PubRank

E R McCabe

Author PubWeight™ 114.74‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 DNA microextraction from dried blood spots on filter paper blotters: potential applications to newborn screening. Hum Genet 1987 2.90
2 Phenotypes of patients with "simple" Mendelian disorders are complex traits: thresholds, modifiers, and systems dynamics. Am J Hum Genet 2000 2.67
3 An unusual member of the nuclear hormone receptor superfamily responsible for X-linked adrenal hypoplasia congenita. Nature 1994 2.57
4 X-linked dilated cardiomyopathy. Molecular genetic evidence of linkage to the Duchenne muscular dystrophy (dystrophin) gene at the Xp21 locus. Circulation 1993 2.30
5 Molecular genetic diagnosis of sickle cell disease using dried blood specimens on blotters used for newborn screening. Hum Genet 1989 2.11
6 Duty to re-contact. Genet Med 2001 1.80
7 A dosage sensitive locus at chromosome Xp21 is involved in male to female sex reversal. Nat Genet 1994 1.78
8 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. Biochem Mol Med 1996 1.72
9 Congenital adrenal hypoplasia, myopathy, and glycerol kinase deficiency: molecular genetic evidence for deletions. Am J Hum Genet 1987 1.72
10 Prevalence of K329E mutation in medium-chain acyl-CoA dehydrogenase gene determined from Guthrie cards. Lancet 1991 1.66
11 Homotransplantation of the liver in a patient with hepatoma and hereditary tyrosinemia. J Pediatr 1978 1.53
12 Cloning and functional expression in yeast of two human isoforms of the outer mitochondrial membrane channel, the voltage-dependent anion channel. J Biol Chem 1993 1.46
13 Use of the polymerase chain reaction for physical mapping of Escherichia coli genes. J Bacteriol 1991 1.45
14 Modifier genes convert "simple" Mendelian disorders to complex traits. Mol Genet Metab 2000 1.39
15 Perinatal hypophosphatasia: tissue levels of vitamin B6 are unremarkable despite markedly increased circulating concentrations of pyridoxal-5'-phosphate. Evidence for an ectoenzyme role for tissue-nonspecific alkaline phosphatase. J Clin Invest 1988 1.37
16 Neuropsychology of early-treated phenylketonuria: specific executive function deficits. Child Dev 1990 1.31
17 Bacterial species identification after DNA amplification with a universal primer pair. Mol Genet Metab 1999 1.25
18 Porin interaction with hexokinase and glycerol kinase: metabolic microcompartmentation at the outer mitochondrial membrane. Biochem Med Metab Biol 1991 1.18
19 Targeting of hexokinase 1 to liver and hepatoma mitochondria. Proc Natl Acad Sci U S A 1992 1.17
20 Glycerol kinase deficiency with neuromuscular, skeletal, and adrenal abnormalities. Ann Neurol 1980 1.15
21 Newborn screening for phenylketonuria: predictive validity as a function of age. Pediatrics 1983 1.14
22 Nutritional deficits exist before 2 months of age in some infants with cystic fibrosis identified by screening test. J Pediatr 1984 1.13
23 RNA analysis from newborn screening dried blood specimens. Hum Genet 1992 1.12
24 Expression of DAX-1, the gene responsible for X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism, in the hypothalamic-pituitary-adrenal/gonadal axis. Biochem Mol Med 1995 1.11
25 Glycerol kinase deficiency: evidence for complexity in a single gene disorder. Hum Genet 2001 1.10
26 Overo lethal white foal syndrome: equine model of aganglionic megacolon (Hirschsprung disease). Am J Med Genet 1990 1.10
27 Neuropsychological deficits in early treated phenylketonuric children. Am J Ment Defic 1985 1.08
28 Multiple acyl-CoA dehydrogenase deficiency (glutaric aciduria type II) with transient hypersarcosinemia and sarcosinuria; possible inherited deficiency of an electron transfer flavoprotein. Pediatr Res 1980 1.07
29 Consequences of complexity within biological networks: robustness and health, or vulnerability and disease. Mol Genet Metab 2001 1.07
30 Human genes encoding the voltage-dependent anion channel (VDAC) of the outer mitochondrial membrane: mapping and identification of two new isoforms. Genomics 1994 1.06
31 IMAGe, a new clinical association of intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies. J Clin Endocrinol Metab 1999 1.05
32 Amplification of bacterial DNA using highly conserved sequences: automated analysis and potential for molecular triage of sepsis. Pediatrics 1995 1.04
33 Mammalian sex determination: from gonads to brain. Mol Genet Metab 1998 1.01
34 Genotypic confirmation from the original dried blood specimens in a neonatal hemoglobinopathy screening program. Pediatr Res 1992 1.01
35 Genomic sequence of the DAX1 gene: an orphan nuclear receptor responsible for X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism. J Clin Endocrinol Metab 1996 1.00
36 ynergy of ethanol and a natural soporific--gamma hydroxybutyrate. Science 1971 1.00
37 Zinc and copper status of treated children with phenylketonuria. JPEN J Parenter Enteral Nutr 1982 1.00
38 Mutations in NR0B1 (DAX1) and NR5A1 (SF1) responsible for adrenal hypoplasia congenita. Hum Mutat 2001 1.00
39 Weaver syndrome: the changing phenotype in an adult. Am J Med Genet 1989 0.99
40 DAX1 mutations map to putative structural domains in a deduced three-dimensional model. Am J Hum Genet 1998 0.99
41 1,4-Butanediol--a substrate for rat liver and horse liver alcohol dehydrogenases. Biochem Pharmacol 1972 0.99
42 Mammalian hexokinase 1: evolutionary conservation and structure to function analysis. Genomics 1991 0.97
43 Nr0b1 and its network partners are expressed early in murine embryos prior to steroidogenic axis organogenesis. Gene Expr Patterns 2004 0.96
44 Glutaric acidemia type II: clinical, biochemical, and morphologic considerations. J Pediatr 1982 0.95
45 Postgenomic medicine. Presymptomatic testing for prediction and prevention. Clin Perinatol 2001 0.95
46 Human glycerol kinase deficiency with hyperglycerolemia and glyceroluria. Biochem Biophys Res Commun 1977 0.95
47 Separation and automated analysis of phosphorylated metabolic intermediates. Anal Biochem 1974 0.95
48 Glutaric acidemia: a metabolic disorder causing progressive choreoathetosis. Neurology 1980 0.95
49 Rapid mapping of Escherichia coli::Tn5 insertion mutations by REP-Tn5 PCR. PCR Methods Appl 1992 0.94
50 Integrating genetic services into public health--guidance for state and territorial programs from the National Newborn Screening and Genetics Resource Center (NNSGRC). Community Genet 2001 0.94
51 Phenotypic features of patients with congenital adrenal hypoplasia and glycerol kinase deficiency. Am J Dis Child 1987 0.94
52 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 0.94
53 Dysmorphic features in patients with complex glycerol kinase deficiency. J Pediatr 1995 0.93
54 DAX1 gene expression upregulated by steroidogenic factor 1 in an adrenocortical carcinoma cell line. Biochem Mol Med 1997 0.92
55 San Luis Valley recombinant chromosome 8 and tetralogy of Fallot: a review of chromosome 8 anomalies and congenital heart disease. Am J Med Genet 1991 0.91
56 Screening for cystic fibrosis: feasibility of molecular genetic analysis of dried blood specimens. Biochem Med Metab Biol 1991 0.90
57 Identification of a putative steroidogenic factor-1 response element in the DAX-1 promoter. Biochem Biophys Res Commun 1995 0.90
58 Pancytopenia in propionic acidemia: hematologic evaluation and studies of hematopoiesis in vitro. Pediatr Res 1986 0.90
59 AluY insertion (IVS4-52ins316alu) in the glycerol kinase gene from an individual with benign glycerol kinase deficiency. Hum Mutat 2000 0.90
60 Screening for PKU in sick or premature neonates. J Pediatr 1983 0.90
61 The gene responsible for adrenal hypoplasia congenita, DAX-1, encodes a nuclear hormone receptor that defines a new class within the superfamily. Recent Prog Horm Res 1996 0.88
62 Infectious and bleeding complications in patients with glycogenosis Ib. Am J Dis Child 1985 0.88
63 Application of molecular genetics in public health: improved follow-up in a neonatal hemoglobinopathy screening program. Biochem Med Metab Biol 1994 0.87
64 Unbiased analysis of the frequency of beta-thalassemia point mutations in a population of African-American newborns. Arch Pathol Lab Med 1993 0.87
65 Mutational analysis of the Escherichia coli glpFK region with Tn5 mutagenesis and the polymerase chain reaction. J Bacteriol 1990 0.87
66 Human glycerol kinase deficiency: an inborn error of compartmental metabolism. Biochem Med 1983 0.87
67 Infantile glycerol kinase deficiency--a condition requiring prompt identification. Clinical, biochemical, and morphological findings in two cases. Eur J Pediatr 1987 0.86
68 Deletion mapping of Aland Island eye disease to Xp21 between DXS67 (B24) and Duchenne muscular dystrophy. Am J Hum Genet 1990 0.86
69 Teratogenic effects of first-trimester cyclophosphamide therapy. Obstet Gynecol 1988 0.85
70 1-Thioglycerol: inhibitor of glycerol kinase activity in vitro and in situ. Life Sci 1986 0.84
71 Negative-configuration electroretinogram in Oregon eye disease. Consistent phenotype in Xp21 deletion syndrome. Arch Ophthalmol 1993 0.84
72 Muscle glycerol kinase in Duchenne dystrophy and glycerol kinase deficiency. Muscle Nerve 1989 0.84
73 Expression of hexokinase 1 and hexokinase 2 in mammary tissue of nonlactating and lactating rats: evaluation by RT-PCR. Mol Genet Metab 1999 0.83
74 Congenital adrenal hypoplasia and selective absence of pituitary luteinizing hormone: a new autosomal recessive syndrome. Am J Med Genet 1988 0.83
75 Characterization of patients with glycerol kinase deficiency utilizing cDNA probes for the Duchenne muscular dystrophy locus. Hum Genet 1989 0.83
76 Adrenal dysfunction in glycerol kinase deficiency. Biochem Med 1985 0.83
77 Concordance of X-linked glycerol kinase deficiency with X-linked congenital adrenal hypoplasia. Lancet 1982 0.83
78 Primate DAX1, SRY, and SOX9: evolutionary stratification of sex-determination pathway. Am J Hum Genet 2000 0.82
79 Final report of the FOPE II Pediatric Subspecialists of the Future Workgroup. Pediatrics 2000 0.82
80 Recurrent Reye's syndrome. Am J Dis Child 1978 0.82
81 Transient organic aciduria and methemoglobinemia with acute gastroenteritis. Pediatrics 1990 0.82
82 DNA from Guthrie spots for diagnosis of DMD by multiplex PCR. Biochem Med Metab Biol 1990 0.82
83 Isolation of a yeast artificial chromosome contig spanning the X chromosomal translocation breakpoint in a patient with Rett syndrome. Am J Med Genet 1993 0.81
84 Single-tube gene-specific expression analysis by high primer density multiplex reverse transcription. Mol Genet Metab 2001 0.81
85 Demonstration and characterization of human cardiac porin: a voltage-dependent channel involved in adenine nucleotide movement across the outer mitochondrial membrane. Biochem Med Metab Biol 1989 0.81
86 Loosely coupled mitochondrial oxidative phosphorylation induced by protoporphyrin. Biochem Med 1979 0.81
87 Development of enzymes of glycerol metabolism in human fetal liver. Biol Neonate 1987 0.81
88 Ahch, the mouse homologue of DAX1: cloning, characterization and synteny with GyK, the glycerol kinase locus. Gene 1996 0.81
89 Synthesis and characterization of a bovine hexokinase 1 cDNA probe by mixed oligonucleotide primed amplification of cDNA using high complexity primer mixtures. Biochem Med Metab Biol 1989 0.80
90 A juvenile form of glycerol kinase deficiency with episodic vomiting, acidemia, and stupor. J Pediatr 1984 0.80
91 The management of breast feeding among infants with phenylketonuria. J Inherit Metab Dis 1989 0.80
92 DXS28 (C7) maps centromeric to DXS68 (L1-4) and DXS67 (B24) by deletion analysis. Genomics 1990 0.80
93 Screening for phenylketonuria. N Engl J Med 1981 0.80
94 Identification of new members of a carbohydrate kinase-encoding gene family. J Comput Biol 1995 0.79
95 Developmental expression of hexokinase 1 in the rat. Biochim Biophys Acta 1992 0.79
96 Isodicentric X chromosome in a patient with Turner syndrome--implications for localization of the X-inactivation center. Hum Genet 1991 0.79
97 Subcellular distribution and kinetic properties of soluble and particulate-associated bovine adrenal glycerol kinase. Mol Cell Biochem 1984 0.79
98 Zinc status and growth of children undergoing treatment for phenylketonuria. J Inherit Metab Dis 1982 0.79
99 Nine novel mutations in NR0B1 (DAX1) causing adrenal hypoplasia congenita. Hum Mutat 2001 0.79
100 Human glycerol kinase deficiency: enzyme kinetics and fibroblast hybridization. J Inherit Metab Dis 1982 0.79
101 Carrier screening for phenylketonuria: comparison of two discriminant analysis procedures. Am J Hum Genet 1984 0.78
102 Protein kinase activity of rat brain hexokinase. Biochem Biophys Res Commun 1991 0.78
103 Glycerol kinase deficiency: compartmental considerations regarding pathogenesis and clinical heterogeneity. Adv Exp Med Biol 1986 0.77
104 Rapid detection of beta s DNA from Guthrie cards by chromogenic probes. Lancet 1989 0.77
105 Human and rat adrenal glycerol kinase: subcellular distribution and bisubstrate kinetics. Mol Cell Biochem 1984 0.77
106 Sex and the single DAX1: too little is bad, but can we have too much? J Clin Invest 1996 0.77
107 Hexokinase autophosphorylation: identification of a new dual specificity protein kinase. Biochem Med Metab Biol 1994 0.77
108 Minipuberty of infancy and adolescent pubertal function in adrenal hypoplasia congenita. J Pediatr 1998 0.76
109 Methylmalonic/beta-hydroxy-n-valeric aciduria due to methylmalonyl-CoA mutase deficiency. Clin Chim Acta 1978 0.76
110 Biochemical and nutritional status of children with hyperphenylalaninaemia. J Inherit Metab Dis 1988 0.76
111 Pitfalls in diagnosing galactosemia: false negative newborn screening following red blood cell transfusion. J Pediatr Gastroenterol Nutr 1989 0.76
112 Blood phenylalanine estimation for the patient with phenylketonuria using a portable device. Biochem Med Metab Biol 1988 0.76
113 Adrenal crisis in the newborn: details leading to the correct diagnosis. J Clin Endocrinol Metab 1995 0.75
114 Rapid molecular cytogenetic analysis of X-chromosomal microdeletions: fluorescence in situ hybridization (FISH) for complex glycerol kinase deficiency. Am J Med Genet 1995 0.75
115 Developmental expression of hexokinase 1 and 3 in rats. Histochem Cell Biol 1998 0.75
116 Lessons for newborn screening from the Armed Forces DNA Identification Laboratory. Biochem Med Metab Biol 1992 0.75
117 Implementation of DNA technology. Yale J Biol Med 1991 0.75
118 Human glycerol kinase: comparison of properties from fibroblasts and liver. Life Sci 1983 0.75
119 Prevalence of K329E mutation in the medium-chain acyl-CoA dehydrogenase gene determined from Guthrie cards. Prog Clin Biol Res 1992 0.75
120 Lack of effect of lithium carbonate in patients with glycogenosis Ib. Am J Dis Child 1987 0.75
121 Hexokinase binding in ischemic and reperfused piglet brain. Biochem Med Metab Biol 1994 0.75
122 Dissociation of learning on stimulant-drug therapy. N Engl J Med 1972 0.75
123 Characterization of human genomic yeast artificial chromosome inserts containing hexokinase 1 coding information on chromosome 10. Biochem Med Metab Biol 1992 0.75
124 The use of insulin pump therapy in adolescents. Pediatrician 1986 0.75
125 Galactosaemia with fatal cerebral oedema. J Inherit Metab Dis 1989 0.75
126 Population studies of allele frequencies in single gene disorders: methodological and policy considerations. Epidemiol Rev 1997 0.75
127 Glutaric, 3-hydroxypropionic, and lactic aciduria with metabolic acidemia, following extensive small bowel resection. Biochem Med 1982 0.75
128 Enzyme product blot for nondestructive assay of protein catalytic function in polyacrylamide gels. Anal Biochem 1989 0.75
129 Identification of a ferritin light chain pseudogene near the glycerol kinase locus in Xp21 by cDNA amplification for identification of genomic expressed sequences. Biochem Mol Med 1997 0.75
130 Measurement of adenosine triphosphate and 2,3-diphosphoglycerate in stored blood with 31P nuclear magnetic resonance spectroscopy. Biochem Med Metab Biol 1986 0.75
131 Neonatal hyperammonemia. Pediatrics 1980 0.75
132 Neutropenia in a patient with type IB glycogen storage disease: in vitro response to lithium chloride. J Pediatr 1980 0.75
133 Role of mitochondria in oncogenesis. Biochem Med Metab Biol 1992 0.75
134 Needs assessment for genetic services in Texas. Birth Defects Orig Artic Ser 1990 0.75
135 Reverse transcriptase in a patient with scleroderma. Biochem Med 1979 0.75
136 A tool for quick and easy data collection. MCN Am J Matern Child Nurs 1985 0.75
137 Fructose-1,6-diphosphatase deficiency and glyceroluria: one possible etiology for GIS. Mol Genet Metab 2000 0.75
138 Midkine is expressed early in rat fetal adrenal development. Mol Genet Metab 2000 0.75
139 Newborn screening for inherited metabolic disease: principles and practice. Neonatal Netw 1988 0.75
140 Comparison of human VDAC1 with streptococcal streptokinase and bovine bactericidal permeability increasing protein: role of structural information in identifying functionally significant domains. Biochem Mol Med 1995 0.75
141 Molecular genetic diagnosis of infectious diseases. Pediatr Ann 1997 0.75
142 A study of medical costs associated with selected genetic disorders in Texas. Birth Defects Orig Artic Ser 1990 0.75
143 Issues in the dietary management of phenylketonuria: breast-feeding and trace-metal nutriture. Ann N Y Acad Sci 1986 0.75
144 Genetic metabolic disease: a paradigm for preventive health care. Biochem Med Metab Biol 1993 0.75