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Year Number of Results
2015 1
2016 1
2017 8
2018 7
2019 7
2020 23
2021 25
2022 16
2023 15
2024 2

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99 results

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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
Whole genome analysis of rare deleterious variants adds further evidence to BRSK2 and other risk genes in Autism Spectrum Disorder.
Bacchelli E, Viggiano M, Ceroni F, Visconti P, Posar A, Scaduto M, Sandoni L, Baravelli I, Cameli C, Rochat M, Maresca A, Vaisfeld A, Gentilini D, Calzari L, Carelli V, Zody M, Maestrini E. Bacchelli E, et al. Res Sq [Preprint]. 2023 Oct 28:rs.3.rs-3468592. doi: 10.21203/rs.3.rs-3468592/v1. Res Sq. 2023. PMID: 37961520 Free PMC article. Updated. Preprint.
Epigenomic response to albuterol treatment in asthma-relevant airway epithelial cells.
Perez-Garcia J, Pino-Yanes M, Plender EG, Everman JL, Eng C, Jackson ND, Moore CM, Beckman KB, Medina V, Sharma S, Winnica DE, Holguin F, Rodríguez-Santana J, Villar J, Ziv E, Seibold MA, Burchard EG. Perez-Garcia J, et al. Clin Epigenetics. 2023 Oct 3;15(1):156. doi: 10.1186/s13148-023-01571-0. Clin Epigenetics. 2023. PMID: 37784136 Free PMC article.
The contributions of rare inherited and polygenic risk to ASD in multiplex families.
Cirnigliaro M, Chang TS, Arteaga SA, Pérez-Cano L, Ruzzo EK, Gordon A, Bicks LK, Jung JY, Lowe JK, Wall DP, Geschwind DH. Cirnigliaro M, et al. Proc Natl Acad Sci U S A. 2023 Aug;120(31):e2215632120. doi: 10.1073/pnas.2215632120. Epub 2023 Jul 28. Proc Natl Acad Sci U S A. 2023. PMID: 37506195 Free PMC article.
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
99 results