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Rare copy number variants in over 100,000 European ancestry subjects reveal multiple disease associations.
Li YR, Glessner JT, Coe BP, Li J, Mohebnasab M, Chang X, Connolly J, Kao C, Wei Z, Bradfield J, Kim C, Hou C, Khan M, Mentch F, Qiu H, Bakay M, Cardinale C, Lemma M, Abrams D, Bridglall-Jhingoor A, Behr M, Harrison S, Otieno G, Thomas A, Wang F, Chiavacci R, Wu L, Hadley D, Goldmuntz E, Elia J, Maris J, Grundmeier R, Devoto M, Keating B, March M, Pellagrino R, Grant SFA, Sleiman PMA, Li M, Eichler EE, Hakonarson H. Li YR, et al. Among authors: connolly j. Nat Commun. 2020 Jan 14;11(1):255. doi: 10.1038/s41467-019-13624-1. Nat Commun. 2020. PMID: 31937769 Free PMC article.
Copy number variations in alternative splicing gene networks impact lifespan.
Glessner JT, Smith AV, Panossian S, Kim CE, Takahashi N, Thomas KA, Wang F, Seidler K, Harris TB, Launer LJ, Keating B, Connolly J, Sleiman PM, Buxbaum JD, Grant SF, Gudnason V, Hakonarson H. Glessner JT, et al. Among authors: connolly j. PLoS One. 2013;8(1):e53846. doi: 10.1371/journal.pone.0053846. Epub 2013 Jan 30. PLoS One. 2013. PMID: 23382853 Free PMC article.
Electronic Health Record Based Algorithm to Identify Patients with Autism Spectrum Disorder.
Lingren T, Chen P, Bochenek J, Doshi-Velez F, Manning-Courtney P, Bickel J, Wildenger Welchons L, Reinhold J, Bing N, Ni Y, Barbaresi W, Mentch F, Basford M, Denny J, Vazquez L, Perry C, Namjou B, Qiu H, Connolly J, Abrams D, Holm IA, Cobb BA, Lingren N, Solti I, Hakonarson H, Kohane IS, Harley J, Savova G. Lingren T, et al. Among authors: connolly j. PLoS One. 2016 Jul 29;11(7):e0159621. doi: 10.1371/journal.pone.0159621. eCollection 2016. PLoS One. 2016. PMID: 27472449 Free PMC article.
Identification of Four Novel Loci in Asthma in European American and African American Populations.
Almoguera B, Vazquez L, Mentch F, Connolly J, Pacheco JA, Sundaresan AS, Peissig PL, Linneman JG, McCarty CA, Crosslin D, Carrell DS, Lingren T, Namjou-Khales B, Harley JB, Larson E, Jarvik GP, Brilliant M, Williams MS, Kullo IJ, Hysinger EB, Sleiman PM, Hakonarson H. Almoguera B, et al. Among authors: connolly j. Am J Respir Crit Care Med. 2017 Feb 15;195(4):456-463. doi: 10.1164/rccm.201604-0861OC. Am J Respir Crit Care Med. 2017. PMID: 27611488 Free PMC article.
The genetic architecture of membranous nephropathy and its potential to improve non-invasive diagnosis.
Xie J, Liu L, Mladkova N, Li Y, Ren H, Wang W, Cui Z, Lin L, Hu X, Yu X, Xu J, Liu G, Caliskan Y, Sidore C, Balderes O, Rosen RJ, Bodria M, Zanoni F, Zhang JY, Krithivasan P, Mehl K, Marasa M, Khan A, Ozay F, Canetta PA, Bomback AS, Appel GB, Sanna-Cherchi S, Sampson MG, Mariani LH, Perkowska-Ptasinska A, Durlik M, Mucha K, Moszczuk B, Foroncewicz B, Pączek L, Habura I, Ars E, Ballarin J, Mani LY, Vogt B, Ozturk S, Yildiz A, Seyahi N, Arikan H, Koc M, Basturk T, Karahan G, Akgul SU, Sever MS, Zhang D, Santoro D, Bonomini M, Londrino F, Gesualdo L, Reiterova J, Tesar V, Izzi C, Savoldi S, Spotti D, Marcantoni C, Messa P, Galliani M, Roccatello D, Granata S, Zaza G, Lugani F, Ghiggeri G, Pisani I, Allegri L, Sprangers B, Park JH, Cho B, Kim YS, Kim DK, Suzuki H, Amoroso A, Cattran DC, Fervenza FC, Pani A, Hamilton P, Harris S, Gupta S, Cheshire C, Dufek S, Issler N, Pepper RJ, Connolly J, Powis S, Bockenhauer D, Stanescu HC, Ashman N, Loos RJF, Kenny EE, Wuttke M, Eckardt KU, Köttgen A, Hofstra JM, Coenen MJH, Kiemeney LA, Akilesh S, Kretzler M, Beck LH, Stengel B, Debiec H, Ronco P, Wetzels JFM, Zoledziewska M, Cucca F, Ionita-Laza I, Lee H, Hoxha E, Stahl RAK, Brenchley P, … See abstract for full author list ➔ Xie J, et al. Among authors: connolly j. Nat Commun. 2020 Mar 30;11(1):1600. doi: 10.1038/s41467-020-15383-w. Nat Commun. 2020. PMID: 32231244 Free PMC article.
2,043 results