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786 results

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Page 1
Genetic associations of neuropathic pain and sensory profile in a deeply phenotyped neuropathy cohort.
Åkerlund M, Baskozos G, Li W, Themistocleous AC, Pascal MMV, Rayner NW, Attal N, Baron R, Baudic S, Bennedsgaard K, Bouhassira D, Comini M, Crombez G, Faber CG, Finnerup NB, Gierthmühlen J, Granovsky Y, Gylfadottir SS, Hébert HL, Jensen TS, John J, Kemp HI, Lauria G, Laycock H, Meng W, Nilsen KB, Palmer C, Rice ASC, Serra J, Smith BH, Tesfaye S, Topaz LS, Veluchamy A, Vollert J, Yarnitsky D, van Zuydam N, Zwart JA, McCarthy MI, Lyssenko V, Bennett DL. Åkerlund M, et al. Among authors: mccarthy mi. Pain. 2024 Oct 29. doi: 10.1097/j.pain.0000000000003463. Online ahead of print. Pain. 2024. PMID: 39471050
SLC16A8 is a causal contributor to age-related macular degeneration risk.
Nouri N, Gussler BH, Stockwell A, Truong T, Kang GJ, Browder KC, Malato Y, Sene A, Van Everen S, Wykoff CC, Brown D, Fu A, Palmer JD, Lima de Carvalho JR, Ullah E, Al Rawi R, Chew EY, Zein WM, Guan B, McCarthy MI, Hofmann JW, Chaney SY, Jasper H, Yaspan BL. Nouri N, et al. Among authors: mccarthy mi. NPJ Genom Med. 2024 Oct 28;9(1):50. doi: 10.1038/s41525-024-00442-8. NPJ Genom Med. 2024. PMID: 39468037 Free PMC article.
Role of human plasma metabolites in prediabetes and type 2 diabetes from the IMI-DIRECT study.
Sharma S, Dong Q, Haid M, Adam J, Bizzotto R, Fernandez-Tajes JJ, Jones AG, Tura A, Artati A, Prehn C, Kastenmüller G, Koivula RW, Franks PW, Walker M, Forgie IM, Giordano G, Pavo I, Ruetten H, Dermitzakis M, McCarthy MI, Pedersen O, Schwenk JM, Tsirigos KD, De Masi F, Brunak S, Viñuela A, Mari A, McDonald TJ, Kokkola T, Adamski J, Pearson ER, Grallert H. Sharma S, et al. Among authors: mccarthy mi. Diabetologia. 2024 Dec;67(12):2804-2818. doi: 10.1007/s00125-024-06282-6. Epub 2024 Sep 30. Diabetologia. 2024. PMID: 39349772 Free PMC article.
Large-scale exome array summary statistics resources for glycemic traits to aid effector gene prioritization.
Willems SM, Ng NHJ, Fernandez J, Fine RS, Wheeler E, Wessel J, Kitajima H, Marenne G, Sim X, Yaghootkar H, Wang S, Chen S, Chen Y, Chen YI, Grarup N, Li-Gao R, Varga TV, Asimit JL, Feng S, Strawbridge RJ, Kleinbrink EL, Ahluwalia TS, An P, Appel EV, Arking DE, Auvinen J, Bielak LF, Bihlmeyer NA, Bork-Jensen J, Brody JA, Campbell A, Chu AY, Davies G, Demirkan A, Floyd JS, Giulianini F, Guo X, Gustafsson S, Jackson AU, Jakobsdottir J, Järvelin MR, Jensen RA, Kanoni S, Keinanen-Kiukaanniemi S, Li M, Lu Y, Luan J, Manning AK, Marten J, Meidtner K, Mook-Kanamori DO, Muka T, Pistis G, Prins B, Rice KM, Sanna S, Smith AV, Smith JA, Southam L, Stringham HM, Tragante V, van der Laan SW, Warren HR, Yao J, Yiorkas AM, Zhang W, Zhao W, Graff M, Highland HM, Justice AE, Marouli E, Medina-Gomez C, Afaq S, Alhejily WA, Amin N, Asselbergs FW, Bonnycastle LL, Bots ML, Brandslund I, Chen J, Danesh J, de Mutsert R, Dehghan A, Ebeling T, Elliott P; EPIC-Interact Consortium; Farmaki AE, Faul JD, Franks PW, Franks S, Fritsche A, Gjesing AP, Goodarzi MO, Gudnason V, Hallmans G, Harris TB, Herzig KH, Hivert MF, Jørgensen T, Jørgensen ME, Jousilahti P, Kajantie E, Karaleftheri M, Kardia SLR, Kinnunen L, K… See abstract for full author list ➔ Willems SM, et al. Among authors: mccarthy mi. Wellcome Open Res. 2023 Oct 20;8:483. doi: 10.12688/wellcomeopenres.18754.1. eCollection 2023. Wellcome Open Res. 2023. PMID: 39280063 Free PMC article.
Integrated clinical risk prediction of type 2 diabetes with a multifactorial polygenic risk score.
Ritchie SC, Taylor HJ, Liang Y, Manikpurage HD, Pennells L, Foguet C, Abraham G, Gibson JT, Jiang X, Liu Y, Xu Y, Kim LG, Mahajan A, McCarthy MI, Kaptoge S, Lambert SA, Wood A, Sim X, Collins FS, Denny JC, Danesh J, Butterworth AS, Di Angelantonio E, Inouye M. Ritchie SC, et al. Among authors: mccarthy mi. medRxiv [Preprint]. 2024 Sep 23:2024.08.22.24312440. doi: 10.1101/2024.08.22.24312440. medRxiv. 2024. PMID: 39228710 Free PMC article. Preprint.
Single cell multiome profiling of pancreatic islets reveals physiological changes in cell type-specific regulation associated with diabetes risk.
Mummey HM, Elison W, Korgaonkar K, Elgamal RM, Kudtarkar P, Griffin E, Benaglio P, Miller M, Jha A, Fox JEM, McCarthy MI, Preissl S, Gloyn AL, MacDonald PE, Gaulton KJ. Mummey HM, et al. Among authors: mccarthy mi. bioRxiv [Preprint]. 2024 Aug 6:2024.08.03.606460. doi: 10.1101/2024.08.03.606460. bioRxiv. 2024. PMID: 39149326 Free PMC article. Preprint.
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. Among authors: mccarthy mi. medRxiv [Preprint]. 2024 Jul 15:2024.07.15.24310282. doi: 10.1101/2024.07.15.24310282. medRxiv. 2024. PMID: 39072045 Free PMC article. Preprint.
Publisher Correction: Understanding the genetic complexity of puberty timing across the allele frequency spectrum.
Kentistou KA, Kaisinger LR, Stankovic S, Vaudel M, Mendes de Oliveira E, Messina A, Walters RG, Liu X, Busch AS, Helgason H, Thompson DJ, Santoni F, Petricek KM, Zouaghi Y, Huang-Doran I, Gudbjartsson DF, Bratland E, Lin K, Gardner EJ, Zhao Y, Jia RY, Terao C, Riggan MJ, Bolla MK, Yazdanpanah M, Yazdanpanah N, Bradfield JP, Broer L, Campbell A, Chasman DI, Cousminer DL, Franceschini N, Franke LH, Girotto G, He C, Järvelin MR, Joshi PK, Kamatani Y, Karlsson R, Luan J, Lunetta KL, Mägi R, Mangino M, Medland SE, Meisinger C, Noordam R, Nutile T, Concas MP, Polašek O, Porcu E, Ring SM, Sala C, Smith AV, Tanaka T, van der Most PJ, Vitart V, Wang CA, Willemsen G, Zygmunt M, Ahearn TU, Andrulis IL, Anton-Culver H, Antoniou AC, Auer PL, Barnes CLK, Beckmann MW, Berrington de Gonzalez A, Bogdanova NV, Bojesen SE, Brenner H, Buring JE, Canzian F, Chang-Claude J, Couch FJ, Cox A, Crisponi L, Czene K, Daly MB, Demerath EW, Dennis J, Devilee P, De Vivo I, Dörk T, Dunning AM, Dwek M, Eriksson JG, Fasching PA, Fernandez-Rhodes L, Ferreli L, Fletcher O, Gago-Dominguez M, García-Closas M, García-Sáenz JA, González-Neira A, Grallert H, Guénel P, Haiman CA, Hall P, Hamann U, Hakonarson H, Hart RJ, H… See abstract for full author list ➔ Kentistou KA, et al. Among authors: mccarthy mi. Nat Genet. 2024 Aug;56(8):1763-1764. doi: 10.1038/s41588-024-01857-w. Nat Genet. 2024. PMID: 38982295 Free PMC article. No abstract available.
Understanding the genetic complexity of puberty timing across the allele frequency spectrum.
Kentistou KA, Kaisinger LR, Stankovic S, Vaudel M, Mendes de Oliveira E, Messina A, Walters RG, Liu X, Busch AS, Helgason H, Thompson DJ, Santoni F, Petricek KM, Zouaghi Y, Huang-Doran I, Gudbjartsson DF, Bratland E, Lin K, Gardner EJ, Zhao Y, Jia RY, Terao C, Riggan MJ, Bolla MK, Yazdanpanah M, Yazdanpanah N, Bradfield JP, Broer L, Campbell A, Chasman DI, Cousminer DL, Franceschini N, Franke LH, Girotto G, He C, Järvelin MR, Joshi PK, Kamatani Y, Karlsson R, Luan J, Lunetta KL, Mägi R, Mangino M, Medland SE, Meisinger C, Noordam R, Nutile T, Concas MP, Polašek O, Porcu E, Ring SM, Sala C, Smith AV, Tanaka T, van der Most PJ, Vitart V, Wang CA, Willemsen G, Zygmunt M, Ahearn TU, Andrulis IL, Anton-Culver H, Antoniou AC, Auer PL, Barnes CLK, Beckmann MW, Berrington de Gonzalez A, Bogdanova NV, Bojesen SE, Brenner H, Buring JE, Canzian F, Chang-Claude J, Couch FJ, Cox A, Crisponi L, Czene K, Daly MB, Demerath EW, Dennis J, Devilee P, De Vivo I, Dörk T, Dunning AM, Dwek M, Eriksson JG, Fasching PA, Fernandez-Rhodes L, Ferreli L, Fletcher O, Gago-Dominguez M, García-Closas M, García-Sáenz JA, González-Neira A, Grallert H, Guénel P, Haiman CA, Hall P, Hamann U, Hakonarson H, Hart RJ, H… See abstract for full author list ➔ Kentistou KA, et al. Among authors: mccarthy mi. Nat Genet. 2024 Jul;56(7):1397-1411. doi: 10.1038/s41588-024-01798-4. Epub 2024 Jul 1. Nat Genet. 2024. PMID: 38951643 Free PMC article.
SMIM1 absence is associated with reduced energy expenditure and excess weight.
Stefanucci L, Moslemi C, Tomé AR, Virtue S, Bidault G, Gleadall NS, Watson LPE, Kwa JE, Burden F, Farrow S; DBDS Genetic Consortium; Chen J; MAGIC; Võsa U, Burling K, Walker L, Ord J, Barker P, Warner J, Frary A, Renhstrom K, Ashford SE, Piper J, Biggs G, Erber WN, Hoffman GJ, Schoenmakers N, Erikstrup C, Rieneck K, Dziegiel MH, Ullum H, Azzu V, Vacca M, Aparicio HJ, Hui Q, Cho K, Sun YV, Wilson PW, Bayraktar OA, Vidal-Puig A, Ostrowski SR, Astle WJ, Olsson ML, Storry JR, Pedersen OB, Ouwehand WH, Chatterjee K, Vuckovic D, Frontini M. Stefanucci L, et al. Med. 2024 Sep 13;5(9):1083-1095.e6. doi: 10.1016/j.medj.2024.05.015. Epub 2024 Jun 20. Med. 2024. PMID: 38906141 Free article.
786 results