Lista de obras -

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

artículo científico publicado en 2015

A recurrent mutation in PARK2 is associated with familial lung cancer

artículo científico publicado en 2015

A reference panel of 64,976 haplotypes for genotype imputation

artículo científico publicado en 2016

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

artículo científico publicado en 2017

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

artículo científico publicado en 2013

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

artículo científico publicado en 2010

Age-related macular degeneration: genetics and biology coming together

artículo científico publicado en 2014

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

artículo científico publicado en 2009

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

artículo científico publicado en 2014

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

artículo científico publicado en 2015

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

artículo científico publicado en 2015

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

artículo científico publicado el 1 de enero de 2012

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

artículo científico publicado en 2015

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

artículo científico publicado en 2010

Biochemical characterization of two GALK1 mutations in patients with galactokinase deficiency

artículo científico publicado en 2004

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

artículo científico publicado en 2004

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

artículo científico publicado en 2017

Complement factor D in age-related macular degeneration

artículo científico publicado en 2011

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

artículo científico publicado en 2015

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

artículo científico publicado en 2011

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

artículo científico publicado en 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.

artículo científico publicado en 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

artículo científico publicado en 2010

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

artículo científico publicado en 2017

Genetics of age-related macular degeneration (AMD).

artículo científico publicado en 2017

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

artículo científico publicado en 2014

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

artículo científico publicado en 2013

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

artículo científico publicado en 2014

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

artículo científico publicado en 2008

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

artículo científico publicado en 2004

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

artículo científico publicado en 2009

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

artículo científico publicado en 2006

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

artículo científico publicado en 2008

Genomic Profiling of miRNAs in Two Human Lens Cell Lines ⬇️

artículo científico publicado el 1 de septiembre de 2010

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

artículo científico publicado en 2007

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

artículo científico publicado en 2013

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

artículo científico publicado en 2012

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

Low Vision Rehabilitation for Adult African Americans in Two Settings

artículo científico publicado en 2016

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

artículo científico publicado en 2013

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

artículo científico publicado en 2012

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

artículo científico publicado en 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

artículo científico publicado en 2013

MiRNA expression in the eye.

artículo científico publicado en 2008

Next-generation genotype imputation service and methods

artículo científico publicado en 2016

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

artículo científico publicado en 2013

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

artículo científico publicado en 2004

Quasi-least squares with mixed linear correlation structures ⬇️

artículo científico publicado el 1 de enero de 2010

RNA expression in human retina

artículo científico publicado en 2017

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

artículo científico publicado en 2014

Rare copy number variants in patients with congenital conotruncal heart defects.

artículo científico publicado en 2017

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

artículo científico publicado en 2013

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

artículo científico publicado en 2016

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

artículo científico publicado en 2011

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

artículo científico publicado en 2005

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

artículo científico publicado en 2016

Lista de obras de

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

A recurrent mutation in PARK2 is associated with familial lung cancer

A reference panel of 64,976 haplotypes for genotype imputation

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

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

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

Age-related macular degeneration: genetics and biology coming together

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

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

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

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

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

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

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

Biochemical characterization of two GALK1 mutations in patients with galactokinase deficiency

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

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

Complement factor D in age-related macular degeneration

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

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

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

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

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

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

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

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

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

Genetics of age-related macular degeneration (AMD).

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

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

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

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

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

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

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

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

Genomic Profiling of miRNAs in Two Human Lens Cell Lines ⬇️

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

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

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

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

Low Vision Rehabilitation for Adult African Americans in Two Settings

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

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

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

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

MiRNA expression in the eye.

Next-generation genotype imputation service and methods

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

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

Quasi-least squares with mixed linear correlation structures ⬇️

RNA expression in human retina

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

Rare copy number variants in patients with congenital conotruncal heart defects.

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

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

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

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

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