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Unsupervised Clustering of Missense Variants in HNF1A Using Multidimensional Functional Data Aids Clinical Interpretation.
Althari S, Najmi LA, Bennett AJ, Aukrust I, Rundle JK, Colclough K, Molnes J, Kaci A, Nawaz S, van der Lugt T, Hassanali N, Mahajan A, Molven A, Ellard S, McCarthy MI, Bjørkhaug L, Njølstad PR, Gloyn AL. Althari S, et al. Among authors: kaci a. Am J Hum Genet. 2020 Oct 1;107(4):670-682. doi: 10.1016/j.ajhg.2020.08.016. Epub 2020 Sep 9. Am J Hum Genet. 2020. PMID: 32910913 Free PMC article.
A novel splice-affecting HNF1A variant with large population impact on diabetes in Greenland.
Thuesen ACB, Stæger FF, Kaci A, Solheim MH, Aukrust I, Jørsboe E, Santander CG, Andersen MK, Li Z, Gilly A, Stinson SE, Gjesing AP, Bjerregaard P, Pedersen ML, Larsen CVL, Grarup N, Jørgensen ME, Zeggini E, Bjørkhaug L, Njølstad PR, Albrechtsen A, Moltke I, Hansen T. Thuesen ACB, et al. Among authors: kaci a. Lancet Reg Health Eur. 2022 Nov 11;24:100529. doi: 10.1016/j.lanepe.2022.100529. eCollection 2023 Jan. Lancet Reg Health Eur. 2022. PMID: 36649380 Free PMC article.
Characterisation of HNF1A variants in paediatric diabetes in Norway using functional and clinical investigations to unmask phenotype and monogenic diabetes.
Svalastoga P, Kaci A, Molnes J, Solheim MH, Johansson BB, Krogvold L, Skrivarhaug T, Valen E, Johansson S, Molven A, Sagen JV, Søfteland E, Bjørkhaug L, Tjora E, Aukrust I, Njølstad PR. Svalastoga P, et al. Among authors: kaci a. Diabetologia. 2023 Dec;66(12):2226-2237. doi: 10.1007/s00125-023-06012-4. Epub 2023 Oct 5. Diabetologia. 2023. PMID: 37798422 Free PMC article.
In Vitro Functional Analysis Can Aid Precision Diagnostics of Hepatocyte Nuclear Factor 1B Maturity-Onset Diabetes of the Young.
Pavithram A, Zhang H, Maloney KA, Ringdal M, Kaci A, Sagen JV, Kleinberger J, Jeng LJB, Njølstad PR, Pollin TI, Molnes J, Johansson BB. Pavithram A, et al. Among authors: kaci a. J Mol Diagn. 2024 Apr 3:S1525-1578(24)00075-8. doi: 10.1016/j.jmoldx.2024.03.006. Online ahead of print. J Mol Diagn. 2024. PMID: 38575066 Free article.
23 results