Daniel J Rader, MD

Selected Publications

• 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. : Kidney multiome-based genetic scorecard reveals convergent coding and regulatory variants Science 387 : eadp4753, Feb 2025
• Borja NA, Tinker RJ, Bivona SA, Smith CA, Locker TK, Fernandes S; Undiagnosed Diseases Network; Phillips JA 3rd, Stoler J, Taylor H, Zuchner S, Tekin M. : Advancing Equity in Rare Disease Research: Insights From the Undiagnosed Disease Network Am J Med Genet A 197(2) : e63904, Feb 2025
• Fan Z, Chirinos J, Yang X, Shu J, Li Y, O'Brien JM, Witschey W, Rader DJ, Gur R, Zhao B. : The landscape of plasma proteomic links to human organ imaging medRxiv Jan 2025
• Borja NA, Zafeer MF, Bivona S, Peart L, Gultekin SH; Undiagnosed Diseases Network; Bademci G, Tekin M; Undiagnosed Diseases Network NIH. : KIF21A-associated peripheral neuropathy defined by impaired binding with TUBB3 J Med Genet 62 : 117-122, Jan 2025
• Tian L, Jaeger BC, Scialla JJ, Budoff MJ, Mehta RC, Jaar BG, Saab G, Dobre MA, Reilly MP, Rader DJ, Townsend RR, Lash JP, Greenland P, Isakova T, Bundy JD; CRIC Study Investigators. : Progression of Coronary Artery Calcification and Risk of Clinical Events in CKD: The Chronic Renal Insufficiency Cohort Study Am J Kidney Dis 85(1) : 67-77, Jan 2025
• Powers J, Wachtel H, Trujillo E, Desai H, Hausler R, Conway L, Wubbenhorst B; Penn Medicine BioBank; Regeneron Genetics Center; Domchek SM, Nathanson KL, Maxwell KN. : Multi-ethnic heterozygote frequencies of cancer susceptibility genes to inform counseling of reproductive risk Genet Med 27(1) : 101246, Jan 2025
• Weng LC, Rämö JT, Jurgens SJ, Khurshid S, Chaffin M, Hall AW, Morrill VN, Wang X, Nauffal V, Sun YV, Beer D, Lee S, Nadkarni GN, Duong T, Wang B, Czuba T, Austin TR, Yoneda ZT, Friedman DJ, Clayton A, Hyman MC, Judy RL, Skanes AC, Orland KM, Treu TM, Oetjens MT, Alonso A, Soliman EZ, Lin H, Lunetta KL, van der Pals J, Issa TZ, Nafissi NA, May HT, Leong-Sit P, Roselli C, Choi SH; FinnGen; Million Veteran Program; Regeneron Genetics Center; Khan HR, Knight S, Karlsson Linnér R, Bezzina CR, Ripatti S, Heckbert SR, Gaziano JM, Loos RJF, Psaty BM, Smith JG, Benjamin EJ, Arking DE, Rader DJ, Shah SH, Roden DM, Damrauer SM, Eckhardt LL, Roberts JD, Cutler MJ, Shoemaker MB, Haggerty CM, Cho K, Palotie A, Wilson PWF, Ellinor PT, Lubitz SA. : The impact of common and rare genetic variants on bradyarrhythmia development Nat Genet 57(1) : 53-64, Jan 2025
• Fitzsimmons L; Undiagnosed Diseases Network; Beaulieu-Jones B, Kobren SN. : Enriched phenotypes in rare variant carriers suggest pathogenic mechanisms in rare disease patients BioData Min 18 : 6, Jan 2025
• 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. : Evaluating Performance and Agreement of Coronary Heart Disease Polygenic Risk Scores JAMA 333 : 60-70, Jan 2025
• Kember RL, Verma SS, Verma A, Xiao B, Lucas A, Kripke CM, Judy R, Chen J, Damrauer SM, Rader DJ, Ritchie MD. : Polygenic risk scores for cardiometabolic traits demonstrate importance of ancestry for predictive precision medicine Pac Symp Biocomput 30 : 748-765, 2025