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List of works by Dwight Stambolian

A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants

scientific article published on 21 December 2015

A recurrent mutation in PARK2 is associated with familial lung cancer

scientific article

A reference panel of 64,976 haplotypes for genotype imputation

scientific article

ASSOCIATION OF DRUSEN VOLUME WITH CHOROIDAL PARAMETERS IN NONNEOVASCULAR AGE-RELATED MACULAR DEGENERATION.

scientific article published on 6 February 2017

Abnormal thickening as well as thinning of the photoreceptor layer in intermediate age-related macular degeneration

scientific article published on 5 March 2013

Age-related macular degeneration-associated variants at chromosome 10q26 do not significantly alter ARMS2 and HTRA1 transcript levels in the human retina.

scientific article

Age-related macular degeneration: genetics and biology coming together

scientific article

Analysis of six genetic risk factors highly associated with AMD in the region surrounding ARMS2 and HTRA1 on chromosome 10, region q26.

scientific article published on 20 November 2009

Ancestry estimation and control of population stratification for sequence-based association studies

scientific article

Ancestry of the Timorese: age-related macular degeneration associated genotype and allele sharing among human populations from throughout the world

scientific article published on 9 July 2015

Assessing the Genetic Predisposition of Education on Myopia: A Mendelian Randomization Study

scientific article published on 26 October 2015

Association between high-risk disease loci and response to anti-vascular endothelial growth factor treatment for wet age-related macular degeneration ⬇️

scientific article published on January 1, 2012

Association of OCT derived drusen measurements with AMD associated-genotypic SNPs in Amish population

scientific article

Association of matrix metalloproteinase gene polymorphisms with refractive error in Amish and Ashkenazi families

scientific article

Biochemical characterization of two GALK1 mutations in patients with galactokinase deficiency

scientific article

Candidate high myopia loci on chromosomes 18p and 12q do not play a major role in susceptibility to common myopia

scientific article

Caucasian Families Exhibit Significant Linkage of Myopia to Chromosome 11p.

scientific article

Complement factor D in age-related macular degeneration

scientific article published on 11 November 2011

Copy number variants encompassing Mendelian disease genes in a large multigenerational family segregating bipolar disorder

scientific article

Dissecting the genetic heterogeneity of myopia susceptibility in an Ashkenazi Jewish population using ordered subset analysis

scientific article

Erratum: Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia

article

Evidence of association of APOE with age-related macular degeneration: a pooled analysis of 15 studies

scientific article published on 12 September 2011

Exome genotyping and linkage analysis identifies two novel linked regions and replicates two others for myopia in Ashkenazi Jewish families

scholarly article by Claire L Simpson et al published 31 January 2019 in BMC Medical Genetics

Fine-mapping of candidate region in Amish and Ashkenazi families confirms linkage of refractive error to a QTL on 1p34-p36.

scientific article published on 17 July 2009

Genetic and phenotypic analysis of Tcm, a mutation affecting early eye development

scientific journal article

Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration

scientific article (2010)

Genetically low vitamin D concentrations and myopic refractive error: a Mendelian randomization study

scientific article published on 6 June 2017

Genetics of age-related macular degeneration (AMD).

scientific article published on August 2017

Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: the CREAM consortium

scientific article

Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia

scientific article

Genome-wide meta-analysis of myopia and hyperopia provides evidence for replication of 11 loci

scientific article

Genome-wide scan of African-American and white families for linkage to myopia

scientific article

Genomewide linkage scan for myopia susceptibility loci among Ashkenazi Jewish families shows evidence of linkage on chromosome 22q12

scientific article

Genomewide linkage scans for ocular refraction and meta-analysis of four populations in the Myopia Family Study

scientific article

Genomewide scan in Ashkenazi Jewish families demonstrates evidence of linkage of ocular refraction to a QTL on chromosome 1p36.

scientific article

Genomewide scan of ocular refraction in African-American families shows significant linkage to chromosome 7p15.

scientific article

Genomic Profiling of miRNAs in Two Human Lens Cell Lines ⬇️

scientific article published on September 1, 2010

Heritability and familial aggregation of refractive error in the Old Order Amish

scientific article

Identification of a rare coding variant in complement 3 associated with age-related macular degeneration

scientific article published on 15 September 2013

Large scale international replication and meta-analysis study confirms association of the 15q14 locus with myopia. The CREAM consortium

scientific article

Linear mixed models for association analysis of quantitative traits with next-generation sequencing data

Low Vision Rehabilitation for Adult African Americans in Two Settings

scientific article

MATCHCLIP: locate precise breakpoints for copy number variation using CIGAR string by matching soft clipped reads

scientific article published on 16 August 2013

Matrix metalloproteinases and educational attainment in refractive error: evidence of gene-environment interactions in the Age-Related Eye Disease Study

scientific article published on 23 October 2012

Meta-analysis of gene-environment-wide association scans accounting for education level identifies additional loci for refractive error

scientific article published on 29 March 2016

Meta-analysis of genome-wide association studies in five cohorts reveals common variants in RBFOX1, a regulator of tissue-specific splicing, associated with refractive error

scientific article

MiRNA expression in the eye.

scientific article published on 22 July 2008

Next-generation genotype imputation service and methods

scientific article published on 29 August 2016

Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error

scientific article

Organization and annotation of the Xcat critical region: elimination of seven positional candidate genes

scientific article published in May 2004

Quasi-least squares with mixed linear correlation structures ⬇️

scientific article published on January 1, 2010

RNA expression in human retina

scientific article published on August 2017

Rare and common variants in extracellular matrix gene Fibrillin 2 (FBN2) are associated with macular degeneration

scientific article

Rare copy number variants in patients with congenital conotruncal heart defects

scientific article published on 13 February 2017

Regional replication of association with refractive error on 15q14 and 15q25 in the Age-Related Eye Disease Study cohort

scientific article

Sequence and Expression of Complement Factor H Gene Cluster Variants and Their Roles in Age-Related Macular Degeneration Risk

scientific article published on May 2016

Variations in apolipoprotein E frequency with age in a pooled analysis of a large group of older people

scientific article

Xcat, a novel mouse model for Nance-Horan syndrome inhibits expression of the cytoplasmic-targeted Nhs1 isoform

scientific article published on 15 December 2005

r2VIM: A new variable selection method for random forests in genome-wide association studies

scientific article published on February 2016

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