PubRank

E I Ginns

Author PubWeight™ 90.14‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Re-evaluation of the linkage relationship between chromosome 11p loci and the gene for bipolar affective disorder in the Old Order Amish. Nature 1989 4.18
2 Mice that lack thrombospondin 2 display connective tissue abnormalities that are associated with disordered collagen fibrillogenesis, an increased vascular density, and a bleeding diathesis. J Cell Biol 1998 3.27
3 A mutation in the human glucocerebrosidase gene in neuronopathic Gaucher's disease. N Engl J Med 1987 2.77
4 Genetic heterogeneity in type 1 Gaucher disease: multiple genotypes in Ashkenazic and non-Ashkenazic individuals. Proc Natl Acad Sci U S A 1988 2.10
5 Identification of three additional genes contiguous to the glucocerebrosidase locus on chromosome 1q21: implications for Gaucher disease. Genome Res 1997 2.06
6 The structure and expression of the human neuroligin-3 gene. Gene 2000 1.98
7 Vasopressin V1b receptor knockout reduces aggressive behavior in male mice. Mol Psychiatry 2002 1.89
8 DNA mutation analysis of Gaucher patients. Am J Med Genet 1992 1.80
9 Mutations of glucocerebrosidase: discrimination of neurologic and non-neurologic phenotypes of Gaucher disease. Proc Natl Acad Sci U S A 1982 1.64
10 Deficiency in mouse oxytocin prevents milk ejection, but not fertility or parturition. J Neuroendocrinol 1996 1.62
11 Consequences of beta-glucocerebrosidase deficiency in epidermis. Ultrastructure and permeability barrier alterations in Gaucher disease. J Clin Invest 1994 1.58
12 Isolation of cDNA clones for human beta-glucocerebrosidase using the lambda gt11 expression system. Biochem Biophys Res Commun 1984 1.55
13 Biosynthesis of the lysosomal enzyme glucocerebrosidase. J Biol Chem 1985 1.48
14 Isolation and characterization of the human tyrosine hydroxylase gene: identification of 5' alternative splice sites responsible for multiple mRNAs. Biochemistry 1987 1.45
15 Gaucher disease in the neonate: a distinct Gaucher phenotype is analogous to a mouse model created by targeted disruption of the glucocerebrosidase gene. Pediatr Res 1992 1.43
16 Gene mapping and leader polypeptide sequence of human glucocerebrosidase: implications for Gaucher disease. Proc Natl Acad Sci U S A 1985 1.42
17 Lack of an association between a dopamine-4 receptor polymorphism and attention-deficit/hyperactivity disorder: genetic and brain morphometric analyses. Mol Psychiatry 1998 1.41
18 A new gene, EVC2, is mutated in Ellis-van Creveld syndrome. Mol Genet Metab 2002 1.38
19 Nucleotide sequence of cDNA containing the complete coding sequence for human lysosomal glucocerebrosidase. J Biol Chem 1986 1.37
20 A canine chromosome 7 locus confers compulsive disorder susceptibility. Mol Psychiatry 2010 1.23
21 Assignment of the gene coding for human beta-glucocerebrosidase to the region q21-q31 of chromosome 1 using monoclonal antibodies. Hum Genet 1983 1.22
22 Determination of Gaucher's disease phenotypes with monoclonal antibody. Clin Chim Acta 1983 1.22
23 The molecular biology of Gaucher disease and the potential for gene therapy. Cold Spring Harb Symp Quant Biol 1986 1.22
24 Oxytocin and milk removal are required for post-partum mammary-gland development. Genes Funct 1997 1.17
25 Structure and organization of the human metaxin gene (MTX) and pseudogene. Genomics 1996 1.16
26 Glucosylsphingosine accumulation in mice and patients with type 2 Gaucher disease begins early in gestation. Pediatr Res 2000 1.16
27 Metaxin, a gene contiguous to both thrombospondin 3 and glucocerebrosidase, is required for embryonic development in the mouse: implications for Gaucher disease. Proc Natl Acad Sci U S A 1995 1.15
28 Biosynthesis and maturation of glucocerebrosidase in Gaucher fibroblasts. Eur J Biochem 1987 1.14
29 Human tyrosine hydroxylase (TH) genomic fragment (pHGTH4) identifies a PstI polymorphism. Nucleic Acids Res 1988 1.10
30 Signal sequence and DNA-mediated expression of human lysosomal alpha-galactosidase A. Eur J Biochem 1987 1.09
31 Monoclonal antibodies against human beta-glucocerebrosidase. Eur J Biochem 1983 1.08
32 DNA mutational analysis of type 1 and type 3 Gaucher patients: how well do mutations predict phenotype? Hum Mutat 1994 1.03
33 Epidermal abnormalities may distinguish type 2 from type 1 and type 3 of Gaucher disease. Pediatr Res 1996 1.01
34 Transgenic expression of green fluorescent protein in mouse oxytocin neurones. J Neuroendocrinol 1999 1.00
35 Chromosome 22q11.2 interstitial deletions among childhood-onset schizophrenics and "multidimensionally impaired". Am J Med Genet 1998 1.00
36 Bone-marrow transplantation in severe Gaucher's disease. N Engl J Med 1984 0.97
37 Retrovirus-mediated transfer of the human glucocerebrosidase gene to Gaucher fibroblasts. Mol Biol Med 1986 0.96
38 Two novel polymorphic sequences in the glucocerebrosidase gene region enhance mutational screening and founder effect studies of patients with Gaucher disease. Hum Genet 1999 0.95
39 The subcellular localization of soluble and membrane-bound lysosomal enzymes in I-cell fibroblasts: a comparative immunocytochemical study. Eur J Cell Biol 1985 0.95
40 Association of an X-chromosome dodecamer insertional variant allele with mental retardation. Mol Psychiatry 1998 0.95
41 Human glucocerebrosidase: heterologous expression of active site mutants in murine null cells. Glycobiology 2000 0.94
42 Isolation, characterization, and proteolysis of human prosaposin, the precursor of saposins (sphingolipid activator proteins). Arch Biochem Biophys 1993 0.91
43 The occurrence of two immunologically distinguishable beta-glucocerebrosidases in human spleen. Eur J Biochem 1985 0.91
44 Glucocerebrosidase, a lysosomal enzyme that does not undergo oligosaccharide phosphorylation. Biochim Biophys Acta 1988 0.90
45 Clinical heterogeneity among patients with Gaucher's disease. JAMA 1993 0.90
46 A novel transcript from a pseudogene for human glucocerebrosidase in non-Gaucher disease cells. Gene 1993 0.87
47 Structure and organization of the human thrombospondin 3 gene (THBS3). Genomics 1995 0.86
48 gamma-Aminobutyric acid (GABA) induces a receptor-mediated reduction in GABAA receptor alpha subunit messenger RNAs in embryonic chick neurons in culture. J Biol Chem 1991 0.85
49 Ultrastructural localization of glucocerebrosidase in cultured Gaucher's disease fibroblasts by immunocytochemistry. J Neurol 1987 0.85
50 Production of antisera selective for m1 muscarinic receptors using fusion proteins: distribution of m1 receptors in rat brain. Mol Pharmacol 1991 0.84
51 CD4 receptor binding peptides that block HIV infectivity cause human monocyte chemotaxis. Relationship to vasoactive intestinal polypeptide. FEBS Lett 1987 0.84
52 Glycosylation and processing of high levels of active human glucocerebrosidase in invertebrate cells using a baculovirus expression vector. DNA 1988 0.83
53 Gaucher's disease: the best laid schemes of mice and men. Baillieres Clin Haematol 1997 0.83
54 Linkage analysis of juvenile parkinsonism to tyrosine hydroxylase gene locus on chromosome 11. Neurology 1991 0.83
55 The genomic structure and developmental expression patterns of the human OPA-containing gene (HOPA). Hum Genet 1999 0.82
56 A new group of glucocerebrosidase isozymes found in human white blood cells. Biochem Biophys Res Commun 1980 0.81
57 Targeted reduction of oxytocin expression provides insights into its physiological roles. Adv Exp Med Biol 1998 0.81
58 A juvenile form of glycerol kinase deficiency with episodic vomiting, acidemia, and stupor. J Pediatr 1984 0.80
59 Prolonged ethanol inhalation decreases gamma-aminobutyric acidA receptor alpha subunit mRNAs in the rat cerebral cortex. Mol Pharmacol 1991 0.80
60 Localization of neuron-specific enolase (NSE) mRNA in human brain. Neurosci Lett 1987 0.80
61 A triplet repeat on 17q accounts for most expansions detected by the repeat-expansion-detection technique. Am J Hum Genet 1998 0.80
62 Large CAG/CTG repeats are associated with childhood-onset schizophrenia. Mol Psychiatry 1998 0.80
63 Microinjection into Xenopus oocytes: equipment. Methods Enzymol 1987 0.80
64 Regional distribution of the GABAA/benzodiazepine receptor (alpha subunit) mRNA in rat brain. J Neurochem 1988 0.80
65 Bone marrow transplantation in Gaucher disease. Birth Defects Orig Artic Ser 1986 0.80
66 Mice with an aspartylglucosaminuria mutation similar to humans replicate the pathophysiology in patients. Hum Mol Genet 1998 0.79
67 The inheritance of bipolar affective disorder: abundant genes coming together. J Affect Disord 1997 0.79
68 Molecular weight characterization of beta-D-glucocerebrosidase in mononuclear white blood cells in Gaucher's disease. Biochem Med 1984 0.79
69 Responses of the mouse to microwave radiation during estrous cycle and pregnancy. Radiat Res 1975 0.79
70 Splenectomy in Gaucher disease: new management dilemmas. Blood 1998 0.78
71 Childhood-onset schizophrenia/autistic disorder and t(1;7) reciprocal translocation: identification of a BAC contig spanning the translocation breakpoint at 7q21. Am J Med Genet 2000 0.78
72 Gaucher's disease: advances and challenges. Adv Pediatr 1989 0.77
73 Genetically altered and defined cell lines for transplantation in animal models of Parkinson's disease. Prog Brain Res 1990 0.77
74 Monitoring the CNS pathology in aspartylglucosaminuria mice. J Neuropathol Exp Neurol 1998 0.77
75 Pathologic fractures may develop in Gaucher patients receiving enzyme replacement therapy. Am J Hematol 1994 0.76
76 Gaucher disease plus. J Med Genet 1997 0.76
77 Brain grafts and Parkinson's disease. J Cell Biochem 1991 0.76
78 Apolipoprotein E alleles in childhood-onset schizophrenia. Am J Med Genet 1999 0.76
79 Gaucher patients with oculomotor abnormalities do not have a unique genotype. Clin Genet 1992 0.75
80 Genetic basis of Gaucher disease. J Pediatr 1995 0.75
81 Multiple GABAA receptor alpha subunit mRNAs revealed by developmental and regional expression in rat, chicken and human brain. FEBS Lett 1989 0.75
82 A biochemical and immunocytochemical study on the targeting of alglucerase in murine liver. Histochem J 1995 0.75
83 Absence of a significant linkage between Na(+),K(+)-ATPase subunit (ATP1A3 and ATP1B3) genotypes and bipolar affective disorder in the old-order Amish. Am J Med Genet 2001 0.75
84 The characterization and sequence analysis of thirty CTG-repeat containing genomic cosmid clones. Eur J Hum Genet 1998 0.75
85 Cardiovascular fibrosis, hydrocephalus, ophthalmoplegia, and visceral involvement in an American child with Gaucher disease. J Med Genet 2000 0.75
86 Diagnosing Gaucher disease. Early recognition, implications for treatment, and genetic counseling. Clin Pediatr (Phila) 1995 0.75
87 Phenotypic and genotypic heterogeneity in gaucher disease: Implications for genetic counseling. J Genet Couns 1994 0.75
88 Treatment of Gaucher's disease. N Engl J Med 1993 0.75
89 Erythropoietin levels in Gaucher patients. Am J Hematol 1992 0.75
90 Direct sequencing of trinucleotide repeats from cosmid genomic DNA template. Anal Biochem 1995 0.75
91 Genotype D399N/R463C in a patient with type 3 Gaucher disease previously assigned genotype N370S/R463C. Biochem Mol Med 1996 0.75
92 Isozymes of beta-glucosidase: determination of Gaucher's disease phenotypes. Isozymes Curr Top Biol Med Res 1983 0.75
93 Mutations in Gaucher's disease detected by MspI. Lancet 1990 0.75
94 Life-threatening splenic hemorrhage in two patients with Gaucher disease. Am J Hematol 2000 0.75
95 Prospects for enzyme replacement therapy in Gaucher disease. Prog Clin Biol Res 1982 0.75
96 False-positive pregnancy tests in Gaucher's disease. Lancet 1994 0.75
97 Glucocerebroside-beta-glucosidase isozymes. Prog Clin Biol Res 1982 0.75
98 HLA antigens in childhood onset schizophrenia. Psychiatry Res 1998 0.75
99 Anemic Gaucher patients with elevated endogenous erythropoietin levels may not respond to recombinant erythropoietin therapy. Blood 1992 0.75