Publications by authors named "Ingvild Aukrust"

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Early-Onset Stargardt Disease Caused by Homozygosity of a Complex Allele from Eastern Africa: Two Case Reports.
Sigrid Aslaksen, Eirik Bratland, Mari Hamre Bu, Ingvild Aukrust, Cecilie Bredrup

Case Rep Ophthalmol· October 2025

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Epigenomic and phenotypic characterization of DEGCAGS syndrome.
Karim Karimi, Denisa Weis, Ingvild Aukrust, Tzung-Chien Hsieh, Marie Horackova

Eur J Hum Genet· December 2024

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Functional Characterization of ABCA4 Missense Variants Aids Variant Interpretation and Phenotype Prediction in Patients With ABCA4-Retinal Dystrophies.
Sigrid Aslaksen, Ingvild Aukrust, Laurie Molday, Josephine Prener Holtan, Ragnhild Wivestad Jansson

Invest Ophthalmol Vis Sci· August 2024

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Comparison of the ABC and ACMG systems for variant classification.
Gunnar Houge, Eirik Bratland, Ingvild Aukrust, Kristian Tveten, Gabrielė Žukauskaitė

Eur J Hum Genet· July 2024

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Functional characterization of HNF4A gene variants identify promoter and cell line specific transactivation effects.
Alba Kaci, Marie Holm Solheim, Trine Silgjerd, Jorunn Hjaltadottir, Lorentze Hope Hornnes, Ingvild Aukrust

Hum Mol Genet· May 2024

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Characterisation of HNF1A variants in paediatric diabetes in Norway using functional and clinical investigations to unmask phenotype and monogenic diabetes.
Pernille Svalastoga, Alba Kaci, Janne Molnes, Marie H Solheim, Bente B Johansson, Ingvild Aukrust

Diabetologia· December 2023

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The use of precision diagnostics for monogenic diabetes: a systematic review and expert opinion.
Rinki Murphy, Kevin Colclough, Toni I Pollin, Jennifer M Ikle, Pernille Svalastoga, Ingvild Aukrust

Commun Med (Lond)· October 2023

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Second international consensus report on gaps and opportunities for the clinical translation of precision diabetes medicine.
Deirdre K Tobias, Jordi Merino, Abrar Ahmad, Catherine Aiken, Jamie L Benham, Ingvild Aukrust

Nat Med· October 2023

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Clinical Cases and the Molecular Profiling of a Novel Childhood Encephalopathy-Causing Mutation P170R.
Yonika A Larasati, Gonzalo P Solis, Alexey Koval, Silja T Griffiths, Ragnhild Berentsen, Ingvild Aukrust

Cells· October 2023

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Functional analyses of rare germline BRCA1 variants by transcriptional activation and homologous recombination repair assays.
Nicola Bassi, Henrikke Nilsen Hovland, Kashif Rasheed, Elisabeth Jarhelle, Nikara Pedersen, Ingvild Aukrust

BMC Cancer· April 2023

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A Systematic Review of the use of Precision Diagnostics in Monogenic Diabetes.
Rinki Murphy, Kevin Colclough, Toni I Pollin, Jennifer M Ikle, Pernille Svalastoga, Ingvild Aukrust

medRxiv· April 2023

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The contribution of functional HNF1A variants and polygenic susceptibility to risk of type 2 diabetes in ancestrally diverse populations.
Lauren A Stalbow, Michael H Preuss, Roelof A J Smit, Nathalie Chami, Lise Bjørkhaug, Ingvild Aukrust

Diabetologia· January 2023

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A novel splice-affecting variant with large population impact on diabetes in Greenland.
Anne Cathrine Baun Thuesen, Frederik Filip Stæger, Alba Kaci, Marie Holm Solheim, Ingvild Aukrust

Lancet Reg Health Eur· January 2023

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Functional Analyses of Rare Germline Missense Variants Located within and outside Protein Domains with Known Functions.
Henrikke Nilsen Hovland, Eunice Kabanyana Mchaina, Hildegunn Høberg-Vetti, Sarah Louise Ariansen, Wenche Sjursen, Ingvild Aukrust

Genes (Basel)· January 2023

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BRCA1 Norway: comparison of classification for BRCA1 germline variants detected in families with suspected hereditary breast and ovarian cancer between different laboratories.
Henrikke N Hovland, Rafal Al-Adhami, Sarah Louise Ariansen, Marijke Van Ghelue, Wenche Sjursen, Ingvild Aukrust

Fam Cancer· October 2022

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Fat Malabsorption and Ursodeoxycholic Acid Treatment in Children With Reduced Organic Solute Transporter-α () Expression.
Rune Rose Tronstad, Siren Berland, Erling Tjora, Khadija El Jellas, Ingvild Aukrust

JPGN Rep· August 2022

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Structural and biophysical characterization of transcription factor HNF-1A as a tool to study MODY3 diabetes variants.
Laura Kind, Arne Raasakka, Janne Molnes, Ingvild Aukrust, Lise Bjørkhaug

J Biol Chem· April 2022

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Pellino-2 in nonimmune cells: novel interaction partners and intracellular localization.
Ileana Cristea, Ove Bruland, Ingvild Aukrust, Eyvind Rødahl, Cecilie Bredrup

FEBS Lett· December 2021

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Chip Protein U-Box Domain Truncation Affects Purkinje Neuron Morphology and Leads to Behavioral Changes in Zebrafish.
Yasaman Pakdaman, Elsa Denker, Eirik Austad, William H J Norton, Hans O Rolfsnes, Ingvild Aukrust

Front Mol Neurosci· September 2021

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Clinical features and molecular genetics of patients with ABCA4-retinal dystrophies.
Josephine Prener Holtan, Ingvild Aukrust, Ragnhild Wivestad Jansson, Siren Berland, Ove Bruland

Acta Ophthalmol· August 2021

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Genetic Dominant Variants in Segregating in Families with SCA48, Display In Vitro Functional Impairments Indistinctive from Recessive Variants Associated with SCAR16.
Yasaman Pakdaman, Siren Berland, Helene J Bustad, Sigrid Erdal, Bryony A Thompson, Ingvild Aukrust

Int J Mol Sci· May 2021

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Functional evaluation of 16 SCHAD missense variants: Only amino acid substitutions causing congenital hyperinsulinism of infancy lead to loss-of-function phenotypes in vitro.
Kelly Velasco, Johanna L St-Louis, Henrikke N Hovland, Nels Thompson, Åsta Ottesen, Ingvild Aukrust

J Inherit Metab Dis· January 2021

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Unsupervised Clustering of Missense Variants in HNF1A Using Multidimensional Functional Data Aids Clinical Interpretation.
Sara Althari, Laeya A Najmi, Amanda J Bennett, Ingvild Aukrust, Jana K Rundle

Am J Hum Genet· October 2020

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Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7.
Laura Castilla-Vallmanya, Kaja K Selmer, Clémantine Dimartino, Raquel Rabionet, Bernardo Blanco-Sánchez, Ingvild Aukrust

Genet Med· July 2020

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Functional Analyses of HNF1A-MODY Variants Refine the Interpretation of Identified Sequence Variants.
Jana Malikova, Alba Kaci, Petra Dusatkova, Ingvild Aukrust, Janniche Torsvik

J Clin Endocrinol Metab· April 2020

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