Author details

Full Name

Ayellet V SegrÃ¨

Affiliation

ORCID

Career Start Year

2006

Papers

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
36990674	Association of retinal optical coherence tomography metrics and polygenic risk scores with cognitive function and future cognitive decline.	Br J Ophthalmol	2024
37162855	Transcriptomic Analysis of the Ocular Posterior Segment Completes a Cell Atlas of the Human Eye.		2023
35361574	Background polygenic risk modulates the association between glaucoma and cardiopulmonary diseases and measures: an analysis from the UK Biobank.	Br J Ophthalmol	2023
37662422	Automated detection of genetic relatedness from fundus photographs using Siamese Neural Networks.	medRxiv	2023
37589995	Deep Ocular Phenotyping Across Primary Open-Angle Glaucoma Genetic Burden.	JAMA Ophthalmol	2023
37996923	TIE1 and TEK signalling, intraocular pressure, and primary open-angle glaucoma: a Mendelian randomization study.	J Transl Med	2023
37645858	Polygenic Risk Score Improves Prediction of Primary Open Angle Glaucoma Onset in the Ocular Hypertension Treatment Study.	medRxiv	2023
37566633	Transcriptomic analysis of the ocular posterior segment completes a cell atlas of the human eye.		2023
37398472	QTL mapping of human retina DNA methylation identifies 87 gene-epigenome interactions in age-related macular degeneration.	Res Sq	2023
37386247	Large-scale multitrait genome-wide association analyses identify hundreds of glaucoma risk loci.	Nat Genet	2023
37292770	Insights into human health from phenome- and genome-wide analyses of UK Biobank retinal optical coherence tomography phenotypes.	medRxiv	2023
35149155	Photoreceptor Layer Thinning Is an Early Biomarker for Age-Related Macular Degeneration: Epidemiologic and Genetic Evidence from UK Biobank OCT Data.	Ophthalmology	2022
35763501	Interaction of background genetic risk, psychotropic medications, and primary angle closure glaucoma in the UK Biobank.	PLoS One	2022
35549429	Single-nucleus cross-tissue molecular reference maps toward understanding disease gene function.	Science	2022
35659450	Erratum to Gene Set Enrichment Analyses Identify Pathways Involved in Genetic Risk for Diabetic Retinopathy. Am J Ophthalmol 2022;233:111-123.	Am J Ophthalmol	2022
34166655	Gene Set Enrichment Analsyes Identify Pathways Involved in Genetic Risk for Diabetic Retinopathy.	Am J Ophthalmol	2022
33499903	Exploiting the GTEx resources to decipher the mechanisms at GWAS loci.	Genome Biol	2021
33627673	Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries.	Nat Commun	2021
33713785	Characteristics of p.Gln368Ter Myocilin Variant and Influence of Polygenic Risk on Glaucoma Penetrance in the UK Biobank.	Ophthalmology	2021
32913072	The impact of sex on gene expression across human tissues.	Science	2020
32231278	Meta-analysis of 542,934 subjects of European ancestry identifies new genes and mechanisms predisposing to refractive error and myopia.	Nat Genet	2020
32913075	Cell type-specific genetic regulation of gene expression across human tissues.	Science	2020
31171663	RNA sequence analysis reveals macroscopic somatic clonal expansion across normal tissues.	Science	2019
30487263	Multiethnic Genome-Wide Association Study of Diabetic Retinopathy Using Liability Threshold Modeling of Duration of Diabetes and Glycemic Control.	Diabetes	2019
29955180	Using an atlas of gene regulation across 44 human tissues to inform complex disease- and trait-associated variation.	Nat Genet	2018
28436984	Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk.	Nat Genet	2017
28714974	Genetic analysis in UK Biobank links insulin resistance and transendothelial migration pathways to coronary artery disease.	Nat Genet	2017
28475861	Widespread Allelic Heterogeneity in Complex Traits.	Am J Hum Genet	2017
27866706	Colocalization of GWAS and eQTL Signals Detects Target Genes.	Am J Hum Genet	2016
27194809	ForestPMPlot: A Flexible Tool for Visualizing Heterogeneity Between Studies in Meta-analysis.	G3: Genes, Genomes, Genetics	2016
26484571	A Novel Approach to High-Quality Postmortem Tissue Procurement: The GTEx Project.	Biopreserv Biobank	2015
25368101	Pathways targeted by antidiabetes drugs are enriched for multiple genes associated with type 2 diabetes risk.	Diabetes	2015
25954002	Human genomics. The human transcriptome across tissues and individuals.	Science	2015
25977570	Systems Genetics Analysis of Genome-Wide Association Study Reveals Novel Associations Between Key Biological Processes and Coronary Artery Disease.	Arterioscler Thromb Vasc Biol	2015
24509480	Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.	Nat Genet	2014
25033284	Integrative genomics reveals novel molecular pathways and gene networks for coronary artery disease.	PLoS Genet	2014
24584071	Loss-of-function mutations in SLC30A8 protect against type 2 diabetes.	Nat Genet	2014
23583979	Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders.	Nat Genet	2013
22238593	A genome-wide association search for type 2 diabetes genes in African Americans.	PLoS One	2012
22479202	Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals.	PLoS Genet	2012
22885922	Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes.	Nat Genet	2012
22904188	Genetic and environmental risk factors in congenital heart disease functionally converge in protein networks driving heart development.	Proc Natl Acad Sci U S A	2012
23236286	Identification of novel type 2 diabetes candidate genes involved in the crosstalk between the mitochondrial and the insulin signaling systems.	PLoS Genet	2012
21962509	The Lin28/let-7 axis regulates glucose metabolism.	Cell	2011
20581827	Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis.	Nat Genet	2010
20881960	Hundreds of variants clustered in genomic loci and biological pathways affect human height.	Nature	2010
20935630	Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index.	Nat Genet	2010
21060860	Common genetic variants and modification of penetrance of BRCA2-associated breast cancer.	PLoS Genet	2010
21060860	Common genetic variants and modification of penetrance of BRCA2-associated breast cancer.	PLoS Genet	2010
21102462	Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies.	Nat Genet	2010