PubRank

Charles J Epstein

Author PubWeight™ 77.35‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet 2010 13.70
2 Life-long reduction in MnSOD activity results in increased DNA damage and higher incidence of cancer but does not accelerate aging. Physiol Genomics 2003 3.84
3 Increased App expression in a mouse model of Down's syndrome disrupts NGF transport and causes cholinergic neuron degeneration. Neuron 2006 3.51
4 CuZnSOD deficiency leads to persistent and widespread oxidative damage and hepatocarcinogenesis later in life. Oncogene 2005 3.17
5 Absence of CuZn superoxide dismutase leads to elevated oxidative stress and acceleration of age-dependent skeletal muscle atrophy. Free Radic Biol Med 2006 3.04
6 Slit1 and Slit2 cooperate to prevent premature midline crossing of retinal axons in the mouse visual system. Neuron 2002 2.77
7 Hippocampal long-term potentiation suppressed by increased inhibition in the Ts65Dn mouse, a genetic model of Down syndrome. J Neurosci 2004 2.73
8 The overexpression of major antioxidant enzymes does not extend the lifespan of mice. Aging Cell 2008 2.25
9 Overexpression of Mn superoxide dismutase does not increase life span in mice. J Gerontol A Biol Sci Med Sci 2009 1.98
10 Synaptic structural abnormalities in the Ts65Dn mouse model of Down Syndrome. J Comp Neurol 2004 1.92
11 Urea-selective concentrating defect in transgenic mice lacking urea transporter UT-B. J Biol Chem 2002 1.79
12 Genetic modifiers of the phenotype of mice deficient in mitochondrial superoxide dismutase. Hum Mol Genet 2006 1.68
13 Alterations in mitochondrial function, hydrogen peroxide release and oxidative damage in mouse hind-limb skeletal muscle during aging. Mech Ageing Dev 2006 1.67
14 App gene dosage modulates endosomal abnormalities of Alzheimer's disease in a segmental trisomy 16 mouse model of down syndrome. J Neurosci 2003 1.59
15 Dosage-dependent over-expression of genes in the trisomic region of Ts1Cje mouse model for Down syndrome. Hum Mol Genet 2004 1.57
16 The in vivo gene expression signature of oxidative stress. Physiol Genomics 2008 1.55
17 Genes contributing to prion pathogenesis. J Gen Virol 2008 1.51
18 A mechanism-based antioxidant approach for the reduction of skin carcinogenesis. Cancer Res 2005 1.48
19 DYRK1A-dosage imbalance perturbs NRSF/REST levels, deregulating pluripotency and embryonic stem cell fate in Down syndrome. Am J Hum Genet 2008 1.45
20 Iron-responsive degradation of iron-regulatory protein 1 does not require the Fe-S cluster. EMBO J 2006 1.43
21 Craniofacial phenotypes in segmentally trisomic mouse models for Down syndrome. Am J Med Genet 2002 1.39
22 Synaptic and cognitive abnormalities in mouse models of Down syndrome: exploring genotype-phenotype relationships. J Comp Neurol 2007 1.38
23 Multiple deficiencies in antioxidant enzymes in mice result in a compound increase in sensitivity to oxidative stress. Free Radic Biol Med 2004 1.30
24 The challenge of Down syndrome. Trends Mol Med 2006 1.28
25 A biologically effective fullerene (C60) derivative with superoxide dismutase mimetic properties. Free Radic Biol Med 2004 1.24
26 Mitochondrial dysfunction and tau hyperphosphorylation in Ts1Cje, a mouse model for Down syndrome. Hum Mol Genet 2006 1.20
27 Manganese superoxide dismutase deficiency enhances cell turnover via tumor promoter-induced alterations in AP-1 and p53-mediated pathways in a skin cancer model. Oncogene 2002 1.19
28 Abnormal synaptic plasticity in the Ts1Cje segmental trisomy 16 mouse model of Down syndrome. Neuropharmacology 2005 1.15
29 Increased sensitivity of homozygous Sod2 mutant mice to oxygen toxicity. Free Radic Biol Med 2002 1.05
30 Sequential targeted deficiency of SP-A and -D leads to progressive alveolar lipoproteinosis and emphysema. Am J Physiol Lung Cell Mol Physiol 2002 1.04
31 Enlarged brain ventricles and impaired neurogenesis in the Ts1Cje and Ts2Cje mouse models of Down syndrome. Cereb Cortex 2009 0.99
32 Identification and characterization of a new Down syndrome model, Ts[Rb(12.1716)]2Cje, resulting from a spontaneous Robertsonian fusion between T(171)65Dn and mouse chromosome 12. Mamm Genome 2005 0.96
33 Enhanced expression of mitochondrial superoxide dismutase leads to prolonged in vivo cell cycle progression and up-regulation of mitochondrial thioredoxin. Free Radic Biol Med 2010 0.94
34 2010 Victor A. McKusick Leadership Award introduction and address. Am J Hum Genet 2011 0.92
35 Effect of SOD1 overexpression on age- and noise-related hearing loss. Free Radic Biol Med 2003 0.92
36 Skeletal defects in paternal uniparental disomy for chromosome 14 are re-capitulated in the mouse model (paternal uniparental disomy 12). Hum Genet 2003 0.91
37 Prolonged ethanol administration depletes mitochondrial DNA in MnSOD-overexpressing transgenic mice, but not in their wild type littermates. Toxicol Appl Pharmacol 2008 0.90
38 Transgenic and mutant mice for oxygen free radical studies. Methods Enzymol 2002 0.90
39 Effect of the reduction of superoxide dismutase 1 and 2 or treatment with alpha-tocopherol on tumorigenesis in Atm-deficient mice. Free Radic Biol Med 2006 0.84
40 Increased lipid peroxidation in Down's syndrome mouse models. J Neurochem 2009 0.84
41 Selective neuronal vulnerability and inadequate stress response in superoxide dismutase mutant mice. Free Radic Biol Med 2005 0.81
42 Down's syndrome: critical genes in a critical region. Nature 2006 0.80
43 MYH9 spectrum of autosomal-dominant giant platelet syndromes: unexpected association with fibulin-1 variant-D inactivation. Am J Hematol 2003 0.77
44 Reactive oxygen species and vascular cell adhesion molecule-1 in distant organ failure following bile duct obstruction in mice. Dig Dis Sci 2002 0.76