Lista de obras -

A genome-wide scan for common alleles affecting risk for autism

scientific journal article

A haplotype at chromosome Xq27.2 confers susceptibility to prostate cancer.

artículo científico publicado en 2008

A major zebrafish polymorphism resource for genetic mapping.

artículo científico publicado en 2007

A membrane-distal segment of the integrin alpha IIb cytoplasmic domain regulates integrin activation.

artículo científico publicado en 2001

A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder

artículo científico publicado en 2011

Analysis of protein-altering variants in telomerase genes and their association with MUC5B common variant status in patients with idiopathic pulmonary fibrosis: a candidate gene sequencing study

artículo científico publicado en 2018

Association of CAV1/CAV2 genomic variants with primary open-angle glaucoma overall and by gender and pattern of visual field loss

artículo científico publicado en 2013

CDKN2B-AS1 genotype-glaucoma feature correlations in primary open-angle glaucoma patients from the United States

artículo científico publicado en 2012

Common variants at 9p21 and 8q22 are associated with increased susceptibility to optic nerve degeneration in glaucoma

artículo científico publicado en 2012

Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma in Caucasians from the USA ⬇️

artículo científico publicado el 26 de agosto de 2011

DNA copy number variants of known glaucoma genes in relation to primary open-angle glaucoma

artículo científico publicado en 2014

Enabling genome-wide association testing with multiple diseases and no healthy controls

scientific article published on 23 October 2018

Erratum. Multiethnic Genome-Wide Association Study of Diabetic Retinopathy Using Liability Threshold Modeling of Duration of Diabetes and Glycemic Control. Diabetes 2019;68:441-456

scientific article published on 27 April 2020

Estrogen pathway polymorphisms in relation to primary open angle glaucoma: an analysis accounting for gender from the United States

artículo científico publicado en 2013

Functional analysis of protective IL1RL1 variants associated with asthma risk

artículo científico publicado en 2014

Functional impact of global rare copy number variation in autism spectrum disorders

artículo científico publicado en 2010

Gene-ontology enrichment analysis in two independent family-based samples highlights biologically plausible processes for autism spectrum disorders

artículo científico publicado en 2011

Genetic Predisposition to Prostate Cancer: The Contribution of the HPCX locus and TGFB1 gene ⬇️

doctoral dissertation

Genetic analysis of biological pathway data through genomic randomization

artículo científico publicado en 2011

Genetic variants and prostate cancer risk: candidate replication and exploration of viral restriction genes.

artículo científico publicado en 2009

Genome-wide analysis of central corneal thickness in primary open-angle glaucoma cases in the NEIGHBOR and GLAUGEN consortia

artículo científico publicado en 2012

Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus

artículo científico publicado en 2013

Genome-wide association analysis identifies TXNRD2, ATXN2 and FOXC1 as susceptibility loci for primary open-angle glaucoma

artículo científico publicado en 2016

Genome-wide association study and meta-analysis of intraocular pressure

artículo científico publicado en 2013

Haplotype analysis of CYP11A1 identifies promoter variants associated with breast cancer risk

artículo científico publicado en 2007

Hypothesis-independent pathway analysis implicates GABA and acetyl-CoA metabolism in primary open-angle glaucoma and normal-pressure glaucoma

artículo científico publicado en 2014

Inhibitors of cell migration that inhibit intracellular paxillin/alpha4 binding: a well-documented use of positional scanning libraries

artículo científico publicado en 2002

Measuring alcohol consumption for genomic meta-analyses of alcohol intake: opportunities and challenges

artículo científico publicado en 2012

Mechanisms of age-related macular degeneration and therapeutic opportunities

artículo científico publicado en 2014

Multiethnic Genome-Wide Association Study of Diabetic Retinopathy Using Liability Threshold Modeling of Duration of Diabetes and Glycemic Control

scientific article published on 28 November 2018

Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism

artículo científico publicado en 2011

Previously reported placebo-response-associated variants do not predict patient outcomes in inflammatory disease Phase III trial placebo arms

artículo científico publicado en 2018

Rare coding variants of the adenosine A3 receptor are increased in autism: on the trail of the serotonin transporter regulome

artículo científico publicado en 2013

Regulation of T Cell Receptor Signaling by DENND1B in TH2 Cells and Allergic Disease

scientific journal article

Seven new loci associated with age-related macular degeneration

artículo científico publicado en 2013

Strategies for Pathway Analysis Using GWAS and WGS Data

artículo científico publicado en 2018

Strategies for pathway analysis from GWAS data

artículo científico publicado en 2011

Stratified medicine in inflammatory disorders: From theory to practice

artículo científico

Targeting factor D of the alternative complement pathway reduces geographic atrophy progression secondary to age-related macular degeneration

artículo científico publicado en 2017

The NEIGHBOR consortium primary open-angle glaucoma genome-wide association study: rationale, study design, and clinical variables

artículo científico publicado en 2013

Vascular tone pathway polymorphisms in relation to primary open-angle glaucoma

artículo científico publicado en 2014

Lista de obras de

A genome-wide scan for common alleles affecting risk for autism

A haplotype at chromosome Xq27.2 confers susceptibility to prostate cancer.

A major zebrafish polymorphism resource for genetic mapping.

A membrane-distal segment of the integrin alpha IIb cytoplasmic domain regulates integrin activation.

A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder

Analysis of protein-altering variants in telomerase genes and their association with MUC5B common variant status in patients with idiopathic pulmonary fibrosis: a candidate gene sequencing study

Association of CAV1/CAV2 genomic variants with primary open-angle glaucoma overall and by gender and pattern of visual field loss

CDKN2B-AS1 genotype-glaucoma feature correlations in primary open-angle glaucoma patients from the United States

Common variants at 9p21 and 8q22 are associated with increased susceptibility to optic nerve degeneration in glaucoma

Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma in Caucasians from the USA ⬇️

DNA copy number variants of known glaucoma genes in relation to primary open-angle glaucoma

Enabling genome-wide association testing with multiple diseases and no healthy controls

Erratum. Multiethnic Genome-Wide Association Study of Diabetic Retinopathy Using Liability Threshold Modeling of Duration of Diabetes and Glycemic Control. Diabetes 2019;68:441-456

Estrogen pathway polymorphisms in relation to primary open angle glaucoma: an analysis accounting for gender from the United States

Functional analysis of protective IL1RL1 variants associated with asthma risk

Functional impact of global rare copy number variation in autism spectrum disorders

Gene-ontology enrichment analysis in two independent family-based samples highlights biologically plausible processes for autism spectrum disorders

Genetic Predisposition to Prostate Cancer: The Contribution of the HPCX locus and TGFB1 gene ⬇️

Genetic analysis of biological pathway data through genomic randomization

Genetic variants and prostate cancer risk: candidate replication and exploration of viral restriction genes.

Genome-wide analysis of central corneal thickness in primary open-angle glaucoma cases in the NEIGHBOR and GLAUGEN consortia

Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus

Genome-wide association analysis identifies TXNRD2, ATXN2 and FOXC1 as susceptibility loci for primary open-angle glaucoma

Genome-wide association study and meta-analysis of intraocular pressure

Haplotype analysis of CYP11A1 identifies promoter variants associated with breast cancer risk

Hypothesis-independent pathway analysis implicates GABA and acetyl-CoA metabolism in primary open-angle glaucoma and normal-pressure glaucoma

Inhibitors of cell migration that inhibit intracellular paxillin/alpha4 binding: a well-documented use of positional scanning libraries

Measuring alcohol consumption for genomic meta-analyses of alcohol intake: opportunities and challenges

Mechanisms of age-related macular degeneration and therapeutic opportunities

Multiethnic Genome-Wide Association Study of Diabetic Retinopathy Using Liability Threshold Modeling of Duration of Diabetes and Glycemic Control

Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism

Previously reported placebo-response-associated variants do not predict patient outcomes in inflammatory disease Phase III trial placebo arms

Rare coding variants of the adenosine A3 receptor are increased in autism: on the trail of the serotonin transporter regulome

Regulation of T Cell Receptor Signaling by DENND1B in TH2 Cells and Allergic Disease

Seven new loci associated with age-related macular degeneration

Strategies for Pathway Analysis Using GWAS and WGS Data

Strategies for pathway analysis from GWAS data

Stratified medicine in inflammatory disorders: From theory to practice

Targeting factor D of the alternative complement pathway reduces geographic atrophy progression secondary to age-related macular degeneration

The NEIGHBOR consortium primary open-angle glaucoma genome-wide association study: rationale, study design, and clinical variables

Vascular tone pathway polymorphisms in relation to primary open-angle glaucoma