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Multiple causal variants underlie genetic associations in humans.
Abell NS, DeGorter MK, Gloudemans MJ, Greenwald E, Smith KS, He Z, Montgomery SB. Abell NS, et al. Among authors: montgomery sb. Science. 2022 Mar 18;375(6586):1247-1254. doi: 10.1126/science.abj5117. Epub 2022 Mar 17. Science. 2022. PMID: 35298243 Free PMC article.
Africa-specific human genetic variation near CHD1L associates with HIV-1 load.
McLaren PJ, Porreca I, Iaconis G, Mok HP, Mukhopadhyay S, Karakoc E, Cristinelli S, Pomilla C, Bartha I, Thorball CW, Tough RH, Angelino P, Kiar CS, Carstensen T, Fatumo S, Porter T, Jarvis I, Skarnes WC, Bassett A, DeGorter MK, Sathya Moorthy MP, Tuff JF, Kim EY, Walter M, Simons LM, Bashirova A, Buchbinder S, Carrington M, Cossarizza A, De Luca A, Goedert JJ, Goldstein DB, Haas DW, Herbeck JT, Johnson EO, Kaleebu P, Kilembe W, Kirk GD, Kootstra NA, Kral AH, Lambotte O, Luo M, Mallal S, Martinez-Picado J, Meyer L, Miro JM, Moodley P, Motala AA, Mullins JI, Nam K, Obel N, Pirie F, Plummer FA, Poli G, Price MA, Rauch A, Theodorou I, Trkola A, Walker BD, Winkler CA, Zagury JF, Montgomery SB, Ciuffi A, Hultquist JF, Wolinsky SM, Dougan G, Lever AML, Gurdasani D, Groom H, Sandhu MS, Fellay J. McLaren PJ, et al. Among authors: montgomery sb. Nature. 2023 Aug;620(7976):1025-1030. doi: 10.1038/s41586-023-06370-4. Epub 2023 Aug 2. Nature. 2023. PMID: 37532928 Free PMC article.
Author Correction: Africa-specific human genetic variation near CHD1L associates with HIV-1 load.
McLaren PJ, Porreca I, Iaconis G, Mok HP, Mukhopadhyay S, Karakoc E, Cristinelli S, Pomilla C, Bartha I, Thorball CW, Tough RH, Angelino P, Kiar CS, Carstensen T, Fatumo S, Porter T, Jarvis I, Skarnes WC, Bassett A, DeGorter MK, Sathya Moorthy MP, Tuff JF, Kim EY, Walter M, Simons LM, Bashirova A, Buchbinder S, Carrington M, Cossarizza A, De Luca A, Goedert JJ, Goldstein DB, Haas DW, Herbeck JT, Johnson EO, Kaleebu P, Kilembe W, Kirk GD, Kootstra NA, Kral AH, Lambotte O, Luo M, Mallal S, Martinez-Picado J, Meyer L, Miro JM, Moodley P, Motala AA, Mullins JI, Nam K, Obel N, Pirie F, Plummer FA, Poli G, Price MA, Rauch A, Theodorou I, Trkola A, Walker BD, Winkler CA, Zagury JF, Montgomery SB, Ciuffi A, Hultquist JF, Wolinsky SM, Dougan G, Lever AML, Gurdasani D, Groom H, Sandhu MS, Fellay J. McLaren PJ, et al. Among authors: montgomery sb. Nature. 2023 Sep;621(7979):E42. doi: 10.1038/s41586-023-06591-7. Nature. 2023. PMID: 37670157 No abstract available.
A global reference for human genetic variation.
1000 Genomes Project Consortium; Auton A, Brooks LD, Durbin RM, Garrison EP, Kang HM, Korbel JO, Marchini JL, McCarthy S, McVean GA, Abecasis GR. 1000 Genomes Project Consortium, et al. Nature. 2015 Oct 1;526(7571):68-74. doi: 10.1038/nature15393. Nature. 2015. PMID: 26432245 Free PMC article.
Genetic effects on gene expression across human tissues.
GTEx Consortium; Laboratory, Data Analysis &Coordinating Center (LDACC)—Analysis Working Group; Statistical Methods groups—Analysis Working Group; Enhancing GTEx (eGTEx) groups; NIH Common Fund; NIH/NCI; NIH/NHGRI; NIH/NIMH; NIH/NIDA; Biospecimen Collection Source Site—NDRI; Biospecimen Collection Source Site—RPCI; Biospecimen Core Resource—VARI; Brain Bank Repository—University of Miami Brain Endowment Bank; Leidos Biomedical—Project Management; ELSI Study; Genome Browser Data Integration &Visualization—EBI; Genome Browser Data Integration &Visualization—UCSC Genomics Institute, University of California Santa Cruz; Lead analysts:; Laboratory, Data Analysis &Coordinating Center (LDACC):; NIH program management:; Biospecimen collection:; Pathology:; eQTL manuscript working group:; Battle A, Brown CD, Engelhardt BE, Montgomery SB. GTEx Consortium, et al. Among authors: montgomery sb. Nature. 2017 Oct 11;550(7675):204-213. doi: 10.1038/nature24277. Nature. 2017. PMID: 29022597 Free PMC article.
Pathologic gene network rewiring implicates PPP1R3A as a central regulator in pressure overload heart failure.
Cordero P, Parikh VN, Chin ET, Erbilgin A, Gloudemans MJ, Shang C, Huang Y, Chang AC, Smith KS, Dewey F, Zaleta K, Morley M, Brandimarto J, Glazer N, Waggott D, Pavlovic A, Zhao M, Moravec CS, Tang WHW, Skreen J, Malloy C, Hannenhalli S, Li H, Ritter S, Li M, Bernstein D, Connolly A, Hakonarson H, Lusis AJ, Margulies KB, Depaoli-Roach AA, Montgomery SB, Wheeler MT, Cappola T, Ashley EA. Cordero P, et al. Among authors: montgomery sb. Nat Commun. 2019 Jun 24;10(1):2760. doi: 10.1038/s41467-019-10591-5. Nat Commun. 2019. PMID: 31235787 Free PMC article.
FAM13A affects body fat distribution and adipocyte function.
Fathzadeh M, Li J, Rao A, Cook N, Chennamsetty I, Seldin M, Zhou X, Sangwung P, Gloudemans MJ, Keller M, Attie A, Yang J, Wabitsch M, Carcamo-Orive I, Tada Y, Lusis AJ, Shin MK, Molony CM, McLaughlin T, Reaven G, Montgomery SB, Reilly D, Quertermous T, Ingelsson E, Knowles JW. Fathzadeh M, et al. Among authors: montgomery sb. Nat Commun. 2020 Mar 19;11(1):1465. doi: 10.1038/s41467-020-15291-z. Nat Commun. 2020. PMID: 32193374 Free PMC article.
Properties of structural variants and short tandem repeats associated with gene expression and complex traits.
Jakubosky D, D'Antonio M, Bonder MJ, Smail C, Donovan MKR, Young Greenwald WW, Matsui H; i2QTL Consortium; D'Antonio-Chronowska A, Stegle O, Smith EN, Montgomery SB, DeBoever C, Frazer KA. Jakubosky D, et al. Among authors: montgomery sb. Nat Commun. 2020 Jun 10;11(1):2927. doi: 10.1038/s41467-020-16482-4. Nat Commun. 2020. PMID: 32522982 Free PMC article.
238 results