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A. Segrè · SciRah

Researcher profile · Semantic Scholar

A. Segrè

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A. Segrè — researcher profile on SciRah

h-index: 40
Works: 108
Citations: 24K

Most-cited papers

The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans
K. Ardlie, D. DeLuca, A. Segrè, T. Sullivan +129 more
2015Science4,632 citations Open access
Semantic Scholar
Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes
Andrew P. Morris, B. Voight, T. Teslovich, T. Ferreira +200 more
2012Nature Genetics2,000 citations Open access
Semantic Scholar
Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis
B. Voight, L. Scott, V. Steinthorsdottir, Andrew P. Morris +154 more
2010Nature Genetics1,867 citations Open access
Semantic Scholar
The human transcriptome across tissues and individuals
Marta Melé, P. Ferreira, F. Reverter, D. DeLuca +18 more
2015Science1,249 citations Open access
Semantic Scholar
Exploring the phenotypic consequences of tissue specific gene expression variation inferred from GWAS summary statistics
A. Barbeira, Scott P. Dickinson, Rodrigo Bonazzola, Jiamao Zheng +241 more
2016Nature Communications1,077 citations Open access
Semantic Scholar
Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility
A. Mahajan, M. Go, Wei-Hua Zhang, J. Below +328 more
2014Nature Genetics1,020 citations Open access
Semantic Scholar
The Lin28/let-7 axis regulates glucose metabolism
Hao Zhu, Ng Shyh-Chang, A. Segrè, Gen Shinoda +12 more
2011Cell906 citations Open access
Semantic Scholar
A Novel Approach to High-Quality Postmortem Tissue Procurement: The GTEx Project
L. Carithers, K. Ardlie, M. Barcus, P. Branton +23 more
2015Biopreservation and Biobanking796 citations Open access
Semantic Scholar
Colocalization of GWAS and eQTL Signals Detects Target Genes
Farhad Hormozdiari, M. van de Bunt, A. Segrè, Xiao Li +6 more
2016bioRxiv693 citations Open access
Semantic Scholar
The impact of sex on gene expression across human tissues
Meritxell Oliva, Manuel Muñoz-Aguirre, S. Kim-Hellmuth, Valentin Wucher +36 more
2020Science643 citations Open access
Semantic Scholar
Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk
F. Day, D. Thompson, H. Helgason, D. Chasman +212 more
2017Nature Genetics534 citations Open access
Semantic Scholar
Loss-of-function mutations in SLC30A8 protect against type 2 diabetes
J. Flannick, G. Thorleifsson, N. Beer, S. Jacobs +76 more
2014Nature Genetics464 citations Open access
Semantic Scholar
Using an atlas of gene regulation across 44 human tissues to inform complex disease- and trait-associated variation
E. Gamazon, A. Segrè, M. van de Bunt, X. Wen +15 more
2018Nature Genetics417 citations Open access
Semantic Scholar
A Quantitative Proteome Map of the Human Body
Lihua Jiang, Meng Wang, Shin Lin, Rui-Qi Jian +170 more
2020Cell407 citations Open access
Semantic Scholar
Association analyses of 249,796 individuals reveal eighteen new loci associated with body mass index
Elizabeth K. Speliotes, C. Willer, S. Berndt, K. Monda +371 more
2010Nature Genetics376 citations Open access
Semantic Scholar
Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries
P. Gharahkhani, E. Jorgenson, P. Hysi, A. Khawaja +75 more
2021Nature Communications366 citations Open access
Semantic Scholar
Single-nucleus cross-tissue molecular reference maps toward understanding disease gene function
G. Eraslan, E. Drokhlyansky, Shankara K. Anand, Evgenij Fiskin +22 more
2022Science353 citations Open access
Semantic Scholar
Cell type specific genetic regulation of gene expression across human tissues
S. Kim-Hellmuth, F. Aguet, Meritxell Oliva, Manuel Muñoz-Aguirre +29 more
2019Science337 citations Open access
Semantic Scholar
Meta-analysis of 542,934 subjects of European ancestry identifies new genes and mechanisms predisposing to refractive error and myopia
P. Hysi, H. Choquet, A. Khawaja, R. Wojciechowski +26 more
2020Nature Genetics302 citations Open access
Semantic Scholar
The impact of rare variation on gene expression across tissues
Xin Li, Yungil Kim, Emily K. Tsang, Joe R. Davis +71 more
2016Nature253 citations Open access
Semantic Scholar
Genetic Analysis in UK Biobank Links Insulin Resistance and Transendothelial Migration Pathways to Coronary Artery Disease
D. Klarin, Q. Zhu, C. Emdin, M. Chaffin +13 more
2017Nature Genetics211 citations Open access
Semantic Scholar
Genetic effects on gene expression across human tissues
A. Brown, S. Castel, Joe R. Davis, Brian Jo +89 more
2018200 citations
Semantic Scholar
Synchronized age-related gene expression changes across multiple tissues in human and the link to complex diseases
Jia-Liang Yang, Tao Huang, F. Petralia, Quan Long +130 more
2015Scientific Reports198 citations Open access
Semantic Scholar
Integrative Genomics Reveals Novel Molecular Pathways and Gene Networks for Coronary Artery Disease
V. Mäkinen, M. Civelek, Qingying Meng, Bin Zhang +27 more
2014PLoS Genetics198 citations Open access
Semantic Scholar
Exploiting the GTEx resources to decipher the mechanisms at GWAS loci
A. Barbeira, Rodrigo Bonazzola, E. Gamazon, Yanyu Liang +24 more
2021Genome Biology184 citations Open access
Semantic Scholar
Common Genetic Variants and Modification of Penetrance of BRCA2-Associated Breast Cancer
M. Gaudet, Tomas Kirchhoff, T. Green, J. Vijai +113 more
2010PLoS Genetics156 citations Open access
Semantic Scholar
Genetic and environmental risk factors in congenital heart disease functionally converge in protein networks driving heart development
K. Lage, S. Greenway, J. Rosenfeld, H. Wakimoto +16 more
2012Proceedings of the National Academy of Sciences of the United States of America145 citations Open access
Semantic Scholar
Large-scale multitrait genome-wide association analyses identify hundreds of glaucoma risk loci
Xi-Kun Han, P. Gharahkhani, A. Hamel, Jue-Sheng Ong +25 more
2023Nature Genetics127 citations Open access
Semantic Scholar
Widespread dose-dependent effects of RNA expression and splicing on complex diseases and traits
A. Barbeira, Rodrigo Bonazzola, E. Gamazon, Yanyu Liang +24 more
2019bioRxiv117 citations Open access
Semantic Scholar
Widespread allelic heterogeneity in complex traits
Farhad Hormozdiari, A. Zhu, Gleb Kichaev, A. Segrè +7 more
2016bioRxiv84 citations Open access
Semantic Scholar
Local genetic effects on gene expression across 44 human tissues
F. Aguet, A. Brown, S. Castel, Joe R. Davis +46 more
2016bioRxiv74 citations Open access
Semantic Scholar
Systems Genetics Analysis of GWAS reveals Novel Associations between Key Biological Processes and Coronary Artery Disease
Sujoy Ghosh, Juan C. Vivar, C. Nelson, C. Willenborg +21 more
2015Arteriosclerosis, Thrombosis and Vascular Biology72 citations Open access
Semantic Scholar
Photoreceptor layer thinning is an early biomarker for age-related macular degeneration: Epidemiological and genetic evidence from UK Biobank optical coherence tomography data
S. Zekavat, S. Sekimitsu, Yi-Xuan Ye, V. Raghu +8 more
2022Ophthalmology (Rochester, Minn.)70 citations Open access
Semantic Scholar
Transcriptomic analysis of the ocular posterior segment completes a cell atlas of the human eye
A. Monavarfeshani, Wenjun Yan, Chris M. Pappas, Kenechukwu A. Odenigbo +5 more
2023bioRxiv57 citations Open access
Semantic Scholar
Leveraging Cross-Species Transcription Factor Binding Site Patterns: From Diabetes Risk Loci to Disease Mechanisms
Melina Claussnitzer, S. Dankel, B. Klocke, H. Grallert +188 more
2014Cell54 citations Open access
Semantic Scholar
Integrating genetic regulation and single-cell expression with GWAS prioritizes causal genes and cell types for glaucoma
A. Hamel, Wenjun Yan, J. Rouhana, Aboozar Monovarfeshani +66 more
2024Nature Communications46 citations Open access
Semantic Scholar
Identification of heart rate–associated loci and their effects on cardiac conduction and rhythm disorders
M. den Hoed, M. Eijgelsheim, T. Esko, B. Brundel +264 more
2013Nature Genetics39 citations Open access
Semantic Scholar
Phenome- and genome-wide analyses of retinal optical coherence tomography images identify links between ocular and systemic health
S. Zekavat, Saman Doroodgar Jorshery, F. Rauscher, K. Horn +20 more
2024Science Translational Medicine38 citations
Semantic Scholar
QTL mapping of human retina DNA methylation identifies 87 gene-epigenome interactions in age-related macular degeneration
Jayshree Advani, P. Mehta, A. Hamel, Sudeep Mehrotra +13 more
2024Nature Communications36 citations Open access
Semantic Scholar
ForestPMPlot: A Flexible Tool for Visualizing Heterogeneity Between Studies in Meta-analysis
E. Kang, YuRang Park, Xiao Li, A. Segrè +2 more
2016G3: Genes, Genomes, Genetics35 citations Open access
Semantic Scholar
Identification of Novel Type 2 Diabetes Candidate Genes Involved in the Crosstalk between the Mitochondrial and the Insulin Signaling Systems
J. Mercader, Montserrat Puiggròs, A. Segrè, E. Planet +13 more
2012PLoS Genetics35 citations Open access
Semantic Scholar
Co-expression networks reveal the tissue-specific regulation of transcription and splicing
K. Ardlie, B. Cummings, T. Ellen, I M Gelfand +91 more
201734 citations
Semantic Scholar
Germline determinants of the somatic mutation landscape in 2,642 cancer genomes
Sebastian M. Waszak, Grace Tiao, Bin Zhu, T. Rausch +87 more
2017bioRxiv34 citations Open access
Semantic Scholar
Polygenic Risk Scores for Glaucoma Onset in the Ocular Hypertension Treatment Study.
Rishabh K. Singh, Yan Zhao, T. Elze, J. Fingert +8 more
2024JAMA ophthalmology33 citations Open access
Semantic Scholar
Pathways Targeted by Antidiabetes Drugs Are Enriched for Multiple Genes Associated With Type 2 Diabetes Risk
A. Segrè, N. Wei, D. Altshuler, J. Florez
2014Diabetes31 citations Open access
Semantic Scholar
Deep Ocular Phenotyping Across Primary Open-Angle Glaucoma Genetic Burden.
S. Sekimitsu, D. Xiang, Sophie Smith, K. Curran +12 more
2023JAMA ophthalmology30 citations Open access
Semantic Scholar
Single-nucleus cross-tissue molecular reference maps to decipher disease gene function
G. Eraslan, E. Drokhlyansky, Shankara K. Anand, Ayshwarya Subramanian +20 more
2021bioRxiv30 citations Open access
Semantic Scholar
A systematic survey of human tissue-specific gene expression and splicing reveals new opportunities for therapeutic target identification and evaluation
Robert Yang, J. Quan, Reza Sodaei, F. Aguet +9 more
2018bioRxiv30 citations Open access
Semantic Scholar
The Clinical Usefulness of a Glaucoma Polygenic Risk Score in 4 Population-Based European Ancestry Cohorts
V. D. de Vries, Akiko Hanyuda, J. Vergroesen, R. Do +15 more
2024Ophthalmology (Rochester, Minn.)28 citations Open access
Semantic Scholar
Corrigendum: Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis
B. Voight, L. Scott, V. Steinthorsdottir, Andrew P. Morris +154 more
2011Nature Genetics28 citations Open access
Semantic Scholar

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