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Year Number of Results
2017 5
2018 3
2019 4
2020 3
2021 5
2022 6
2023 7
2024 1

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32 results

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Page 1
ANGPTL3 Deficiency and Risk of Hepatic Steatosis.
D'Erasmo L, Di Martino M, Neufeld T, Fraum TJ, Kang CJ, Burks KH, Di Costanzo A, Minicocci I, Bini S, Maranghi M, Pigna G, Labbadia G, Zheng J, Fierro D, Montali A, Ceci F, Catalano C, Davidson NO, Lucisano G, Nicolucci A, Arca M, Stitziel NO. D'Erasmo L, et al. Circulation. 2023 Nov 7;148(19):1479-1489. doi: 10.1161/CIRCULATIONAHA.123.065866. Epub 2023 Sep 15. Circulation. 2023. PMID: 37712257
The emerging Janus face of SVEP1 in development and disease.
Elenbaas JS, Jung IH, Coler-Reilly A, Lee PC, Alisio A, Stitziel NO. Elenbaas JS, et al. Trends Mol Med. 2023 Nov;29(11):939-950. doi: 10.1016/j.molmed.2023.08.002. Epub 2023 Sep 4. Trends Mol Med. 2023. PMID: 37673700 Review.
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
SVEP1 is an endogenous ligand for the orphan receptor PEAR1.
Elenbaas JS, Pudupakkam U, Ashworth KJ, Kang CJ, Patel V, Santana K, Jung IH, Lee PC, Burks KH, Amrute JM, Mecham RP, Halabi CM, Alisio A, Di Paola J, Stitziel NO. Elenbaas JS, et al. Nat Commun. 2023 Feb 15;14(1):850. doi: 10.1038/s41467-023-36486-0. Nat Commun. 2023. PMID: 36792666 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.
Integrating transcriptomics, metabolomics, and GWAS helps reveal molecular mechanisms for metabolite levels and disease risk.
Yin X, Bose D, Kwon A, Hanks SC, Jackson AU, Stringham HM, Welch R, Oravilahti A, Fernandes Silva L; FinnGen; Locke AE, Fuchsberger C, Service SK, Erdos MR, Bonnycastle LL, Kuusisto J, Stitziel NO, Hall IM, Morrison J, Ripatti S, Palotie A, Freimer NB, Collins FS, Mohlke KL, Scott LJ, Fauman EB, Burant C, Boehnke M, Laakso M, Wen X. Yin X, et al. Am J Hum Genet. 2022 Oct 6;109(10):1727-1741. doi: 10.1016/j.ajhg.2022.08.007. Epub 2022 Sep 1. Am J Hum Genet. 2022. PMID: 36055244 Free PMC article.
High-coverage whole-genome sequencing of the expanded 1000 Genomes Project cohort including 602 trios.
Byrska-Bishop M, Evani US, Zhao X, Basile AO, Abel HJ, Regier AA, Corvelo A, Clarke WE, Musunuri R, Nagulapalli K, Fairley S, Runnels A, Winterkorn L, Lowy E; Human Genome Structural Variation Consortium; Paul Flicek, Germer S, Brand H, Hall IM, Talkowski ME, Narzisi G, Zody MC. Byrska-Bishop M, et al. Cell. 2022 Sep 1;185(18):3426-3440.e19. doi: 10.1016/j.cell.2022.08.004. Cell. 2022. PMID: 36055201 Free PMC article.
32 results