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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: cebola i. 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.
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: cebola i. 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.
Liver kinase B1 (LKB1) regulates the epigenetic landscape of mouse pancreatic beta cells.
Haberman N, Cheung R, Pizza G, Cvetesic N, Nagy D, Maude H, Blazquez L, Lenhard B, Cebola I, Rutter GA, Martinez-Sanchez A. Haberman N, et al. Among authors: cebola i. bioRxiv [Preprint]. 2024 May 15:2024.05.13.593867. doi: 10.1101/2024.05.13.593867. bioRxiv. 2024. Update in: FASEB J. 2024 Aug 31;38(16):e23885. doi: 10.1096/fj.202401078R PMID: 38798508 Free PMC article. Updated. Preprint.
Blood DNA methylation profiling identifies cathepsin Z dysregulation in pulmonary arterial hypertension.
Ulrich A, Wu Y, Draisma H, Wharton J, Swietlik EM, Cebola I, Vasilaki E, Balkhiyarova Z, Jarvelin MR, Auvinen J, Herzig KH, Coghlan JG, Lordan J, Church C, Howard LS, Pepke-Zaba J, Toshner M, Wort SJ, Kiely DG, Condliffe R, Lawrie A, Gräf S, Morrell NW, Wilkins MR, Prokopenko I, Rhodes CJ. Ulrich A, et al. Among authors: cebola i. Nat Commun. 2024 Jan 6;15(1):330. doi: 10.1038/s41467-023-44683-0. Nat Commun. 2024. PMID: 38184627 Free PMC article.
Rare variant association analysis in 51,256 type 2 diabetes cases and 370,487 controls informs the spectrum of pathogenicity of monogenic diabetes genes.
Schroeder P, Mandla R, Huerta-Chagoya A, Alkanak A, Nagy D, Szczerbinski L, Madsen JGS, Cole JB, Porneala B, Westerman K, Li JH, Pollin TI, Florez JC, Gloyn AL, Cebola I, Manning A, Leong A, Udler M, Mercader JM. Schroeder P, et al. Among authors: cebola i. medRxiv [Preprint]. 2023 Sep 29:2023.09.28.23296244. doi: 10.1101/2023.09.28.23296244. medRxiv. 2023. Update in: Nat Genet. 2024 Nov;56(11):2370-2379. doi: 10.1038/s41588-024-01947-9 PMID: 37808701 Free PMC article. Updated. Preprint.
Pre-RNA splicing in metabolic homeostasis and liver disease.
Jobbins AM, Yu S, Paterson HAB, Maude H, Kefala-Stavridi A, Speck C, Cebola I, Vernia S. Jobbins AM, et al. Among authors: cebola i. Trends Endocrinol Metab. 2023 Dec;34(12):823-837. doi: 10.1016/j.tem.2023.08.007. Epub 2023 Sep 4. Trends Endocrinol Metab. 2023. PMID: 37673766 Free article. Review.
Zooming into process-specific risk.
Maude H, Cebola I. Maude H, et al. Among authors: cebola i. Nat Metab. 2023 May;5(5):730-731. doi: 10.1038/s42255-023-00770-6. Nat Metab. 2023. PMID: 37253880 No abstract available.
35 results