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Page 1
Integrating genetic regulation and single-cell expression with GWAS prioritizes causal genes and cell types for glaucoma.
Hamel AR, Yan W, Rouhana JM, Monovarfeshani A, Jiang X, Mehta PA, Advani J, Luo Y, Liang Q, Rajasundaram S, Shrivastava A, Duchinski K, Mantena S, Wang J, van Zyl T, Pasquale LR, Swaroop A, Gharahkhani P, Khawaja AP, MacGregor S; International Glaucoma Genetics Consortium (IGGC); Chen R, Vitart V, Sanes JR, Wiggs JL, Segrè AV. Hamel AR, et al. Nat Commun. 2024 Jan 9;15(1):396. doi: 10.1038/s41467-023-44380-y. Nat Commun. 2024. PMID: 38195602 Free PMC article.
The impact of sex on gene expression across human tissues.
Oliva M, Muñoz-Aguirre M, Kim-Hellmuth S, Wucher V, Gewirtz ADH, Cotter DJ, Parsana P, Kasela S, Balliu B, Viñuela A, Castel SE, Mohammadi P, Aguet F, Zou Y, Khramtsova EA, Skol AD, Garrido-Martín D, Reverter F, Brown A, Evans P, Gamazon ER, Payne A, Bonazzola R, Barbeira AN, Hamel AR, Martinez-Perez A, Soria JM; GTEx Consortium; Pierce BL, Stephens M, Eskin E, Dermitzakis ET, Segrè AV, Im HK, Engelhardt BE, Ardlie KG, Montgomery SB, Battle AJ, Lappalainen T, Guigó R, Stranger BE. Oliva M, et al. Among authors: hamel ar. Science. 2020 Sep 11;369(6509):eaba3066. doi: 10.1126/science.aba3066. Science. 2020. PMID: 32913072 Free PMC article.
Cell type-specific genetic regulation of gene expression across human tissues.
Kim-Hellmuth S, Aguet F, Oliva M, Muñoz-Aguirre M, Kasela S, Wucher V, Castel SE, Hamel AR, Viñuela A, Roberts AL, Mangul S, Wen X, Wang G, Barbeira AN, Garrido-Martín D, Nadel BB, Zou Y, Bonazzola R, Quan J, Brown A, Martinez-Perez A, Soria JM; GTEx Consortium; Getz G, Dermitzakis ET, Small KS, Stephens M, Xi HS, Im HK, Guigó R, Segrè AV, Stranger BE, Ardlie KG, Lappalainen T. Kim-Hellmuth S, et al. Among authors: hamel ar. Science. 2020 Sep 11;369(6509):eaaz8528. doi: 10.1126/science.aaz8528. Science. 2020. PMID: 32913075 Free PMC article.
Exploiting the GTEx resources to decipher the mechanisms at GWAS loci.
Barbeira AN, Bonazzola R, Gamazon ER, Liang Y, Park Y, Kim-Hellmuth S, Wang G, Jiang Z, Zhou D, Hormozdiari F, Liu B, Rao A, Hamel AR, Pividori MD, Aguet F; GTEx GWAS Working Group; Bastarache L, Jordan DM, Verbanck M, Do R; GTEx Consortium; Stephens M, Ardlie K, McCarthy M, Montgomery SB, Segrè AV, Brown CD, Lappalainen T, Wen X, Im HK. Barbeira AN, et al. Among authors: hamel ar. Genome Biol. 2021 Jan 26;22(1):49. doi: 10.1186/s13059-020-02252-4. Genome Biol. 2021. PMID: 33499903 Free PMC article.
Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries.
Gharahkhani P, Jorgenson E, Hysi P, Khawaja AP, Pendergrass S, Han X, Ong JS, Hewitt AW, Segrè AV, Rouhana JM, Hamel AR, Igo RP Jr, Choquet H, Qassim A, Josyula NS, Cooke Bailey JN, Bonnemaijer PWM, Iglesias A, Siggs OM, Young TL, Vitart V, Thiadens AAHJ, Karjalainen J, Uebe S, Melles RB, Nair KS, Luben R, Simcoe M, Amersinghe N, Cree AJ, Hohn R, Poplawski A, Chen LJ, Rong SS, Aung T, Vithana EN; NEIGHBORHOOD consortium; ANZRAG consortium; Biobank Japan project; FinnGen study; UK Biobank Eye and Vision Consortium; GIGA study group; 23 and Me Research Team; Tamiya G, Shiga Y, Yamamoto M, Nakazawa T, Currant H, Birney E, Wang X, Auton A, Lupton MK, Martin NG, Ashaye A, Olawoye O, Williams SE, Akafo S, Ramsay M, Hashimoto K, Kamatani Y, Akiyama M, Momozawa Y, Foster PJ, Khaw PT, Morgan JE, Strouthidis NG, Kraft P, Kang JH, Pang CP, Pasutto F, Mitchell P, Lotery AJ, Palotie A, van Duijn C, Haines JL, Hammond C, Pasquale LR, Klaver CCW, Hauser M, Khor CC, Mackey DA, Kubo M, Cheng CY, Craig JE, MacGregor S, Wiggs JL. Gharahkhani P, et al. Among authors: hamel ar. Nat Commun. 2021 Feb 24;12(1):1258. doi: 10.1038/s41467-020-20851-4. Nat Commun. 2021. PMID: 33627673 Free PMC article.
Large-scale multitrait genome-wide association analyses identify hundreds of glaucoma risk loci.
Han X, Gharahkhani P, Hamel AR, Ong JS, Rentería ME, Mehta P, Dong X, Pasutto F, Hammond C, Young TL, Hysi P, Lotery AJ, Jorgenson E, Choquet H, Hauser M, Cooke Bailey JN, Nakazawa T, Akiyama M, Shiga Y, Fuller ZL, Wang X, Hewitt AW, Craig JE, Pasquale LR, Mackey DA, Wiggs JL, Khawaja AP, Segrè AV; 23andMe Research Team; International Glaucoma Genetics Consortium; MacGregor S. Han X, et al. Among authors: hamel ar. Nat Genet. 2023 Jul;55(7):1116-1125. doi: 10.1038/s41588-023-01428-5. Epub 2023 Jun 29. Nat Genet. 2023. PMID: 37386247 Free PMC article.
QTL mapping of human retina DNA methylation identifies 87 gene-epigenome interactions in age-related macular degeneration.
Advani J, Corso-Diaz X, Kwicklis M, van Asten F, Ratnapriya R, Mehta P, Hamel A, Mahrotra S, Segrè A, Kiel C, Strunz T, Weber B, Chew E, Hernandez D, Montezuma S, Ferrington D, Swaroop A. Advani J, et al. Res Sq [Preprint]. 2023 Jun 16:rs.3.rs-3011096. doi: 10.21203/rs.3.rs-3011096/v1. Res Sq. 2023. Update in: Nat Commun. 2024 Mar 4;15(1):1972. doi: 10.1038/s41467-024-46063-8 PMID: 37398472 Free PMC article. Updated. Preprint.
QTL mapping of human retina DNA methylation identifies 87 gene-epigenome interactions in age-related macular degeneration.
Advani J, Mehta PA, Hamel AR, Mehrotra S, Kiel C, Strunz T, Corso-Díaz X, Kwicklis M, van Asten F, Ratnapriya R, Chew EY, Hernandez DG, Montezuma SR, Ferrington DA, Weber BHF, Segrè AV, Swaroop A. Advani J, et al. Among authors: hamel ar. Nat Commun. 2024 Mar 4;15(1):1972. doi: 10.1038/s41467-024-46063-8. Nat Commun. 2024. PMID: 38438351 Free PMC article.
Genome-wide meta-analysis identifies 22 loci for normal tension glaucoma with significant overlap with high tension glaucoma.
Diaz-Torres S, He W, Yu R; IGGC International Glaucoma Genetics Consortium; Khawaja AP, Hammond CJ, Hysi PG, Pasquale LR, Wu Y, Kubo M, Akiyama M, Aung T, Cheng CY, Khor CC, Kraft P, Kang JH, Hewitt AW, Mackey DA, Craig JE, Wiggs JL, Ong JS, MacGregor S, Gharahkhani P. Diaz-Torres S, et al. Nat Commun. 2024 Nov 17;15(1):9959. doi: 10.1038/s41467-024-54301-2. Nat Commun. 2024. PMID: 39551815 Free PMC article.
Population-scale tissue transcriptomics maps long non-coding RNAs to complex disease.
de Goede OM, Nachun DC, Ferraro NM, Gloudemans MJ, Rao AS, Smail C, Eulalio TY, Aguet F, Ng B, Xu J, Barbeira AN, Castel SE, Kim-Hellmuth S, Park Y, Scott AJ, Strober BJ; GTEx Consortium; Brown CD, Wen X, Hall IM, Battle A, Lappalainen T, Im HK, Ardlie KG, Mostafavi S, Quertermous T, Kirkegaard K, Montgomery SB. de Goede OM, et al. Cell. 2021 May 13;184(10):2633-2648.e19. doi: 10.1016/j.cell.2021.03.050. Epub 2021 Apr 16. Cell. 2021. PMID: 33864768 Free PMC article.
18 results