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Page 1
Current Limitations of Electronic Health Record Systems in Supporting Pragmatic Clinical Trials: Insights from the eMERGE Consortium.
Wagholikar KB, Pacheco JA, Gordon AS, Khan A, Khales BN, Benoit B, Kerman BJ, Weng C, Ta C, Prows CA, Johnson R, Roden DM, Crosslin D, McNally EM, Karlson EW, Mentch F, Jarvik GP, Wiesner GL, Hakonarson H, Cimino JJ, Thayer JG, Smoller JW, Linder JE, Connolly J, Peterson JF, Cortopassi J, Kiryluk K, Hamed M, Maradik M, Puckelwartz MJ, Naderian M, Walton N, Limdi N, Maripuri DP, Walunas T, Gainer V, Luo Y, Liu C, Kenny EE, Espinoza A, Rowley R, Wei WQ, Murphy SN. Wagholikar KB, et al. Among authors: roden dm. medRxiv [Preprint]. 2025 Apr 3:2025.04.01.25325049. doi: 10.1101/2025.04.01.25325049. medRxiv. 2025. PMID: 40236425 Free PMC article. Preprint.
Returning integrated genomic risk and clinical recommendations: The eMERGE study.
Linder JE, Allworth A, Bland HT, Caraballo PJ, Chisholm RL, Clayton EW, Crosslin DR, Dikilitas O, DiVietro A, Esplin ED, Forman S, Freimuth RR, Gordon AS, Green R, Harden MV, Holm IA, Jarvik GP, Karlson EW, Labrecque S, Lennon NJ, Limdi NA, Mittendorf KF, Murphy SN, Orlando L, Prows CA, Rasmussen LV, Rasmussen-Torvik L, Rowley R, Sawicki KT, Schmidlen T, Terek S, Veenstra D, Velez Edwards DR, Absher D, Abul-Husn NS, Alsip J, Bangash H, Beasley M, Below JE, Berner ES, Booth J, Chung WK, Cimino JJ, Connolly J, Davis P, Devine B, Fullerton SM, Guiducci C, Habrat ML, Hain H, Hakonarson H, Harr M, Haverfield E, Hernandez V, Hoell C, Horike-Pyne M, Hripcsak G, Irvin MR, Kachulis C, Karavite D, Kenny EE, Khan A, Kiryluk K, Korf B, Kottyan L, Kullo IJ, Larkin K, Liu C, Malolepsza E, Manolio TA, May T, McNally EM, Mentch F, Miller A, Mooney SD, Murali P, Mutai B, Muthu N, Namjou B, Perez EF, Puckelwartz MJ, Rakhra-Burris T, Roden DM, Rosenthal EA, Saadatagah S, Sabatello M, Schaid DJ, Schultz B, Seabolt L, Shaibi GQ, Sharp RR, Shirts B, Smith ME, Smoller JW, Sterling R, Suckiel SA, Thayer J, Tiwari HK, Trinidad SB, Walunas T, Wei WQ, Wells QS, Weng C, Wiesner GL, Wiley K; eMERGE Con… See abstract for full author list ➔ Linder JE, et al. Among authors: roden dm. Genet Med. 2023 Apr;25(4):100006. doi: 10.1016/j.gim.2023.100006. Epub 2023 Jan 6. Genet Med. 2023. PMID: 36621880 Free PMC article.
Clinical consequences of a polygenic predisposition to benign lower white blood cell counts: Consequences of benign WBC count genetics.
Mosley JD, Shelley JP, Dickson AL, Zanussi J, Daniel LL, Zheng NS, Bastarache L, Wei WQ, Shi M, Jarvik GP, Rosenthal EA, Khan A, Sherafati A, Kullo IJ, Walunas TL, Glessner J, Hakonarson H, Cox NJ, Roden DM, Frangakis SG, Vanderwerff B, Stein CM, Van Driest SL, Borinstein SC, Shu XO, Zawistowski M, Chung CP, Kawai VK. Mosley JD, et al. Among authors: roden dm. medRxiv [Preprint]. 2023 Aug 21:2023.08.20.23294331. doi: 10.1101/2023.08.20.23294331. medRxiv. 2023. Update in: Nat Commun. 2024 Apr 22;15(1):3384. doi: 10.1038/s41467-024-47804-5. PMID: 37662324 Free PMC article. Updated. Preprint.
Leveraging Generative AI to Prioritize Drug Repurposing Candidates: Validating Identified Candidates for Alzheimer's Disease in Real-World Clinical Datasets.
Yan C, Grabowska ME, Dickson AL, Li B, Wen Z, Roden DM, Stein CM, Embí PJ, Peterson JF, Feng Q, Malin BA, Wei WQ. Yan C, et al. Among authors: roden dm. medRxiv [Preprint]. 2023 Jul 8:2023.07.07.23292388. doi: 10.1101/2023.07.07.23292388. medRxiv. 2023. Update in: NPJ Digit Med. 2024 Feb 26;7(1):46. doi: 10.1038/s41746-024-01038-3. PMID: 37461512 Free PMC article. Updated. Preprint.
Leveraging Generative AI to Prioritize Drug Repurposing Candidates: Validating Identified Candidates for Alzheimer's Disease in Real-World Clinical Datasets.
Wei WQ, Yan C, Grabowska M, Dickson A, Li B, Wen Z, Roden D, Stein C, Embí P, Peterson J, Feng Q, Malin B. Wei WQ, et al. Res Sq [Preprint]. 2023 Jul 14:rs.3.rs-3125859. doi: 10.21203/rs.3.rs-3125859/v1. Res Sq. 2023. Update in: NPJ Digit Med. 2024 Feb 26;7(1):46. doi: 10.1038/s41746-024-01038-3. PMID: 37503019 Free PMC article. Updated. Preprint.
ParSE-seq: A Calibrated Multiplexed Assay to Facilitate the Clinical Classification of Putative Splice-altering Variants.
O'Neill MJ, Yang T, Laudeman J, Calandranis M, Solus J, Roden DM, Glazer AM. O'Neill MJ, et al. Among authors: roden dm. medRxiv [Preprint]. 2023 Sep 8:2023.09.04.23295019. doi: 10.1101/2023.09.04.23295019. medRxiv. 2023. Update in: Nat Commun. 2024 Sep 27;15(1):8320. doi: 10.1038/s41467-024-52474-4. PMID: 37732247 Free PMC article. Updated. Preprint.
Scaled multidimensional assays of variant effect identify sequence-function relationships in hypertrophic cardiomyopathy.
Yamamoto Y, Chua K, Ferrasse A, Kirilova A, De Jong HN, Floyd BJ, Cadisch C, Wiel L, Wang Q, O'Neill MJ, Tabet D, Staudt D, Goryznski JE, Huang Y, Wilson RH, Sharma A, Tapales A, Agrawal R, Wheeler MT, MacRae C, Roden DM, Roth FP, Glazer AM, Ashley EA, Parikh VN. Yamamoto Y, et al. Among authors: roden dm. bioRxiv [Preprint]. 2025 May 27:2025.05.23.655878. doi: 10.1101/2025.05.23.655878. bioRxiv. 2025. PMID: 40501845 Free PMC article. Preprint.
Whole genome sequencing analysis of body mass index identifies novel African ancestry-specific risk allele.
Zhang X, Brody JA, Graff M, Highland HM, Chami N, Xu H, Wang Z, Ferrier KR, Chittoor G, Josyula NS, Meyer M, Gupta S, Li X, Li Z, Allison MA, Becker DM, Bielak LF, Bis JC, Boorgula MP, Bowden DW, Broome JG, Buth EJ, Carlson CS, Chang KM, Chavan S, Chiu YF, Chuang LM, Conomos MP, DeMeo DL, Du M, Duggirala R, Eng C, Fohner AE, Freedman BI, Garrett ME, Guo X, Haiman C, Heavner BD, Hidalgo B, Hixson JE, Ho YL, Hobbs BD, Hu D, Hui Q, Hwu CM, Jackson RD, Jain D, Kalyani RR, Kardia SLR, Kelly TN, Lange EM, LeNoir M, Li C, Le Marchand L, McDonald MN, McHugh CP, Morrison AC, Naseri T; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium; O'Connell J, O'Donnell CJ, Palmer ND, Pankow JS, Perry JA, Peters U, Preuss MH, Rao DC, Regan EA, Reupena SM, Roden DM, Rodriguez-Santana J, Sitlani CM, Smith JA, Tiwari HK, Vasan RS, Wang Z, Weeks DE, Wessel J, Wiggins KL, Wilkens LR, Wilson PWF, Yanek LR, Yoneda ZT, Zhao W, Zöllner S, Arnett DK, Ashley-Koch AE, Barnes KC, Blangero J, Boerwinkle E, Burchard EG, Carson AP, Chasman DI, Ida Chen YD, Curran JE, Fornage M, Gordeuk VR, He J, Heckbert SR, Hou L, Irvin MR, Kooperberg C, Minster RL, Mitchell BD, Nouraie M, Psaty BM, Raffield LM, Rei… See abstract for full author list ➔ Zhang X, et al. Among authors: roden dm. Nat Commun. 2025 Apr 11;16(1):3470. doi: 10.1038/s41467-025-58420-2. Nat Commun. 2025. PMID: 40216759 Free PMC article.
The Therapeutic Impact of Genetic Evaluation in an Atrial Fibrillation Precision Medicine Clinic.
Laws JL, Shabani M, Williams HL, Grauherr DD, Kilbourne WM, Crawford DM, Ogunmola I, Sun L, Virk Z, Cathey B, El-Harasis MA, Pelphrey CJ, Quintana JA, Murphy BS, Davogustto GE, Ponder ME, Irani OM, Daw JM, Varghese BT, Saavedra P, Abraham RL, Estrada JC, Murray KT, Clair WK, Shen ST, Kanagasundram AN, Montgomery JA, Ellis CR, Fish F, Richardson TD, Crossley GH, Hung RR, Dendy JM, Wright A, Wells QS, Ye F, Tandri H, Stevenson WG, Lancaster M, Kannankeril PJ, Stevenson LW, Roden DM, Yoneda ZT, Shoemaker MB. Laws JL, et al. Among authors: roden dm. medRxiv [Preprint]. 2025 Mar 30:2025.03.28.25324544. doi: 10.1101/2025.03.28.25324544. medRxiv. 2025. PMID: 40196242 Free PMC article. Preprint.
834 results