Associate Professor, Ophthalmology, Perelman School of Medicine
Ophthalmology
Dr. Dwight Stambolian, MD
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Dwight Stambolian, MD practices Ophthalmology. He researched medicine at State University of New York Downstate Medical Center College of Medicine. He over the years received 1 awards: "CMS Meaningful Use Stage 1 Certification". Dwight Stambolian is also a published MD. He has 80 publication published. The most recent publication is: Abnormal eye development associated with Cat4a, a dominant mouse cataract mutation on chromosome 8. He accepts Medicare.
Publications
- Assessing the Genetic Predisposition of Education on Myopia: A Mendelian Randomization Study.
- A recurrent mutation in PARK2 is associated with familial lung cancer.
- Transcriptome of the human retina, retinal pigmented epithelium and choroid.
- Genome-wide association study for refractive Astigmatism reveals genetic co-determination with spherical equivalent refractive error: the CREAM consortium.
- Age-Related Macular Degeneration: Genetics and Biology Coming Together.
- Ancestry estimation and control of population stratification for sequence-based association studies.
- Comprehensive Analysis of Gene Expression in Human Retina and Supporting Tissues.
- Identification of a rare coding variant in complement 3 associated with age-related Macular degeneration.
- Genetic Susceptibility and Mechanisms for Refractive Error.
- Meta-Analysis of Genome-wide Association Studies in 5 cohorts reveals common variants in RBFOX1, a regulator of tissue-specific splicing, associated with refractive er...
- Seven new loci associated with age-related Macular degeneration.
- Matrix Metalloproteinases and Educational Attainment in Refractive Error: Evidence of Gene-Environment Interactions in the Age-related Eye Disease Study.
- Abnormal Thickening as well as Thinning of the Photoreceptor Layer in Intermediate Age-Related Macular Degeneration.
- Genome-wide meta-analysis of myopia and hyperopia provides evidence for replication of 11 Loci.
- Optic disc and cup segmentation from color fundus photograph using graph cut with priors.
- MATCHCLIP: locate precise breakpoints for copy number variation using CIGAR string by matching soft clipped reads.
- The mouse Cat4 locus maps to chromosome 8 and mutants express lens-corneal adhesion.
- Genetic mapping of a mouse ocular malformation locus, Tcm, to chromosome 4.
- Fine structure of the human galactokinase GALK1 gene.
- Mouse galactokinase: isolation, characterization, and location on chromosome 11.
- Mapping of the 75-kDa inositol polyphosphate-5-phosphatase (Inpp5b) to distal mouse chromosome 4 and its exclusion as a candidate gene for dysgenetic lens.
- Lens development in a dominant X-linked congenital Cataract of the mouse.
- Mapping of the X-linked Cataract (Xcat) mutation, the gene implicated in the Nance Horan syndrome, on the mouse X chromosome.
- Cloning of the galactokinase cDNA and identification of mutations in two families with Cataracts.
- Exclusion of three candidate genes, Grpr, Cxn33, and Pdha1, for the X-linked Cataract gene on the distal region of the mouse chromosome X.
- Comparison of the enzymatic activities of human galactokinase GALK1 and a related human galactokinase protein GK2.
- Isoelectric-focusing of galactokinase in lens and other tissues.
- Purification of human galactokinase and evidence for its existence as a monomer form.
- Cataracts in patients heterozygous for galactokinase deficiency.
- Macular deposits in galactokinase deficiency.
- Galactokinase activity in patients with Cataracts.
- Congenital Glaucoma associated with a chromosomal abnormality.
- Gene location in neurofibromatosis.
- Galactose and Cataract.
- Ribosomal RNA gene sequences and hominoid phylogeny.
- Sequence and structure correlation of human ribosomal transcribed spacers.
- Transcriptome analysis and molecular signature of human retinal pigment epithelium.
- Nance-Horan syndrome: localization within the region Xp21.1-Xp22.3 by linkage analysis.
- Mapping X-linked ophthalmic diseases. IV. Provisional assignment of the locus for X-linked congenital Cataracts and microcornea (the Nance-Horan syndrome) to Xp22.2-p2...
- Cytogenetic and molecular investigation of a balanced Xq13q translocation in a patient with retinoblastoma.
- Optic neuropathy associated with vitamin B12 deficiency.
- A mouse model of galactose-induced Cataracts.
- Additional copies of the proteolipid protein gene causing Pelizaeus-Merzbacher disease arise by separate integration into the X chromosome.
- Novel mutations in 13 probands with galactokinase deficiency.
- Abnormal eye development associated with Cat4a, a dominant mouse Cataract mutation on chromosome 8.
- A novel approach to search for identity by descent in small samples of patients and controls from the same mendelian breeding unit: a pilot study on myopia.
- Lens changes in hereditary hyperferritinemia-Cataract syndrome.
- Ferritin crystal Cataracts in hereditary hyperferritinemia Cataract syndrome.
- Complement factor D in age-related Macular degeneration.
- Evidence of association of APOE with age-related Macular degeneration: a pooled analysis of 15 studies.
- ASSOCIATION BETWEEN HIGH-RISK DISEASE LOCI AND RESPONSE TO ANTI-VASCULAR ENDOTHELIAL GROWTH FACTOR TREATMENT FOR WET AGE-RELATED Macular DEGENERATION.
- Dissecting the genetic heterogeneity of myopia susceptibility in an Ashkenazi Jewish population using ordered subset analysis.
- Variations in apolipoprotein E frequency with age in a pooled analysis of a large group of older people.
- Genomic profiling of miRNAs in two human lens cell lines.
- Age-related Macular degeneration-associated variants at chromosome 10q26 do not significantly alter ARMS2 and HTRA1 transcript levels in the human retina.
- Association of matrix metalloproteinase gene polymorphisms with refractive error in Amish and Ashkenazi families.
- Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related Macular degeneration.
- Analysis of six genetic risk factors highly associated with AMD in the region surrounding ARMS2 and HTRA1 on chromosome 10, region q26.
- Fine-mapping of candidate region in Amish and Ashkenazi families confirms linkage of refractive error to a QTL on 1p34-p36.
- Genomewide linkage scans for ocular refraction and meta-analysis of four populations in the Myopia Family Study.
- Genome-wide scan of African-American and white families for linkage to myopia.
- MiRNA expression in the eye.
- Genomewide scan of ocular refraction in African-American families shows significant linkage to chromosome 7p15.
- Heritability and familial aggregation of refractive error in the Old Order Amish.
- Identification of three novel NHS mutations in families with Nance-Horan syndrome.
- Genome-wide scan of additional Jewish families confirms linkage of a myopia susceptibility locus to chromosome 22q12.
- Genomewide scan in Ashkenazi Jewish families demonstrates evidence of linkage of ocular refraction to a QTL on chromosome 1p36.
- Xcat, a novel mouse model for Nance-Horan syndrome inhibits expression of the cytoplasmic-targeted Nhs1 isoform.
- Genetic and phenotypic analysis of Tcm, a mutation affecting early eye development.
- Genome-wide scan for myopia in the Old Order Amish.
- Candidate high myopia loci on chromosomes 18p and 12q do not play a major role in susceptibility to common myopia.
- Genomewide linkage scan for myopia susceptibility loci among Ashkenazi Jewish families shows evidence of linkage on chromosome 22q12.
- Organization and annotation of the Xcat critical region: elimination of seven positional candidate genes.
- Biochemical characterization of two GALK1 mutations in patients with galactokinase deficiency.
- Stickler's syndrome in the Cleft Palate Clinic.
- Mapping of the autosomal dominant Cataract mutation (Coc) on mouse chromosome 16.
- A 76-bp deletion in the Mip gene causes autosomal dominant Cataract in Hfi mice.
- A 32 kb critical region excluding Y402H in CFH mediates risk for age-related Macular degeneration.
- Annotation and analysis of 10,000 expressed sequence tags from developing mouse eye and adult retina.
Schools
SUNY Downstate Medical Center College Of Medicine
Li Jewish Med Center
University Of Pennsylvania
Children39s Hospital Of Philadelphia
Conditions Treated
- Age-Related Macular Degeneration
- Astigmatism
- Cataract
- Diabetic Retinopathy
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Doctors Specialties
- Ophthalmology
Accepted Insurances
Awards
- CMS Meaningful Use Stage 1 Certification
Education
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University of Pennsylvania -
North Shore-Long Island Jewish Health System -
State University of New York Downstate Medical Center College of Medicine
Hospital
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Hospital of the University of Pennsylvania -
Penn Presbyterian Medical Center -
Philadelphia Veterans Affairs Medical Center
Helpful Reviews
Medicare Facts
| National Provider Identifier [NPI] | 1093807489 |
| Last Name Of The Provider | STAMBOLIAN |
| First Name Of The Provider | DWIGHT |
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