Large-scale exome sequencing study implicates both developmental and functional changes in the neurobiology of autism FK Satterstrom, JA Kosmicki, J Wang, MS Breen, S De Rubeis, JY An, ... Cell 180 (3), 568-584. e23, 2020 | 1956 | 2020 |
Shared molecular neuropathology across major psychiatric disorders parallels polygenic overlap MJ Gandal, JR Haney, NN Parikshak, V Leppa, G Ramaswami, C Hartl, ... Science 359 (6376), 693-697, 2018 | 1041 | 2018 |
Mapping cis- and trans-regulatory effects across multiple tissues in twins E Grundberg, KS Small, ÅK Hedman, AC Nica, A Buil, S Keildson, JT Bell, ... Nature genetics 44 (10), 1084-1089, 2012 | 894 | 2012 |
Fast and efficient QTL mapper for thousands of molecular phenotypes H Ongen, A Buil, AA Brown, ET Dermitzakis, O Delaneau Bioinformatics 32 (10), 1479-1485, 2016 | 517 | 2016 |
Passive and active DNA methylation and the interplay with genetic variation in gene regulation M Gutierrez-Arcelus, T Lappalainen, SB Montgomery, A Buil, H Ongen, ... elife 2, e00523, 2013 | 515 | 2013 |
Genome-Wide Association Study in Asian Populations Identifies Variants in ETS1 and WDFY4 Associated with Systemic Lupus Erythematosus W Yang, N Shen, DQ Ye, Q Liu, Y Zhang, XX Qian, N Hirankarn, D Ying, ... PLoS genetics 6 (2), e1000841, 2010 | 464 | 2010 |
Global analysis of DNA methylation variation in adipose tissue from twins reveals links to disease-associated variants in distal regulatory elements E Grundberg, E Meduri, JK Sandling, ÅK Hedman, S Keildson, A Buil, ... The American Journal of Human Genetics 93 (5), 876-890, 2013 | 391 | 2013 |
Cigarette smoking reduces DNA methylation levels at multiple genomic loci but the effect is partially reversible upon cessation LG Tsaprouni, TP Yang, J Bell, KJ Dick, S Kanoni, J Nisbet, A Vinuela, ... Epigenetics 9 (10), 1382-1396, 2014 | 384 | 2014 |
Quantitative variability of 342 plasma proteins in a human twin population Y Liu, A Buil, BC Collins, LCJ Gillet, LC Blum, LY Cheng, O Vitek, ... Molecular systems biology 11 (2), 786, 2015 | 369 | 2015 |
Predisposition to atypical hemolytic uremic syndrome involves the concurrence of different susceptibility alleles in the regulators of complement activation gene cluster in 1q32 J Esparza-Gordillo, EG Jorge, A Buil, LC Berges, M Lopez-Trascasa, ... Human Molecular Genetics 14 (5), 703-712, 2005 | 345 | 2005 |
Gene expression changes with age in skin, adipose tissue, blood and brain D Glass, A Viñuela, MN Davies, A Ramasamy, L Parts, D Knowles, ... Genome biology 14, 1-12, 2013 | 309 | 2013 |
Genome-wide association analysis identifies TXNRD2, ATXN2 and FOXC1 as susceptibility loci for primary open-angle glaucoma JNC Bailey, SJ Loomis, JH Kang, RR Allingham, P Gharahkhani, CC Khor, ... Nature genetics 48 (2), 189-194, 2016 | 278 | 2016 |
Gene-gene and gene-environment interactions detected by transcriptome sequence analysis in twins A Buil, AA Brown, T Lappalainen, A Vinuela, MN Davies, HF Zheng, ... Nature genetics 47 (1), 88-91, 2015 | 243 | 2015 |
Tissue-specific effects of genetic and epigenetic variation on gene regulation and splicing M Gutierrez-Arcelus, H Ongen, T Lappalainen, SB Montgomery, A Buil, ... PLoS genetics 11 (1), e1004958, 2015 | 241 | 2015 |
Tensor decomposition for multiple-tissue gene expression experiments V Hore, A Vinuela, A Buil, J Knight, MI McCarthy, K Small, J Marchini Nature genetics 48 (9), 1094-1100, 2016 | 232 | 2016 |
Genetic and environmental factors influencing the human factor H plasma levels J Esparza-Gordillo, JM Soria, A Buil, L Almasy, J Blangero, J Fontcuberta, ... Immunogenetics 56, 77-82, 2004 | 228 | 2004 |
A genome-wide association study of shared risk across psychiatric disorders implicates gene regulation during fetal neurodevelopment AJ Schork, H Won, V Appadurai, R Nudel, M Gandal, O Delaneau, ... Nature neuroscience 22 (3), 353-361, 2019 | 208 | 2019 |
Regulatory variants at KLF14 influence type 2 diabetes risk via a female-specific effect on adipocyte size and body composition KS Small, M Todorčević, M Civelek, JS El-Sayed Moustafa, X Wang, ... Nature genetics 50 (4), 572-580, 2018 | 176 | 2018 |
Cis and trans effects of human genomic variants on gene expression J Bryois, A Buil, DM Evans, JP Kemp, SB Montgomery, DF Conrad, KM Ho, ... PLoS genetics 10 (7), e1004461, 2014 | 169 | 2014 |
Evaluation of chromatin accessibility in prefrontal cortex of individuals with schizophrenia J Bryois, ME Garrett, L Song, A Safi, P Giusti-Rodriguez, GD Johnson, ... Nature communications 9 (1), 3121, 2018 | 168 | 2018 |