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Year Number of Results
2008 2
2011 1
2012 1
2013 1
2014 2
2015 3
2018 1
2019 1
2020 1
2021 5
2022 8
2023 10
2024 14
2025 13

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61 results

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Page 1
Kidney multiome-based genetic scorecard reveals convergent coding and regulatory variants.
Liu H, Abedini A, Ha E, Ma Z, Sheng X, Dumoulin B, Qiu C, Aranyi T, Li S, Dittrich N, Chen HC, Tao R, Tarng DC, Hsieh FJ, Chen SA, Yang SF, Lee MY, Kwok PY, Wu JY, Chen CH, Khan A, Limdi NA, Wei WQ, Walunas TL, Karlson EW, Kenny EE, Luo Y, Kottyan L, Connolly JJ, Jarvik GP, Weng C, Shang N, Cole JB, Mercader JM, Mandla R, Majarian TD, Florez JC, Haas ME, Lotta LA; Regeneron Genetics Center‡; GHS-RGC DiscovEHR Collaboration§; Drivas TG; Penn Medicine BioBank¶; Vy HMT, Nadkarni GN, Wiley LK, Wilson MP, Gignoux CR, Rasheed H, Thomas LF, Åsvold BO, Brumpton BM, Hallan SI, Hveem K, Zheng J, Hellwege JN, Zawistowski M, Zöllner S, Franceschini N, Hu H, Zhou J, Kiryluk K, Ritchie MD, Palmer M, Edwards TL, Voight BF, Hung AM, Susztak K; Regeneron Genetics Center; GHS-RGC DiscovEHR Collaboration; Penn Medicine BioBank. Liu H, et al. Among authors: drivas tg. Science. 2025 Feb 7;387(6734):eadp4753. doi: 10.1126/science.adp4753. Epub 2025 Feb 7. Science. 2025. PMID: 39913582 Free PMC article.
Evaluating Performance and Agreement of Coronary Heart Disease Polygenic Risk Scores.
Abramowitz SA, Boulier K, Keat K, Cardone KM, Shivakumar M, DePaolo J, Judy R, Bermudez F, Mimouni N, Neylan C, Kim D, Rader DJ, Ritchie MD, Voight BF, Pasaniuc B, Levin MG, Damrauer SM; Penn Medicine BioBank. Abramowitz SA, et al. JAMA. 2025 Jan 7;333(1):60-70. doi: 10.1001/jama.2024.23784. JAMA. 2025. PMID: 39549270 Free PMC article.
Agonist antibody to guanylate cyclase receptor NPR1 regulates vascular tone.
Dunn ME, Kithcart A, Kim JH, Ho AJ, Franklin MC, Romero Hernandez A, de Hoon J, Botermans W, Meyer J, Jin X, Zhang D, Torello J, Jasewicz D, Kamat V, Garnova E, Liu N, Rosconi M, Pan H, Karnik S, Burczynski ME, Zheng W, Rafique A, Nielsen JB, De T, Verweij N, Pandit A, Locke A, Chalasani N, Melander O, Schwantes-An TH; Penn Medicine Biobank; Baras A, Lotta LA, Musser BJ, Mastaitis J, Devalaraja-Narashimha KB, Rankin AJ, Huang T, Herman G, Olson W, Murphy AJ, Yancopoulos GD, Olenchock BA, Morton L. Dunn ME, et al. Nature. 2024 Sep;633(8030):654-661. doi: 10.1038/s41586-024-07903-1. Epub 2024 Sep 11. Nature. 2024. PMID: 39261724 Free PMC article. Clinical Trial.
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
Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice.
Sheppard SE, Bryant L, Wickramasekara RN, Vaccaro C, Robertson B, Hallgren J, Hulen J, Watson CJ, Faundes V, Duffourd Y, Lee P, Simon MC, de la Cruz X, Padilla N, Flores-Mendez M, Akizu N, Smiler J, Pellegrino Da Silva R, Li D, March M, Diaz-Rosado A, Peixoto de Barcelos I, Choa ZX, Lim CY, Dubourg C, Journel H, Demurger F, Mulhern M, Akman C, Lippa N, Andrews M, Baldridge D, Constantino J, van Haeringen A, Snoeck-Streef I, Chow P, Hing A, Graham JM Jr, Au M, Faivre L, Shen W, Mao R, Palumbos J, Viskochil D, Gahl W, Tifft C, Macnamara E, Hauser N, Miller R, Maffeo J, Afenjar A, Doummar D, Keren B, Arn P, Macklin-Mantia S, Meerschaut I, Callewaert B, Reis A, Zweier C, Brewer C, Saggar A, Smeland MF, Kumar A, Elmslie F, Deshpande C, Nizon M, Cogne B, van Ierland Y, Wilke M, van Slegtenhorst M, Koudijs S, Chen JY, Dredge D, Pier D, Wortmann S, Kamsteeg EJ, Koch J, Haynes D, Pollack L, Titheradge H, Ranguin K, Denommé-Pichon AS, Weber S, Pérez de la Fuente R, Sánchez Del Pozo J, Lezana Rosales JM, Joset P, Steindl K, Rauch A, Mei D, Mari F, Guerrini R, Lespinasse J, Tran Mau-Them F, Philippe C, Dauriat B, Raymond L, Moutton S, Cueto-González AM, Tan TY, Mignot C, Grotto S, Renaldo F, … See abstract for full author list ➔ Sheppard SE, et al. Among authors: drivas tg. Sci Adv. 2023 Mar 10;9(10):eade1463. doi: 10.1126/sciadv.ade1463. Epub 2023 Mar 10. Sci Adv. 2023. PMID: 36897941 Free PMC article.
Common-variant and rare-variant genetic architecture of heart failure across the allele-frequency spectrum.
Lee DSM, Cardone KM, Zhang DY, Tsao NL, Abramowitz S, Sharma P, DePaolo JS, Conery M, Aragam KG, Biddinger K, Dilitikas O, Hoffman-Andrews L, Judy RL, Khan A, Kullo IJ, Puckelwartz MJ, Reza N, Satterfield BA, Singhal P; Penn Medicine Biobank; Arany Z, Cappola TP, Carruth ED, Day SM, Do R, Haggerty CM, Joseph J, McNally EM, Nadkarni G, Owens AT, Rader DJ, Ritchie MD, Sun YV, Voight BF, Levin MG, Damrauer SM. Lee DSM, et al. Nat Genet. 2025 Apr;57(4):829-838. doi: 10.1038/s41588-025-02140-2. Epub 2025 Apr 7. Nat Genet. 2025. PMID: 40195560
A deep catalogue of protein-coding variation in 983,578 individuals.
Sun KY, Bai X, Chen S, Bao S, Zhang C, Kapoor M, Backman J, Joseph T, Maxwell E, Mitra G, Gorovits A, Mansfield A, Boutkov B, Gokhale S, Habegger L, Marcketta A, Locke AE, Ganel L, Hawes A, Kessler MD, Sharma D, Staples J, Bovijn J, Gelfman S, Di Gioia A, Rajagopal VM, Lopez A, Varela JR, Alegre-Díaz J, Berumen J, Tapia-Conyer R, Kuri-Morales P, Torres J, Emberson J, Collins R; Regeneron Genetics Center; RGC-ME Cohort Partners; Cantor M, Thornton T, Kang HM, Overton JD, Shuldiner AR, Cremona ML, Nafde M, Baras A, Abecasis G, Marchini J, Reid JG, Salerno W, Balasubramanian S. Sun KY, et al. Nature. 2024 Jul;631(8021):583-592. doi: 10.1038/s41586-024-07556-0. Epub 2024 May 20. Nature. 2024. PMID: 38768635 Free PMC article.
A genotype-first approach identifies high incidence of NF1 pathogenic variants with distinct disease associations.
Safonov A, Nomakuchi TT, Chao E, Horton C, Dolinsky JS, Yussuf A, Richardson M, Speare V, Li S, Bogus ZC, Bonanni M, Raper A, Odia T, Wubbenhorst BS, Faulders E, Schuth EM, Loranger K, Zhang J, Scalise CB, ElNaggar A, Sha Y, Felker SA, Weitzel J, Kallish S, Ritchie MD; Penn Medicine BioBank; Nathanson KL, Drivas TG. Safonov A, et al. Among authors: drivas tg. Nat Commun. 2025 Apr 1;16(1):3121. doi: 10.1038/s41467-025-57077-1. Nat Commun. 2025. PMID: 40169570 Free PMC article.
The polygenic architecture of hidradenitis suppurativa reveals signaling mechanisms that implicate epithelial remodeling.
Khan A, Gould PA, Luo Y, Prens EP, Wheless L, Hung AM; VA Million Veteran Program; Drivas TG, Ritchie MD, Saeidian AH, Hákonarson H, March M, Dand N, Barker J, Simpson M, Saklatvala J, Du-Harpur X, Farnood S, Chung R, Curtis CJ, Lee SH, Kirby B, Teder-Laving M, Kingo K; Estonian Biobank research team; Thomas LF, Løset M, Brumpton BM, Hveem K, Hayes MG, Connolly J, Mentch F, Sleiman P, Brown KL, Tatonetti N, Perez OD, Braun A, Ripke S, Gaddam S, Oro A, Redmond LC, Higgins C, Lin MJ, Chiu ES, Lu CP, Hripcsak G, Weng C, Kiryluk K, Tsoi LC, Gudjonsson JE, van Straalen KR, Milner JD, Petukhova L. Khan A, et al. Among authors: drivas tg. medRxiv [Preprint]. 2025 Jul 28:2025.07.25.25332168. doi: 10.1101/2025.07.25.25332168. medRxiv. 2025. PMID: 40766141 Free PMC article. Preprint.
61 results