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Edward RB McCabe

Research Profile

Chemicals & Drugs

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Molecular Sequence Data

Living Beings

Newborn Infant

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Physiology

Gene Deletion

Genes & Molecular Sequences

Amino Acid Sequences

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Karin R Engelhardt; Sean McGhee; Sabine Winkler; Atfa Sassi; Cristina Woellner; Gabriela Lopez-Herrera; Andrew Chen; Hong Sook Kim; Maria Garcia Lloret; Ilka Schulze; Stephan Ehl; Jens Thiel; Dietmar Pfeifer; Hendrik Veelken; Tim Niehues; Kathrin Siepermann; Sebastian Weinspach; Ismail Reisli; Sevgi Keles; Ferah Genel; Necil Kutukculer; Necil Kutuculer; Yildiz Camcioğlu; Ayper Somer; Elif Karakoc-Aydiner; Isil Barlan; Andrew Gennery; Ayse Metin; Aydan Degerliyurt; Maria C Pietrogrande; Mehdi Yeganeh; Zeina Baz; Salem Al-Tamemi; Christoph Klein; Jennifer M Puck; Steven M Holland; Edward RB McCabe; Bodo Grimbacher; Talal A Chatila
Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndrome.
James C Y Dunn; Yinting Chu; Mandy M Lam; Benjamin M Wu; James B Atkinson; Edward RB McCabe
Adrenal cortical cell transplantation.
Celia I Kaye; R Laxova; J E Livingston; Puryear Michele; M Mann; Edward RB McCabe; Bradford L Therrell
Integrating genetic services into public health--guidance for state and territorial programs from the National Newborn Screening and Genetics Resource Center (NNSGRC).

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All Publications

2009: Karin R Engelhardt; Sean McGhee; Sabine Winkler; Atfa Sassi; Cristina Woellner; Gabriela Lopez-Herrera; Andrew Chen; Hong Sook Kim; Maria Garcia Lloret; Ilka Schulze; Stephan Ehl; Jens Thiel; Dietmar Pfeifer; Hendrik Veelken; Tim Niehues; Kathrin Siepermann; Sebastian Weinspach; Ismail Reisli; Sevgi Keles; Ferah Genel; Necil Kutukculer; Necil Kutuculer; Yildiz Camcioğlu; Ayper Somer; Elif Karakoc-Aydiner; Isil Barlan; Andrew Gennery; Ayse Metin; Aydan Degerliyurt; Maria C Pietrogrande; Mehdi Yeganeh; Zeina Baz; Salem Al-Tamemi; Christoph Klein; Jennifer M Puck; Steven M Holland; Edward RB McCabe; Bodo Grimbacher; Talal A Chatila
Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndrome.
The Journal of allergy and clinical immunology 2009;124(6):1289-302.e4.
2004: James C Y Dunn; Yinting Chu; Mandy M Lam; Benjamin M Wu; James B Atkinson; Edward RB McCabe
Adrenal cortical cell transplantation.
Journal of pediatric surgery 2004;39(12):1856-8.
2001: Celia I Kaye; R Laxova; J E Livingston; Puryear Michele; M Mann; Edward RB McCabe; Bradford L Therrell
Integrating genetic services into public health--guidance for state and territorial programs from the National Newborn Screening and Genetics Resource Center (NNSGRC).
Community genetics 2001;4(3):175-96.
2000: Lucia Bartoloni; Marie Wattenhofer; Jun Kudoh; A Berry; Kazunori Shibuya; K Kawasaki; J Wang; Shuichi Asakawa; Ilana Talior; Batsheva Bonne-Tamir; Colette Rossier; Joäelle Michaud; Edward RB McCabe; Shinsei Minoshima; Nobuyoshi Shimizu; Hamish Scott; Stylianos E Antonarakis
Cloning and characterization of a putative human glycerol 3-phosphate permease gene (SLC37A1 or G3PP) on 21q22.3: mutation analysis in two candidate phenotypes, DFNB10 and a glycerol kinase deficiency.
Genomics 2000;70(2):190-200.
2000: A Gruskin; R G Williams; Edward RB McCabe; F Stein; J Strickler; RW Chesney; Holly J Mulvey; JL Simon; ER Alden
Final report of the FOPE II Pediatric Subspecialists of the Future Workgroup.
Pediatrics 2000;106(5):1224-44.
2000: M E Beatty; Y H Zhang; Edward RB McCabe; Robert D Steiner
Fructose-1,6-diphosphatase deficiency and glyceroluria: one possible etiology for GIS.
Molecular genetics and metabolism 2000;69(4):338-40.
1999: Eric Vilain; M Le Merrer; C Lecointre; F Desangles; M A Kay; P Maroteaux; Edward RB McCabe
IMAGe, a new clinical association of intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies.
The Journal of clinical endocrinology and metabolism 1999;84(12):4335-40.
1999: Edward RB McCabe; F de la Cruz; K Clapp
Workshop on fragile X: future research directions.
American journal of medical genetics 1999;85(3):317-22.
1999: K Hirschhorn; L D Fleisher; L Godmilow; R Rodney Howell; R R Lebel; Edward RB McCabe; Matthew J McGinniss; Aubrey Milunsky; M Z Pelias; R E Pyeritz; E Sujansky; B H Thompson; R E Zinberg
Duty to re-contact.
Genetics in medicine : official journal of the American College of Medical Genetics 1999;1(4):171-2.
1998: K A Coerver; S M Gray; J E Barnes; D L Armstrong; Edward RB McCabe
Developmental expression of hexokinase 1 and 3 in rats.
Histochemistry and cell biology 1998;109(1):75-86.
1996: Edward RB McCabe
Sex and the single DAX1: too little is bad, but can we have too much?
The Journal of clinical investigation 1996;98(4):881-2.
1996: Edward RB McCabe
Medical genetics.
JAMA : the journal of the American Medical Association 1996;275(23):1819-21.
1996: B L Therrell; W Harry Hannon; K A Pass; F Lorey; C Brokopp; J Eckman; M Glass; R Heidenreich; S Kinney; S Kling; G Landenburger; F J Meaney; Edward RB McCabe; SUSAN PANNY; M Schwartz; E Shapira
Guidelines for the retention, storage, and use of residual dried blood spot samples after newborn screening analysis: statement of the Council of Regional Networks for Genetic Services.
Biochemical and molecular medicine 1996;57(2):116-24.
1995: Kevin McCabe; David A Wheeler; Volker Adams; Edward RB McCabe
Comparison of human VDAC1 with streptococcal streptokinase and bovine bactericidal permeability increasing protein: role of structural information in identifying functionally significant domains.
Biochemical and molecular medicine 1995;56(2):176-9.
1995: Edward RB McCabe
Modeling Lou Gehrig's disease in the fruit fly.
Proceedings of the National Academy of Sciences of the United States of America 1995;92(19):8533-4.
1995: K C Worley; Elizabeth Lindsay; W Bailey; J Wise; Edward RB McCabe; Antonio Baldini
Rapid molecular cytogenetic analysis of X-chromosomal microdeletions: fluorescence in situ hybridization (FISH) for complex glycerol kinase deficiency.
American journal of medical genetics 1995;57(4):615-9.
1995: A Scheuerle; F Greenberg; Edward RB McCabe
Dysmorphic features in patients with complex glycerol kinase deficiency.
The Journal of pediatrics 1995;126(5 Pt 1):764-7.
1995: Maria G Vogiatzi; Sheila K Gunn; A E Scheuerle; Edward RB McCabe; Kenneth C Copeland
Adrenal crisis in the newborn: details leading to the correct diagnosis.
The Journal of clinical endocrinology and metabolism 1995;80(4):1079-82.
1995: Kevin McCabe; G Khan; Y H Zhang; Edward O Mason; Edward RB McCabe
Amplification of bacterial DNA using highly conserved sequences: automated analysis and potential for molecular triage of sepsis.
Pediatrics 1995;95(2):165-9.
1995: K C Worley; K Y King; S Chua; Edward RB McCabe; R F Smith
Identification of new members of a carbohydrate kinase-encoding gene family.
Journal of computational biology : a journal of computational molecular cell biology 1995;2(3):451-8.
1994: E Zanaria; F Muscatelli; Barbara Bardoni; T M Strom; S Guioli; W Guo; Enzo Lalli; C Moser; A P Walker; Edward RB McCabe
An unusual member of the nuclear hormone receptor superfamily responsible for X-linked adrenal hypoplasia congenita.
Nature 1994;372(6507):635-41.
1994: S M Gray; Volker Adams; Y Yamashita; S P Le; Jan Goddard-Finegold; Edward RB McCabe
Hexokinase binding in ischemic and reperfused piglet brain.
Biochemical medicine and metabolic biology 1994;53(2):145-8.
1994: Volker Adams; A Schieber; Edward RB McCabe
Hexokinase autophosphorylation: identification of a new dual specificity protein kinase.
Biochemical medicine and metabolic biology 1994;53(1):80-6.
1994: Barbara Bardoni; E Zanaria; S Guioli; Giovanna Floridia; K C Worley; G Tonini; E Ferrante; Giuseppe Chiumello; Edward RB McCabe; M Fraccaro
A dosage sensitive locus at chromosome Xp21 is involved in male to female sex reversal.
Nature genetics 1994;7(4):497-501.
1994: Edward RB McCabe
Microcompartmentation of energy metabolism at the outer mitochondrial membrane: role in diabetes mellitus and other diseases.
Journal of bioenergetics and biomembranes 1994;26(3):317-25.
1994: Y H Zhang; L L McCabe; M Wilborn; B L Therrell; Edward RB McCabe
Application of molecular genetics in public health: improved follow-up in a neonatal hemoglobinopathy screening program.
Biochemical medicine and metabolic biology 1994;52(1):27-35.
1994: Elizabeth Blachly-Dyson; A Baldini; M Litt; Edward RB McCabe; Michael Forte
Human genes encoding the voltage-dependent anion channel (VDAC) of the outer mitochondrial membrane: mapping and identification of two new isoforms.
Genomics 1994;20(1):62-7.
1994: Edward RB McCabe
DNA techniques for screening of inborn errors of metabolism.
European journal of pediatrics 1994;153(7 Suppl 1):S84-5.
1993: Edward RB McCabe
Clinical application of gene therapy: emerging opportunities and current limitations.
Biochemical medicine and metabolic biology 1993;50(3):241-53.
1993: K A Ellison; E J Roth; Edward RB McCabe; A Craig Chinault; Huda Y Zoghbi
Isolation of a yeast artificial chromosome contig spanning the X chromosomal translocation breakpoint in a patient with Rett syndrome.
American journal of medical genetics 1993;47(7):1124-34.
1993: De-Ann M Pillers; W K Seltzer; B R Powell; Peter N Ray; F Tremblay; G R La Roche; R A Lewis; Edward RB McCabe; A W Eriksson; Richard G Weleber
Negative-configuration electroretinogram in Oregon eye disease. Consistent phenotype in Xp21 deletion syndrome.
Archives of ophthalmology 1993;111(11):1558-63.
1993: D A Sylvester-Jackson; S L Page; J M White; H M McCabe; Y H Zhang; B L Therrell; Edward RB McCabe
Unbiased analysis of the frequency of beta-thalassemia point mutations in a population of African-American newborns.
Archives of pathology & laboratory medicine 1993;117(11):1110-4.
1993: Jeffrey A Towbin; J Fielding Hejtmancik; P Brink; B Gelb; X M Zhu; Jeffrey S Chamberlain; Edward RB McCabe; M Swift
X-linked dilated cardiomyopathy. Molecular genetic evidence of linkage to the Duchenne muscular dystrophy (dystrophin) gene at the Xp21 locus.
Circulation 1993;87(6):1854-65.
1993: Edward RB McCabe
Genetic metabolic disease: a paradigm for preventive health care.
Biochemical medicine and metabolic biology 1993;49(3):275-6.
1993: Elizabeth Blachly-Dyson; E B Zambronicz; W H Yu; V Adams; Edward RB McCabe; John P Adelman; Marco Colombini; Michael Forte
Cloning and functional expression in yeast of two human isoforms of the outer mitochondrial membrane channel, the voltage-dependent anion channel.
The Journal of biological chemistry 1993;268(3):1835-41.
1992: Edward RB McCabe
Lessons for newborn screening from the Armed Forces DNA Identification Laboratory.
Biochemical medicine and metabolic biology 1992;48(3):177-8.
1992: Edward RB McCabe; Jeffrey A Towbin; Ger van den Engh; Barbara J Trask
Xp21 contiguous gene syndromes: deletion quantitation with bivariate flow karyotyping allows mapping of patient breakpoints.
American journal of human genetics 1992;51(6):1277-85.
1992: B D Gelb; K C Worley; L D Griffin; Volker Adams; A Craig Chinault; Edward RB McCabe
Characterization of human genomic yeast artificial chromosome inserts containing hexokinase 1 coding information on chromosome 10.
Biochemical medicine and metabolic biology 1992;47(3):265-9.
1992: Y H Zhang; Edward RB McCabe
RNA analysis from newborn screening dried blood specimens.
Human genetics 1992;89(3):311-4.
1992: Edward RB McCabe
Applications of DNA fingerprinting in pediatric practice.
The Journal of pediatrics 1992;120(4 Pt 1):499-509.
1992: Edward RB McCabe
Role of mitochondria in oncogenesis.
Biochemical medicine and metabolic biology 1992;47(2):105-7.
1992: M Descartes; Y Huang; Y H Zhang; L L McCabe; R Gibbs; B L Therrell; Edward RB McCabe
Genotypic confirmation from the original dried blood specimens in a neonatal hemoglobinopathy screening program.
Pediatric research 1992;31(3):217-21.
1992: L D Griffin; B D Gelb; Volker Adams; Edward RB McCabe
Developmental expression of hexokinase 1 in the rat.
Biochimica et biophysica acta 1992;1129(3):309-17.
1992: Prem S Subramanian; James Versalovic; Edward RB McCabe; James R Lupski
Rapid mapping of Escherichia coli::Tn5 insertion mutations by REP-Tn5 PCR.
PCR methods and applications 1992;1(3):187-92.
1992: Yoichi Matsubara; Kuniaki Narisawa; K Tada; H Ikeda; Y Yeqi; D M Danks; A Green; Edward RB McCabe
Prevalence of K329E mutation in the medium-chain acyl-CoA dehydrogenase gene determined from Guthrie cards.
Progress in clinical and biological research 1992;375():453-62.
1992: B D Gelb; Volker Adams; Stephen N Jones; L D Griffin; G R MacGregor; Edward RB McCabe
Targeting of hexokinase 1 to liver and hepatoma mitochondria.
Proceedings of the National Academy of Sciences of the United States of America 1992;89(1):202-6.
1991: L D Griffin; B D Gelb; David A Wheeler; D Davison; Volker Adams; Edward RB McCabe
Mammalian hexokinase 1: evolutionary conservation and structure to function analysis.
Genomics 1991;11(4):1014-24.
1991: Edward RB McCabe
Utility of PCR for DNA analysis from dried blood spots on filter paper blotters.
PCR methods and applications 1991;1(2):99-106.
1991: B D Gelb; Jeffrey A Towbin; Edward RB McCabe; E Sujansky
San Luis Valley recombinant chromosome 8 and tetralogy of Fallot: a review of chromosome 8 anomalies and congenital heart disease.
American journal of medical genetics 1991;40(4):471-6.