Physician

Medical Genetics

Charles Epstein is an expert in the field of Medical Genetics. He received awards:"Investigator Alumnus". Charles Epstein is also published. He has 39 publications published. The lastest publication: "Dissecting neural differentiation regulatory networks through epigenetic footprinting.' Charles Epstein accepts Medicare.

Publications

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• Dissecting neural differentiation regulatory networks through epigenetic footprinting.
• Transcriptional and Epigenetic Dynamics during Specification of Human Embryonic Stem Cells.
• ChIP-seq guidelines and practices of the ENCODE and modENCODE consortia.
• 2010 Victor A. McKusick Leadership Award introduction and address.
• Enhanced expression of mitochondrial superoxide dismutase leads to prolonged in vivo cell cycle progression and up-regulation of mitochondrial thioredoxin.
• Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.
• Enlarged brain ventricles and impaired neurogenesis in the Ts1Cje and Ts2Cje mouse models of Down syndrome.
• Overexpression of Mn superoxide dismutase does not increase life span in mice.
• Prolonged ethanol administration depletes mitochondrial DNA in MnSOD-overexpressing transgenic mice, but not in their wild type littermates.
• DYRK1A-dosage imbalance perturbs NRSF/REST levels, deregulating pluripotency and embryonic stem cell fate in Down syndrome.
• The in vivo gene expression signature of oxidative stress.
• Synaptic and cognitive abnormalities in mouse models of Down syndrome: exploring genotype-phenotype relationships.
• Medical genetics in the genomic medicine of the 21st century.
• Effect of the reduction of superoxide dismutase 1 and 2 or treatment with alpha-tocopherol on tumorigenesis in Atm-deficient mice.
• Increased App expression in a mouse model of Down's syndrome disrupts NGF transport and causes cholinergic neuron degeneration.
• Absence of CuZn superoxide dismutase leads to elevated oxidative stress and acceleration of age-dependent skeletal muscle atrophy.
• Medical geneticists in the 21st century.
• Selective neuronal vulnerability and inadequate stress response in superoxide dismutase mutant mice.
• A mechanism-based antioxidant approach for the reduction of skin carcinogenesis.
• 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 ch...
• Synaptic structural abnormalities in the Ts65Dn mouse model of Down Syndrome.
• A biologically effective fullerene (C60) derivative with superoxide dismutase mimetic properties.
• Hippocampal long-term potentiation suppressed by increased inhibition in the Ts65Dn mouse, a genetic model of Down syndrome.
• Genetic testing: hope or hype?
• Multiple deficiencies in antioxidant enzymes in mice result in a compound increase in sensitivity to oxidative stress.
• Life-long reduction in MnSOD activity results in increased DNA damage and higher incidence of cancer but does not accelerate aging.
• MYH9 spectrum of autosomal-dominant giant platelet syndromes: unexpected association with fibulin-1 variant-D inactivation.
• Is modern genetics the new eugenics?
• App gene dosage modulates endosomal abnormalities of Alzheimer's disease in a segmental trisomy 16 mouse model of down syndrome.
• Effect of SOD1 overexpression on age- and noise-related hearing loss.
• Sequential targeted deficiency of SP-A and -D leads to progressive alveolar lipoproteinosis and emphysema.
• Urea-selective concentrating defect in transgenic mice lacking urea transporter UT-B.
• Reactive oxygen species and vascular cell adhesion molecule-1 in distant organ failure following bile duct obstruction in mice.
• 2001 William Allan Award Address. From Down syndrome to the "human" in "human genetics".
• Craniofacial phenotypes in segmentally trisomic mouse models for Down syndrome.
• Slit1 and Slit2 cooperate to prevent premature midline crossing of retinal axons in the mouse visual system.
• Increased sensitivity of homozygous Sod2 mutant mice to oxygen toxicity.
• Transgenic and mutant mice for oxygen free radical studies.

Schools

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• Harvard Medical School

• Peter Bent Brigham Hospital

• University of Washington

Doctors Specialties

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• Clinical Genetics
• Medical Genetics

Accepted Insurances

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Awards

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• Investigator Alumnus

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