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Page 1
Phenotypes of undiagnosed adults with actionable OTC and GLA variants.
Gold JI, Madhavan S, Park J, Zouk H, Perez E, Strong A, Drivas TG, Karaa A, Yudkoff M, Rader D; Regeneron Genetics Center; Penn Medicine BioBank; Green RC, Gold NB. Gold JI, et al. Among authors: drivas tg. HGG Adv. 2023 Jul 29;4(4):100226. doi: 10.1016/j.xhgg.2023.100226. eCollection 2023 Oct 12. HGG Adv. 2023. PMID: 37593415 Free PMC article.
Clinical correlates of CT imaging-derived phenotypes among lean and overweight patients with hepatic steatosis.
Song I, Thompson EW, Verma A, MacLean MT, Duda J, Elahi A, Tran R, Raghupathy P, Swago S, Hazim M, Bhattaru A, Schneider C, Vujkovic M, Torigian DA, Kahn CE, Gee JC, Borthakur A, Kripke CM, Carson CC, Carr R, Jehangir Q, Ko YA, Litt H, Rosen M, Mankoff DA, Schnall MD, Shou H, Chirinos J, Damrauer SM, Serper M, Chen J, Rader DJ; Penn Medicine BioBank; Witschey WRT, Sagreiya H. Song I, et al. Sci Rep. 2024 Jan 2;14(1):53. doi: 10.1038/s41598-023-49470-x. Sci Rep. 2024. PMID: 38167550 Free PMC article.
The Penn Medicine BioBank: Towards a Genomics-Enabled Learning Healthcare System to Accelerate Precision Medicine in a Diverse Population.
Verma A, Damrauer SM, Naseer N, Weaver J, Kripke CM, Guare L, Sirugo G, Kember RL, Drivas TG, Dudek SM, Bradford Y, Lucas A, Judy R, Verma SS, Meagher E, Nathanson KL, Feldman M, Ritchie MD, Rader DJ, For The Penn Medicine BioBank. Verma A, et al. Among authors: drivas tg. J Pers Med. 2022 Nov 29;12(12):1974. doi: 10.3390/jpm12121974. J Pers Med. 2022. PMID: 36556195 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.
Prior vaccination promotes early activation of memory T cells and enhances immune responses during SARS-CoV-2 breakthrough infection.
Painter MM, Johnston TS, Lundgreen KA, Santos JJS, Qin JS, Goel RR, Apostolidis SA, Mathew D, Fulmer B, Williams JC, McKeague ML, Pattekar A, Goode A, Nasta S, Baxter AE, Giles JR, Skelly AN, Felley LE, McLaughlin M, Weaver J; Penn Medicine BioBank; Kuthuru O, Dougherty J, Adamski S, Long S, Kee M, Clendenin C, da Silva Antunes R, Grifoni A, Weiskopf D, Sette A, Huang AC, Rader DJ, Hensley SE, Bates P, Greenplate AR, Wherry EJ. Painter MM, et al. Nat Immunol. 2023 Oct;24(10):1711-1724. doi: 10.1038/s41590-023-01613-y. Epub 2023 Sep 21. Nat Immunol. 2023. PMID: 37735592
Progesterone for Neurodevelopment in Fetuses With Congenital Heart Defects: A Randomized Clinical Trial.
Gaynor JW, Moldenhauer JS, Zullo EE, Burnham NB, Gerdes M, Bernbaum JC, D'Agostino JA, Linn RL, Klepczynski B, Randazzo I, Gionet G, Choi GH, Karaj A, Russell WW, Zackai EH, Johnson MP, Gebb JS, Soni S, DeBari SE, Szwast AL, Ahrens-Nicklas RC, Drivas TG, Jacobwitz M, Licht DJ, Vossough A, Nicolson SC, Spray TL, Rychik J, Putt ME. Gaynor JW, et al. Among authors: drivas tg. JAMA Netw Open. 2024 May 1;7(5):e2412291. doi: 10.1001/jamanetworkopen.2024.12291. JAMA Netw Open. 2024. PMID: 38805228 Free PMC article. Clinical Trial.
Sex-Specific Effect of MTSS1 Downregulation on Dilated Cardiomyopathy.
Choe D, Burke M, Brandimarto JA, Marti-Pamies I, Yob J, Yang Y, Morley MP, Drivas TG, Day S, Damrauer S, Wang X, Cappola TP. Choe D, et al. Among authors: drivas tg. medRxiv [Preprint]. 2024 Mar 1:2024.02.28.24303451. doi: 10.1101/2024.02.28.24303451. medRxiv. 2024. PMID: 38464240 Free PMC article. Preprint.
Microcystic lymphatic malformations in Turner syndrome are due to somatic mosaicism of PIK3CA.
Nriagu BN, Williams LS, Brewer N, Surrey LF, Srinivasan AS, Li D, Britt A, Treat J, Crowley TB, O'Connor N, Ganguly A, Low D, Queenan M, Drivas TG, Zackai EH, Adams DM, Hakonarson H, Snyder KM, Sheppard SE. Nriagu BN, et al. Among authors: drivas tg. Am J Med Genet A. 2024 Jan;194(1):64-69. doi: 10.1002/ajmg.a.63385. Epub 2023 Sep 13. Am J Med Genet A. 2024. PMID: 37705207 Free PMC article.
34 results