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Page 1
Pulmonary emphysema subtypes defined by unsupervised machine learning on CT scans.
Angelini ED, Yang J, Balte PP, Hoffman EA, Manichaikul AW, Sun Y, Shen W, Austin JHM, Allen NB, Bleecker ER, Bowler R, Cho MH, Cooper CS, Couper D, Dransfield MT, Garcia CK, Han MK, Hansel NN, Hughes E, Jacobs DR, Kasela S, Kaufman JD, Kim JS, Lappalainen T, Lima J, Malinsky D, Martinez FJ, Oelsner EC, Ortega VE, Paine R, Post W, Pottinger TD, Prince MR, Rich SS, Silverman EK, Smith BM, Swift AJ, Watson KE, Woodruff PG, Laine AF, Barr RG. Angelini ED, et al. Thorax. 2023 Nov;78(11):1067-1079. doi: 10.1136/thorax-2022-219158. Epub 2023 Jun 2. Thorax. 2023. PMID: 37268414 Free PMC article.
A framework for detecting noncoding rare-variant associations of large-scale whole-genome sequencing studies.
Li Z, Li X, Zhou H, Gaynor SM, Selvaraj MS, Arapoglou T, Quick C, Liu Y, Chen H, Sun R, Dey R, Arnett DK, Auer PL, Bielak LF, Bis JC, Blackwell TW, Blangero J, Boerwinkle E, Bowden DW, Brody JA, Cade BE, Conomos MP, Correa A, Cupples LA, Curran JE, de Vries PS, Duggirala R, Franceschini N, Freedman BI, Göring HHH, Guo X, Kalyani RR, Kooperberg C, Kral BG, Lange LA, Lin BM, Manichaikul A, Manning AK, Martin LW, Mathias RA, Meigs JB, Mitchell BD, Montasser ME, Morrison AC, Naseri T, O'Connell JR, Palmer ND, Peyser PA, Psaty BM, Raffield LM, Redline S, Reiner AP, Reupena MS, Rice KM, Rich SS, Smith JA, Taylor KD, Taub MA, Vasan RS, Weeks DE, Wilson JG, Yanek LR, Zhao W; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium; TOPMed Lipids Working Group; Rotter JI, Willer CJ, Natarajan P, Peloso GM, Lin X. Li Z, et al. Nat Methods. 2022 Dec;19(12):1599-1611. doi: 10.1038/s41592-022-01640-x. Epub 2022 Oct 27. Nat Methods. 2022. PMID: 36303018 Free PMC article.
The impact of damaging epilepsy and cardiac genetic variant burden in sudden death in the young.
Puckelwartz MJ, Pesce LL, Hernandez EJ, Webster G, Dellefave-Castillo LM, Russell MW, Geisler SS, Kearns SD, Karthik F, Etheridge SP, Monroe TO, Pottinger TD, Kannankeril PJ, Shoemaker MB, Fountain D, Roden DM, Faulkner M, MacLeod HM, Burns KM, Yandell M, Tristani-Firouzi M, George AL Jr, McNally EM. Puckelwartz MJ, et al. Genome Med. 2024 Jan 16;16(1):13. doi: 10.1186/s13073-024-01284-w. Genome Med. 2024. PMID: 38229148 Free PMC article.
Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative.
Butler-Laporte G, Povysil G, Kosmicki JA, Cirulli ET, Drivas T, Furini S, Saad C, Schmidt A, Olszewski P, Korotko U, Quinodoz M, Çelik E, Kundu K, Walter K, Jung J, Stockwell AD, Sloofman LG, Jordan DM, Thompson RC, Del Valle D, Simons N, Cheng E, Sebra R, Schadt EE, Kim-Schulze S, Gnjatic S, Merad M, Buxbaum JD, Beckmann ND, Charney AW, Przychodzen B, Chang T, Pottinger TD, Shang N, Brand F, Fava F, Mari F, Chwialkowska K, Niemira M, Pula S, Baillie JK, Stuckey A, Salas A, Bello X, Pardo-Seco J, Gómez-Carballa A, Rivero-Calle I, Martinón-Torres F, Ganna A, Karczewski KJ, Veerapen K, Bourgey M, Bourque G, Eveleigh RJ, Forgetta V, Morrison D, Langlais D, Lathrop M, Mooser V, Nakanishi T, Frithiof R, Hultström M, Lipcsey M, Marincevic-Zuniga Y, Nordlund J, Schiabor Barrett KM, Lee W, Bolze A, White S, Riffle S, Tanudjaja F, Sandoval E, Neveux I, Dabe S, Casadei N, Motameny S, Alaamery M, Massadeh S, Aljawini N, Almutairi MS, Arabi YM, Alqahtani SA, Al Harthi FS, Almutairi A, Alqubaishi F, Alotaibi S, Binowayn A, Alsolm EA, El Bardisy H, Fawzy M, Cai F, Soranzo N, Butterworth A; COVID-19 Host Genetics Initiative; DeCOI Host Genetics Group; GEN-COVID Multicenter Study (Italy); Mount S… See abstract for full author list ➔ Butler-Laporte G, et al. PLoS Genet. 2022 Nov 3;18(11):e1010367. doi: 10.1371/journal.pgen.1010367. eCollection 2022 Nov. PLoS Genet. 2022. PMID: 36327219 Free PMC article.
Rare variant analyses validate known ALS genes in a multi-ethnic population and identifies ANTXR2 as a candidate in PLS.
Pottinger TD, Motelow JE, Povysil G, Moreno CAM, Ren Z, Phatnani H; New York Genome Center ALS Sequencing Consortium; Aitman TJ, Santoyo-Lopez J; Scottish Genomes Partnership; Mitsumoto H; ALS COSMOS Study Group; PLS COSMOS Study Group; GTAC Investigators; Goldstein DB, Harms MB. Pottinger TD, et al. BMC Genomics. 2024 Jun 29;25(1):651. doi: 10.1186/s12864-024-10538-1. BMC Genomics. 2024. PMID: 38951798 Free PMC article.
Distinct COPD subtypes in former smokers revealed by gene network perturbation analysis.
Buschur KL, Riley C, Saferali A, Castaldi P, Zhang G, Aguet F, Ardlie KG, Durda P, Craig Johnson W, Kasela S, Liu Y, Manichaikul A, Rich SS, Rotter JI, Smith J, Taylor KD, Tracy RP, Lappalainen T, Graham Barr R, Sciurba F, Hersh CP, Benos PV. Buschur KL, et al. Respir Res. 2023 Jan 25;24(1):30. doi: 10.1186/s12931-023-02316-6. Respir Res. 2023. PMID: 36698131 Free PMC article.
Genetic and non-genetic factors affecting the expression of COVID-19-relevant genes in the large airway epithelium.
Kasela S, Ortega VE, Martorella M, Garudadri S, Nguyen J, Ampleford E, Pasanen A, Nerella S, Buschur KL, Barjaktarevic IZ, Barr RG, Bleecker ER, Bowler RP, Comellas AP, Cooper CB, Couper DJ, Criner GJ, Curtis JL, Han MK, Hansel NN, Hoffman EA, Kaner RJ, Krishnan JA, Martinez FJ, McDonald MN, Meyers DA, Paine R 3rd, Peters SP, Castro M, Denlinger LC, Erzurum SC, Fahy JV, Israel E, Jarjour NN, Levy BD, Li X, Moore WC, Wenzel SE, Zein J; NHLBI SubPopulations and InteRmediate Outcome Measures In COPD Study (SPIROMICS); NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium; Langelier C, Woodruff PG, Lappalainen T, Christenson SA. Kasela S, et al. Genome Med. 2021 Apr 21;13(1):66. doi: 10.1186/s13073-021-00866-2. Genome Med. 2021. PMID: 33883027 Free PMC article.
Peripheral Blood Mononuclear Cell Gene Expression Associated with Pulmonary Microvascular Perfusion: The Multi-Ethnic Study of Atherosclerosis Chronic Obstructive Pulmonary Disease.
Buschur KL, Pottinger TD, Vogel-Claussen J, Powell CA, Aguet F, Allen NB, Ardlie K, Bluemke DA, Durda P, Hermann EA, Hoffman EA, Lima JAC, Liu Y, Malinsky D, Manichaikul A, Motahari A, Post WS, Prince MR, Rich SS, Rotter JI, Smith BM, Tracy RP, Watson K, Winther HB, Lappalainen T, Barr RG. Buschur KL, et al. Ann Am Thorac Soc. 2024 Jun;21(6):884-894. doi: 10.1513/AnnalsATS.202305-417OC. Ann Am Thorac Soc. 2024. PMID: 38335160
Dynamic and prognostic proteomic associations with FEV1 decline in chronic obstructive pulmonary disease.
Ruvuna L, Hijazi K, Guzman DE, Guo C, Loureiro J, Khokhlovich E, Morris M, Obeidat M, Pratte KA, DiLillo KM, Sharma S, Kechris K, Anzueto A, Barjaktarevic I, Bleecker ER, Casaburi R, Comellas A, Cooper CB, DeMeo DL, Foreman M, Flenaugh EL, Han MK, Hanania NA, Hersh CP, Krishnan JA, Labaki WW, Martinez FJ, O'Neal WK, Paine R 3rd, Peters SP, Woodruff PG, Wells JM, Wendt CH, Arnold KB, Barr RG, Curtis JL, Ngo D, Bowler RP; SPIROMICS, COPDGene and MESA-Lung Investigators. Ruvuna L, et al. medRxiv [Preprint]. 2024 Aug 8:2024.08.07.24311507. doi: 10.1101/2024.08.07.24311507. medRxiv. 2024. PMID: 39148837 Free PMC article. Preprint.