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Page 1
The 'Health-2-Go' programme's impact on all-cause mortality and clinic utilisation for children 5 and under: a retrospective cohort analysis of an iCCM intervention in Ghana's Barekese Subdistrict.
Guynn I, Hassmiller Lich K, Manortey S, Frerichs L, Mansfield AJ, Shaibu M, Anum-Brown MM, Antwi PO, Alder SC. Guynn I, et al. Among authors: mansfield aj. BMJ Glob Health. 2025 Mar 13;10(3):e017786. doi: 10.1136/bmjgh-2024-017786. BMJ Glob Health. 2025. PMID: 40086801 Free PMC article.
Insights from the Biorepository and Integrative Genomics pediatric resource.
Buonaiuto S, Marsico F, Mohammed A, Chinthala LK, Amos-Abanyie EK; Regeneron Genetics Center; Prins P, Mozhui K, Rooney RJ, Williams RW, Davis RL, Finkel TH, Brown CW, Colonna V. Buonaiuto S, et al. Nat Commun. 2025 May 22;16(1):4750. doi: 10.1038/s41467-025-59375-0. Nat Commun. 2025. PMID: 40404628 Free PMC article.
Risk of lymphoid malignancy associated with cancer predisposition genes.
Boddicker NJ, Mwangi R, Robinson DP, Allmer C, Rosenthal AC, Habermann TM, Feldman AL, Rimsza LM, King RL, Larson MC, Negaard BJ, Norman AD, Rajkumar N, Ansell SM, Dispenzieri A, Murray DL, Rajkumar V, Kumar S, Abeykoon JP; Regeneron Genetics Center; Nowakowski GS, Witzig TE, Novak AJ, Slager SL, Vachon CM, Cerhan JR. Boddicker NJ, et al. Blood Cancer J. 2025 Apr 19;15(1):71. doi: 10.1038/s41408-025-01283-z. Blood Cancer J. 2025. PMID: 40253392 Free PMC article.
Sequencing in over 50,000 cases identifies coding and structural variation underlying atrial fibrillation risk.
Choi SH, Jurgens SJ, Xiao L, Hill MC, Haggerty CM, Sveinbjörnsson G, Morrill VN, Marston NA, Weng LC, Pirruccello JP, Arnar DO, Gudbjartsson DF, Mantineo H, von Falkenhausen AS, Natale A, Tveit A, Geelhoed B, Roselli C, Van Wagoner DR, Darbar D, Haase D, Soliman EZ, Davogustto GE, Jun G, Calkins H, Anderson JL, Brody JA, Halford JL, Barnard J, Hokanson JE, Smith JD, Bis JC, Young K, Johnson LSB, Risch L, Gula LJ, Kwee LC, Chaffin MD, Kühne M, Preuss M, Gupta N, Nafissi NA, Smith NL, Nilsson PM, van der Harst P, Wells QS, Judy RL, Schnabel RB, Johnson R, Smit RAJ, Gabriel S, Knight S, Furukawa T, Blackwell TW, Nauffal V, Wang X, Min YI, Yoneda ZT, Laksman ZWM, Bezzina CR, Alonso A, Psaty BM, Albert CM, Arking DE, Roden DM, Chasman DI, Rader DJ, Conen D, McManus DD, Fatkin D, Benjamin EJ, Boerwinkle E, Marcus GM, Christophersen IE, Smith JG, Roberts JD, Raffield LM, Shoemaker MB, Cho MH, Cutler MJ, Rienstra M, Chung MK, S Olesen M, Sinner MF, Sotoodehnia N, Kirchhof P, Loos RJF, Nazarian S, Mohanty S, Damrauer SM, Kaab S, Heckbert SR, Redline S, Shah SH, Tanaka T, Ebana Y; Regeneron Genetics Center; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium; Holm H, Stefansson K, … See abstract for full author list ➔ Choi SH, et al. Nat Genet. 2025 Mar;57(3):548-562. doi: 10.1038/s41588-025-02074-9. Epub 2025 Mar 6. Nat Genet. 2025. PMID: 40050430
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. Science. 2025 Feb 7;387(6734):eadp4753. doi: 10.1126/science.adp4753. Epub 2025 Feb 7. Science. 2025. PMID: 39913582
Characterization of the Cystic Phenotype Associated with Monoallelic ALG8 and ALG9 Pathogenic Variants.
Jawaid T, Elbarougy DE, Lavu S, Buia G, Senum SR, Olinger E, Yang H, McDonnell SK, Bublitz JT, Ma J, Audrézet MP, Madsen CD, Schauer RS, Baker TA, Gregory AV, Orr SE, Barroso-Gil M, Neatu R, Joli G, Dahl NK, Kline TL, Gillion V, Dahan K, Jouret F, Perrone RD, Steinman TI, Peters DJM, Gitomer BY, Watnick TJ, Coto E, Chebib FT, Hogan MC, Olson JE, Larson NB, Ars E, Halbritter J, Demoulin N, Torres VE, Sayer JA, Cornec-Le Gall E, Harris PC; Genomics England Research Consortium, UK Biobank, HALT PKD, DIPAK, TAME PKD, Genkyst studies, Mayo Clinic Biobank, and Regeneron Genetics Center. Jawaid T, et al. J Am Soc Nephrol. 2025 Jun 1;36(6):1056-1071. doi: 10.1681/ASN.0000000613. Epub 2025 Feb 3. J Am Soc Nephrol. 2025. PMID: 39899384
Author Correction: 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. 2025 Jan;637(8047):E26. doi: 10.1038/s41586-024-08571-x. Nature. 2025. PMID: 39779867 Free PMC article. No abstract available.
The impact of common and rare genetic variants on bradyarrhythmia development.
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. Weng LC, et al. Nat Genet. 2025 Jan;57(1):53-64. doi: 10.1038/s41588-024-01978-2. Epub 2025 Jan 2. Nat Genet. 2025. PMID: 39747593 Free PMC article.
53 results