Alba Kaci

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Publications (10)

• Antimicrobial resistance patterns in Streptococcus dysgalactiae in a One Health perspective.
  Frontiers in microbiology 2024 DOI: 10.3389/fmicb.2024.1423762
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• In Vitro Functional Analysis Can Aid Precision Diagnostics of HNF1B-MODY
  The Journal of Molecular Diagnostics 2024 DOI: 10.1016/j.jmoldx.2024.03.006
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• Functional characterization of HNF4A gene variants identify promoter and cell line specific transactivation effects.
  Human molecular genetics 2024 DOI: 10.1093/hmg/ddae027
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• Characterisation of HNF1A variants in paediatric diabetes in Norway using functional and clinical investigations to unmask phenotype and monogenic diabetes
  Diabetologia 2023 DOI: 10.1007/s00125-023-06012-4
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• Genomic epidemiology of Streptococcus dysgalactiae subsp. equisimilis strains causing invasive disease in Norway during 2018.
  Frontiers in microbiology 2023 DOI: 10.3389/fmicb.2023.1171913
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• A novel splice-affecting HNF1A variant with large population impact on diabetes in Greenland.
  The Lancet regional health. Europe 2022 DOI: 10.1016/j.lanepe.2022.100529
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• Unsupervised Clustering of Missense Variants in HNF1A Using Multidimensional Functional Data Aids Clinical Interpretation.
  American journal of human genetics 2020 DOI: 10.1016/j.ajhg.2020.08.016
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• Functional Analyses of HNF1A-MODY Variants Refine the Interpretation of Identified Sequence Variants
  The Journal of Clinical Endocrinology & Metabolism 2020 DOI: 10.1210/clinem/dgaa051
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• Unsupervised clustering of missense variants in the HNF1A gene using multidimensional functional data aids clinical interpretation
  2019 DOI: 10.1101/19010900
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• The E3 SUMO ligase PIASγ is a novel interaction partner regulating the activity of diabetes associated hepatocyte nuclear factor-1α.
  Scientific reports 2018 DOI: 10.1038/s41598-018-29448-w
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