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2016 1
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2020 7
2021 2
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2023 4
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Page 1
Interaction molecular QTL mapping discovers cellular and environmental modifiers of genetic regulatory effects.
Kasela S, Aguet F, Kim-Hellmuth S, Brown BC, Nachun DC, Tracy RP, Durda P, Liu Y, Taylor KD, Johnson WC, Van Den Berg D, Gabriel S, Gupta N, Smith JD, Blackwell TW, Rotter JI, Ardlie KG, Manichaikul A, Rich SS, Barr RG, Lappalainen T. Kasela S, et al. Am J Hum Genet. 2024 Jan 4;111(1):133-149. doi: 10.1016/j.ajhg.2023.11.013. Am J Hum Genet. 2024. PMID: 38181730
Interaction molecular QTL mapping discovers cellular and environmental modifiers of genetic regulatory effects.
Kasela S, Aguet F, Kim-Hellmuth S, Brown BC, Nachun DC, Tracy RP, Durda P, Liu Y, Taylor KD, Craig Johnson W, Berg DVD, Gabriel S, Gupta N, Smith JD, Blackwell TW, Rotter JI, Ardlie KG, Manichaikul A, Rich SS, Graham Barr R, Lappalainen T. Kasela S, et al. bioRxiv [Preprint]. 2023 Jun 29:2023.06.26.546528. doi: 10.1101/2023.06.26.546528. bioRxiv. 2023. PMID: 37425716 Free PMC article. Updated. Preprint.
Genetic control of mRNA splicing as a potential mechanism for incomplete penetrance of rare coding variants.
Einson J, Glinos D, Boerwinkle E, Castaldi P, Darbar D, de Andrade M, Ellinor P, Fornage M, Gabriel S, Germer S, Gibbs R, Hersh CP, Johnsen J, Kaplan R, Konkle BA, Kooperberg C, Nassir R, Loos RJF, Meyers DA, Mitchell BD, Psaty B, Vasan RS, Rich SS, Rienstra M, Rotter JI, Saferali A, Shoemaker MB, Silverman E, Smith AV; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium; Mohammadi P, Castel SE, Iossifov I, Lappalainen T. Einson J, et al. Genetics. 2023 Aug 9;224(4):iyad115. doi: 10.1093/genetics/iyad115. Genetics. 2023. PMID: 37348055
Discovery of target genes and pathways at GWAS loci by pooled single-cell CRISPR screens.
Morris JA, Caragine C, Daniloski Z, Domingo J, Barry T, Lu L, Davis K, Ziosi M, Glinos DA, Hao S, Mimitou EP, Smibert P, Roeder K, Katsevich E, Lappalainen T, Sanjana NE. Morris JA, et al. Science. 2023 May 19;380(6646):eadh7699. doi: 10.1126/science.adh7699. Epub 2023 May 19. Science. 2023. PMID: 37141313 Free PMC article.
Genetic control of mRNA splicing as a potential mechanism for incomplete penetrance of rare coding variants.
Einson J, Glinos D, Boerwinkle E, Castaldi P, Darbar D, de Andrade M, Ellinor P, Fornage M, Gabriel S, Germer S, Gibbs R, Hersh CP, Johnsen J, Kaplan R, Konkle BA, Kooperberg C, Nassir R, Loos RJF, Meyers DA, Mitchell BD, Psaty B, Vasan RS, Rich SS, Rienstra M, Rotter JI, Saferali A, Shoemaker MB, Silverman E, Smith AV; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium; Mohammadi P, Castel SE, Iossifov I, Lappalainen T. Einson J, et al. bioRxiv [Preprint]. 2023 Jan 31:2023.01.31.526505. doi: 10.1101/2023.01.31.526505. bioRxiv. 2023. PMID: 36778406 Free PMC article. Updated. Preprint.
Transcriptome variation in human tissues revealed by long-read sequencing.
Glinos DA, Garborcauskas G, Hoffman P, Ehsan N, Jiang L, Gokden A, Dai X, Aguet F, Brown KL, Garimella K, Bowers T, Costello M, Ardlie K, Jian R, Tucker NR, Ellinor PT, Harrington ED, Tang H, Snyder M, Juul S, Mohammadi P, MacArthur DG, Lappalainen T, Cummings BB. Glinos DA, et al. Nature. 2022 Aug;608(7922):353-359. doi: 10.1038/s41586-022-05035-y. Epub 2022 Aug 3. Nature. 2022. PMID: 35922509 Free PMC article.
From variant to function in human disease genetics.
Lappalainen T, MacArthur DG. Lappalainen T, et al. Science. 2021 Sep 24;373(6562):1464-1468. doi: 10.1126/science.abi8207. Epub 2021 Sep 23. Science. 2021. PMID: 34554789 Review.
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.
20 results