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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: luo y. medRxiv [Preprint]. 2025 Apr 3:2025.04.01.25325049. doi: 10.1101/2025.04.01.25325049. medRxiv. 2025. PMID: 40236425 Free PMC article. Preprint.
Strong protective effect of the APOL1 p.N264K variant against G2-associated focal segmental glomerulosclerosis and kidney disease.
Gupta Y, Friedman DJ, McNulty M, Khan A, Lane B, Wang C, Ke J, Jin G, Wooden B, Knob AL, Lim TY, Appel GB, Huggins K, Liu L, Mitrotti A, Stangl MC, Bomback A, Westland R, Bodria M, Marasa M, Shang N, Cohen DJ, Crew RJ, Morello W, Canetta P, Radhakrishnan J, Martino J, Liu Q, Chung WK, Espinoza A, Luo Y, Wei WQ, Feng Q, Weng C, Fang Y, Kullo IJ, Naderian M, Limdi N, Irvin MR, Tiwari H, Mohan S, Rao M, Dube G, Chaudhary NS, Gutiérrez OM, Judd SE, Cushman M, Lange LA, Lange EM, Bivona DL, Verbitsky M, Winkler CA, Kopp JB, Santoriello D, Batal I, Brant Pinheiro SV, Araújo Oliveira E, E Silva ACS, Pisani I, Fiaccadori E, Lin F, Gesualdo L, Amoroso A, Ghiggeri GM, D'Agati VD, Magistroni R, Kenny EE, Loos RJF, Montini G, Hildebrandt F, Paul DS, Petrovski S, Goldstein DB, Kretzler M, Gbadegesin R, Gharavi AG, Kiryluk K, Sampson MG, Pollak MR, Sanna-Cherchi S. Gupta Y, et al. Among authors: luo y. medRxiv [Preprint]. 2023 Aug 4:2023.08.02.23293554. doi: 10.1101/2023.08.02.23293554. medRxiv. 2023. Update in: Nat Commun. 2023 Nov 30;14(1):7836. doi: 10.1038/s41467-023-43020-9. PMID: 37577628 Free PMC article. Updated. Preprint.
Enhancing Genetic Association Power in Endometriosis through Unsupervised Clustering of Clinical Subtypes Identified from Electronic Health Records.
Guare L, Humphrey LA, Rush M, Pollie M, Luo Y, Weng C, Wei WQ, Kottyan L, Jarvik G, Elhadad N; Penn Medicine Biobank; Regeneron Genetics Center; Zondervan K, Missmer S, Vujkovic M, Velez-Edwards D, Senapati S, Setia-Verma S. Guare L, et al. Among authors: luo y. medRxiv [Preprint]. 2024 Apr 22:2024.04.22.24306092. doi: 10.1101/2024.04.22.24306092. medRxiv. 2024. PMID: 38712122 Free PMC article. Preprint.
Expanding the genetic landscape of endometriosis: Integrative -omics analyses uncover key pathways from a multi-ancestry study of over 900,000 women.
Guare LA, Das J, Caruth L, Rajagopalan A, Akerele AT, Brumpton BM, Chen TT, Kottyan L, Lin YF, Moreno E, Mulford AJ, Rovite V, Sanders AR, Dombrovska MS, Elhadad N, Hill A, Jarvik G, Jaworski J, Luo Y, Namba S, Okada Y, Shi Y, Shirai Y, Shortt J, Wei WQ, Weng C, Yamamoto Y, Chapman S, Zhou W, Velez Edwards DR, Setia-Verma S. Guare LA, et al. Among authors: luo y. medRxiv [Preprint]. 2024 Nov 29:2024.11.26.24316723. doi: 10.1101/2024.11.26.24316723. medRxiv. 2024. PMID: 39649588 Free PMC article. Preprint.
Mixed-effects polygenic risk score Phenome-wide association study detects genetic correlation between colorectal cancer risk and phenotype data extracted from the electronic health record.
Rosenthal EA, Wei WQ, Luo Y, Namjou-Khales B, Schaid DJ, Esplin ED, Lape M, Kottyan L, Pacheco JAPA, Weng C, Gordon AS, Kullo IJ, Crosslin DR, Grady WM, Hsu L, Peters U, Jarvik GP. Rosenthal EA, et al. Among authors: luo y. medRxiv [Preprint]. 2025 Feb 28:2025.02.26.25322864. doi: 10.1101/2025.02.26.25322864. medRxiv. 2025. PMID: 40061333 Free PMC article. Preprint.
Multi-ancestry GWAS of severe pregnancy nausea and vomiting identifies risk loci associated with appetite, insulin signaling, and brain plasticity.
Fejzo M, Wang X, Zöllner J, Pujol-Gualdo N, Laisk T; Estonian Biobank Research Team; Finer S, van Heel DA; Genes & Health Research Team; Brumpton B, Bhatta L, Hveem K, Jasper EA, Velez Edwards DR, Hellwege JN, Edwards T, Jarvik GP, Luo Y, Khan A, MacGibbon K, Gao Y, Ge G, Averbukh I, Soon E, Angelo M, Magnus P, Johansson S, Njølstad PR, Vaudel M, Shu C, Mancuso N. Fejzo M, et al. Among authors: luo y. medRxiv [Preprint]. 2024 Nov 20:2024.11.19.24317559. doi: 10.1101/2024.11.19.24317559. medRxiv. 2024. PMID: 39606329 Free PMC article. Preprint.
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: luo y. Science. 2025 Feb 7;387(6734):eadp4753. doi: 10.1126/science.adp4753. Epub 2025 Feb 7. Science. 2025. PMID: 39913582
A Common Longitudinal Intensive Care Unit data Format (CLIF) to enable multi-institutional federated critical illness research.
Rojas JC, Lyons PG, Chhikara K, Chaudhari V, Bhavani SV, Nour M, Buell KG, Smith KD, Gao CA, Amagai S, Mao C, Luo Y, Barker AK, Nuppnau M, Beck H, Baccile R, Hermsen M, Liao Z, Park-Egan B, Carey KA, XuanHan, Hochberg CH, Ingraham NE, Parker WF. Rojas JC, et al. Among authors: luo y. medRxiv [Preprint]. 2024 Sep 4:2024.09.04.24313058. doi: 10.1101/2024.09.04.24313058. medRxiv. 2024. Update in: Intensive Care Med. 2025 Mar;51(3):556-569. doi: 10.1007/s00134-025-07848-7. PMID: 39281737 Free PMC article. Updated. Preprint.
The Epidemiology of Intensive Care Unit Readmissions Across Ten Health Systems.
Amagai S, Chaudhari V, Chhikara K, Ingraham NE, Hochberg CH, Barker AK, Mao C, Ortiz AC, Weissman GE, Schmid BE, Schwinne M, Bhavani SV, Guleria S, Liao Z, Markov N, Lyons PG, Park-Egan B; CLIF Consortium; Parker WF, Luo Y, Rojas JC, Gao CA. Amagai S, et al. Among authors: luo y. medRxiv [Preprint]. 2025 Mar 13:2025.03.10.25323672. doi: 10.1101/2025.03.10.25323672. medRxiv. 2025. PMID: 40162266 Free PMC article. Preprint.
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