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Page 1
Multi-ancestry polygenic mechanisms of type 2 diabetes.
Smith K, Deutsch AJ, McGrail C, Kim H, Hsu S, Huerta-Chagoya A, Mandla R, Schroeder PH, Westerman KE, Szczerbinski L, Majarian TD, Kaur V, Williamson A, Zaitlen N, Claussnitzer M, Florez JC, Manning AK, Mercader JM, Gaulton KJ, Udler MS. Smith K, et al. Among authors: mandla r. Nat Med. 2024 Apr;30(4):1065-1074. doi: 10.1038/s41591-024-02865-3. Epub 2024 Mar 5. Nat Med. 2024. PMID: 38443691 Free PMC article.
Genetic drivers of heterogeneity in type 2 diabetes pathophysiology.
Suzuki K, Hatzikotoulas K, Southam L, Taylor HJ, Yin X, Lorenz KM, Mandla R, Huerta-Chagoya A, Melloni GEM, Kanoni S, Rayner NW, Bocher O, Arruda AL, Sonehara K, Namba S, Lee SSK, Preuss MH, Petty LE, Schroeder P, Vanderwerff B, Kals M, Bragg F, Lin K, Guo X, Zhang W, Yao J, Kim YJ, Graff M, Takeuchi F, Nano J, Lamri A, Nakatochi M, Moon S, Scott RA, Cook JP, Lee JJ, Pan I, Taliun D, Parra EJ, Chai JF, Bielak LF, Tabara Y, Hai Y, Thorleifsson G, Grarup N, Sofer T, Wuttke M, Sarnowski C, Gieger C, Nousome D, Trompet S, Kwak SH, Long J, Sun M, Tong L, Chen WM, Nongmaithem SS, Noordam R, Lim VJY, Tam CHT, Joo YY, Chen CH, Raffield LM, Prins BP, Nicolas A, Yanek LR, Chen G, Brody JA, Kabagambe E, An P, Xiang AH, Choi HS, Cade BE, Tan J, Broadaway KA, Williamson A, Kamali Z, Cui J, Thangam M, Adair LS, Adeyemo A, Aguilar-Salinas CA, Ahluwalia TS, Anand SS, Bertoni A, Bork-Jensen J, Brandslund I, Buchanan TA, Burant CF, Butterworth AS, Canouil M, Chan JCN, Chang LC, Chee ML, Chen J, Chen SH, Chen YT, Chen Z, Chuang LM, Cushman M, Danesh J, Das SK, de Silva HJ, Dedoussis G, Dimitrov L, Doumatey AP, Du S, Duan Q, Eckardt KU, Emery LS, Evans DS, Evans MK, Fischer K, Floyd JS, Ford I… See abstract for full author list ➔ Suzuki K, et al. Among authors: mandla r. Nature. 2024 Mar;627(8003):347-357. doi: 10.1038/s41586-024-07019-6. Epub 2024 Feb 19. Nature. 2024. PMID: 38374256 Free PMC article.
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: mandla r. Science. 2025 Feb 7;387(6734):eadp4753. doi: 10.1126/science.adp4753. Epub 2025 Feb 7. Science. 2025. PMID: 39913582 Free PMC article.
Whole-genome sequencing in 333,100 individuals reveals rare non-coding single variant and aggregate associations with height.
Hawkes G, Beaumont RN, Li Z, Mandla R, Li X, Albert CM, Arnett DK, Ashley-Koch AE, Ashrani AA, Barnes KC, Boerwinkle E, Brody JA, Carson AP, Chami N, Chen YI, Chung MK, Curran JE, Darbar D, Ellinor PT, Fornage M, Gordeuk VR, Guo X, He J, Hwu CM, Kalyani RR, Kaplan R, Kardia SLR, Kooperberg C, Loos RJF, Lubitz SA, Minster RL, Naseri T, Viali S, Mitchell BD, Murabito JM, Palmer ND, Psaty BM, Redline S, Shoemaker MB, Silverman EK, Telen MJ, Weiss ST, Yanek LR, Zhou H; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium; Liu CT, North KE, Justice AE, Locke JM, Owens N, Murray A, Patel K, Frayling TM, Wright CF, Wood AR, Lin X, Manning A, Weedon MN. Hawkes G, et al. Among authors: mandla r. Nat Commun. 2024 Oct 3;15(1):8549. doi: 10.1038/s41467-024-52579-w. Nat Commun. 2024. PMID: 39362880 Free PMC article.
Rare variant analyses in 51,256 type 2 diabetes cases and 370,487 controls reveal the pathogenicity spectrum of monogenic diabetes genes.
Huerta-Chagoya A, Schroeder P, Mandla R, Li J, Morris L, Vora M, Alkanaq A, Nagy D, Szczerbinski L, Madsen JGS, Bonàs-Guarch S, Mollandin F, Cole JB, Porneala B, Westerman K, Li JH, Pollin TI, Florez JC, Gloyn AL, Carey DJ, Cebola I, Mirshahi UL, Manning AK, Leong A, Udler M, Mercader JM. Huerta-Chagoya A, et al. Among authors: mandla r. Nat Genet. 2024 Nov;56(11):2370-2379. doi: 10.1038/s41588-024-01947-9. Epub 2024 Oct 8. Nat Genet. 2024. PMID: 39379762 Free PMC article.
Multi-omics characterization of type 2 diabetes associated genetic variation.
Mandla R, Lorenz K, Yin X, Bocher O, Huerta-Chagoya A, Arruda AL, Piron A, Horn S, Suzuki K, Hatzikotoulas K, Southam L, Taylor H, Yang K, Hrovatin K, Tong Y, Lytrivi M, Rayner NW, Meigs JB, McCarthy MI, Mahajan A, Udler MS, Spracklen CN, Boehnke M, Vujkovic M, Rotter JI, Eizirik DL, Cnop M, Lickert H, Morris AP, Zeggini E, Voight BF, Mercader JM. Mandla R, et al. medRxiv [Preprint]. 2024 Jul 15:2024.07.15.24310282. doi: 10.1101/2024.07.15.24310282. medRxiv. 2024. PMID: 39072045 Free PMC article. Preprint.
Multi-ancestry genome-wide study in >2.5 million individuals reveals heterogeneity in mechanistic pathways of type 2 diabetes and complications.
Suzuki K, Hatzikotoulas K, Southam L, Taylor HJ, Yin X, Lorenz KM, Mandla R, Huerta-Chagoya A, Rayner NW, Bocher O, Arruda ALSV, Sonehara K, Namba S, Lee SSK, Preuss MH, Petty LE, Schroeder P, Vanderwerff B, Kals M, Bragg F, Lin K, Guo X, Zhang W, Yao J, Kim YJ, Graff M, Takeuchi F, Nano J, Lamri A, Nakatochi M, Moon S, Scott RA, Cook JP, Lee JJ, Pan I, Taliun D, Parra EJ, Chai JF, Bielak LF, Tabara Y, Hai Y, Thorleifsson G, Grarup N, Sofer T, Wuttke M, Sarnowski C, Gieger C, Nousome D, Trompet S, Kwak SH, Long J, Sun M, Tong L, Chen WM, Nongmaithem SS, Noordam R, Lim VJY, Tam CHT, Joo YY, Chen CH, Raffield LM, Prins BP, Nicolas A, Yanek LR, Chen G, Brody JA, Kabagambe E, An P, Xiang AH, Choi HS, Cade BE, Tan J, Broadaway KA, Williamson A, Kamali Z, Cui J, Adair LS, Adeyemo A, Aguilar-Salinas CA, Ahluwalia TS, Anand SS, Bertoni A, Bork-Jensen J, Brandslund I, Buchanan TA, Burant CF, Butterworth AS, Canouil M, Chan JCN, Chang LC, Chee ML, Chen J, Chen SH, Chen YT, Chen Z, Chuang LM, Cushman M, Danesh J, Das SK, de Silva HJ, Dedoussis G, Dimitrov L, Doumatey AP, Du S, Duan Q, Eckardt KU, Emery LS, Evans DS, Evans MK, Fischer K, Floyd JS, Ford I, Franco OH, Frayling TM, Freedm… See abstract for full author list ➔ Suzuki K, et al. Among authors: mandla r. medRxiv [Preprint]. 2023 Mar 31:2023.03.31.23287839. doi: 10.1101/2023.03.31.23287839. medRxiv. 2023. PMID: 37034649 Free PMC article. Preprint.
Multi-ancestry polygenic risk scores for the prediction of type 2 diabetes and complications in diverse ancestries.
Huerta-Chagoya A, Kim J, Mandla R, Lu Y, Suzuki K, Petty LE, Ng HK, Choi J, Lee S, Rout M, Lin K, Adair LS, Adeyemo A, Ahsan H, Akiyama M, An P, Anand SS, Becker DM, Bertoni AG, Bian Z, Bielak LF, Blangero J, Boehnke M, Bottinger EP, Bowden DW, Bragg F, Brody JA, Buchanan TA, Cade BE, Chai JF, Chambers JC, Chandak GR, Chang LC, Chang KM, Chee ML, Chen CH, Chen YT, Chen Z, Chen YI, Chen J, Chen G, Chen SH, Chen WM, Cheng CY, Cho YS, Choi HS, Chuang LM, Cruz M, Cushman M, Das SK, DeFronzo RA, deSilva HJ, Dimitrov L, Doumatey AP, Du S, Duan Q, Duggirala R, Emery LS, Engert JC, Evans DS, Evans MK, Finer S, Florez JC, Floyd JS, Fornage M, Frankel EG, Freedman BI, García-García L, Genter P, Gerstein HC, Goodarzi MO, Gordon-Larsen P, Graff M, Gross M, Guo Y, Guo X, Hai Y, Hanis CL, Hayes M, Horikoshi M, Howard AG, Hsu S, Hsueh W, Huang W, Huang M, Hung YJ, Hwang MY, Hwu CM, Ichihara S, Igase M, Ipp E, Islam MT, Isono M, Jang HM, Jasmine F, Jonas JB, Joo YY, Kabagambe E, Kadowaki T, Kamatani Y, Kandeel FR, Kardia SLR, Karlson EW, Kasturiratne A, Kato N, Katsuya T, Kaur V, Kawaguchi T, Keaton JM, Kho AN, Khor CC, Kibriya M, Kim BJ, Koh WP, Kohara K, Kooner JS, Kooperberg C, Kreienka… See abstract for full author list ➔ Huerta-Chagoya A, et al. Among authors: mandla r. medRxiv [Preprint]. 2025 Jul 23:2025.07.21.25331778. doi: 10.1101/2025.07.21.25331778. medRxiv. 2025. PMID: 40778152 Free PMC article. Preprint.
Publisher Correction: Rare variant analyses in 51,256 type 2 diabetes cases and 370,487 controls reveal the pathogenicity spectrum of monogenic diabetes genes.
Huerta-Chagoya A, Schroeder P, Mandla R, Li J, Morris L, Vora M, Alkanaq A, Nagy D, Szczerbinski L, Madsen JGS, Bonàs-Guarch S, Mollandin F, Cole JB, Porneala B, Westerman K, Li JH, Pollin TI, Florez JC, Gloyn AL, Carey DJ, Cebola I, Mirshahi UL, Manning AK, Leong A, Udler M, Mercader JM. Huerta-Chagoya A, et al. Among authors: mandla r. Nat Genet. 2024 Nov;56(11):2576. doi: 10.1038/s41588-024-01986-2. Nat Genet. 2024. PMID: 39438755 Free PMC article. No abstract available.
48 results