; Pagon R A; Pappas J G; Quigley C A; Rosenthal I M; Baxter J D; Fletterick R J; McCabe E R
DAX1 mutations map to putative structural domains in a deduced three-dimensional model.
American journal of human genetics 1998;62(4):855-64.
1997: McCabe K M; McCabe E R
Molecular genetic diagnosis of infectious diseases.
Pediatric annals 1997;26(9):547-52.
1997: McCabe E R
Molecular pediatrics: fundamental changes in our approaches to child health.
Pediatric annals 1997;26(9):520-2.
1997: Vilain E; Guo W; Zhang Y H; McCabe E R
DAX1 gene expression upregulated by steroidogenic factor 1 in an adrenocortical carcinoma cell line.
Biochemical and molecular medicine 1997;61(1):1-8.
1997: Guo W; Adams V; Mason J; McCabe E R
Identification of a ferritin light chain pseudogene near the glycerol kinase locus in Xp21 by cDNA amplification for identification of genomic expressed sequences.
Biochemical and molecular medicine 1997;60(2):169-73.
1997: McCabe L L; McCabe E R
Population studies of allele frequencies in single gene disorders: methodological and policy considerations.
Epidemiologic reviews 1997;19(1):52-60.
1996: Guo W; Lovell R S; Zhang Y H; Huang B L; Burris T P; Craigen W J; McCabe E R
Ahch, the mouse homologue of DAX1: cloning, characterization and synteny with GyK, the glycerol kinase locus.
Gene 1996;178(1-2):31-4.
1996: Guo W; Burris T P; Zhang Y H; Huang B L; Mason J; Copeland K C; Kupfer S R; Pagon R A; McCabe E R
Genomic sequence of the DAX1 gene: an orphan nuclear receptor responsible for X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism.
The Journal of clinical endocrinology and metabolism 1996;81(7):2481-6.
1996: Burris T P; Guo W; McCabe E R
The gene responsible for adrenal hypoplasia congenita, DAX-1, encodes a nuclear hormone receptor that defines a new class within the superfamily.
Recent progress in hormone research 1996;51():241-59; discussion 259-60.
1995: Guo W; Burris T P; McCabe E R
Expression of DAX-1, the gene responsible for X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism, in the hypothalamic-pituitary-adrenal/gonadal axis.
Biochemical and molecular medicine 1995;56(1):8-13.
1995: Burris T P; Guo W; Le T; McCabe E R
Identification of a putative steroidogenic factor-1 response element in the DAX-1 promoter.
Biochemical and biophysical research communications 1995;214(2):576-81.

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