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Page 1
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. medRxiv [Preprint]. 2023 Oct 23:2023.09.30.23296353. doi: 10.1101/2023.09.30.23296353. medRxiv. 2023. Update in: BMC Genomics. 2024 Jun 29;25(1):651. doi: 10.1186/s12864-024-10538-1 PMID: 37873269 Free PMC article. Updated. Preprint.
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. Res Sq [Preprint]. 2023 Dec 21:rs.3.rs-3721598. doi: 10.21203/rs.3.rs-3721598/v1. Res Sq. 2023. Update in: BMC Genomics. 2024 Jun 29;25(1):651. doi: 10.1186/s12864-024-10538-1 PMID: 38196621 Free PMC article. Updated. Preprint.
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.
Multi-ancestry genome-wide association study reveals novel genetic signals for lung function decline.
Patchen BK, Zhang J, Gaddis N, Bartz TM, Chen J, Debban C, Leonard H, Nguyen NQ, Seo J, Tern C, Allen R, DeMeo DL, Fornage M, Melbourne C, Minto M, Moll M, O'Connor G, Pottinger T, Psaty BM, Rich SS, Rotter JI, Silverman EK, Stratford J, Graham Barr R, Cho MH, Gharib SA, Manichaikul A, North K, Oelsner EC, Simonsick EM, Tobin MD, Yu B, Choi SH, Dupuis J, Cassano PA, Hancock DB. Patchen BK, et al. medRxiv [Preprint]. 2024 Nov 27:2024.11.25.24317794. doi: 10.1101/2024.11.25.24317794. medRxiv. 2024. PMID: 39649580 Free PMC article. Preprint.
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, Etheridge FK, Etheridge SP, Monroe TO, Pottinger TD, Kannankeril PJ, Shoemaker MB, Fountain D, Roden DM, MacLeod H, Burns KM, Yandell M, Tristani-Firouzi M, George AL, McNally EM. Puckelwartz MJ, et al. Among authors: pottinger td. medRxiv [Preprint]. 2023 Mar 29:2023.03.27.23287711. doi: 10.1101/2023.03.27.23287711. medRxiv. 2023. Update in: Genome Med. 2024 Jan 16;16(1):13. doi: 10.1186/s13073-024-01284-w PMID: 37034657 Free PMC article. Updated. Preprint.
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. Among authors: pottinger td. Ann Am Thorac Soc. 2024 Jun;21(6):884-894. doi: 10.1513/AnnalsATS.202305-417OC. Ann Am Thorac Soc. 2024. PMID: 38335160
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. Among authors: pottinger td. Genome Med. 2024 Jan 16;16(1):13. doi: 10.1186/s13073-024-01284-w. Genome Med. 2024. PMID: 38229148 Free PMC article.
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. Among authors: pottinger td. Thorax. 2023 Nov;78(11):1067-1079. doi: 10.1136/thorax-2022-219158. Epub 2023 Jun 2. Thorax. 2023. PMID: 37268414 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); … See abstract for full author list ➔ Butler-Laporte G, et al. Among authors: pottinger td. 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.
Exome sequencing in obsessive-compulsive disorder reveals a burden of rare damaging coding variants.
Halvorsen M, Samuels J, Wang Y, Greenberg BD, Fyer AJ, McCracken JT, Geller DA, Knowles JA, Zoghbi AW, Pottinger TD, Grados MA, Riddle MA, Bienvenu OJ, Nestadt PS, Krasnow J, Goes FS, Maher B, Nestadt G, Goldstein DB. Halvorsen M, et al. Among authors: pottinger td. Nat Neurosci. 2021 Aug;24(8):1071-1076. doi: 10.1038/s41593-021-00876-8. Epub 2021 Jun 28. Nat Neurosci. 2021. PMID: 34183866
18 results