Ingvild Aukrust

Bergen, Norway

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 45 publications

Early-Onset Stargardt Disease Caused by Homozygosity of a Complex ABCA4 Allele from Eastern Africa: Two Case Reports.

Early-Onset Stargardt Disease Caused by Homozygosity of a Complex ABCA4 Allele from Eastern Africa: Two Case Reports.

Journal: Case reports in ophthalmology

Published: April 09, 2025

Functional Characterization of ABCA4 Missense Variants Aids Variant Interpretation and Phenotype Prediction in Patients With ABCA4-Retinal Dystrophies.

Functional Characterization of ABCA4 Missense Variants Aids Variant Interpretation and Phenotype Prediction in Patients With ABCA4-Retinal Dystrophies.

Journal: Investigative ophthalmology & visual science

Published: August 01, 2024

Epigenomic and phenotypic characterization of DEGCAGS syndrome.

Epigenomic and phenotypic characterization of DEGCAGS syndrome.

Journal: European journal of human genetics : EJHG

Published: March 05, 2024

Comparison of the ABC and ACMG systems for variant classification.

Comparison of the ABC and ACMG systems for variant classification.

Journal: European journal of human genetics : EJHG

Published: December 19, 2023

Functional characterization of HNF4A gene variants identify promoter and cell line specific transactivation effects.

Functional characterization of HNF4A gene variants identify promoter and cell line specific transactivation effects.

Journal: Human molecular genetics

Published: October 27, 2023

Clinical Cases and the Molecular Profiling of a Novel Childhood Encephalopathy-Causing GNAO1 Mutation P170R.

Clinical Cases and the Molecular Profiling of a Novel Childhood Encephalopathy-Causing GNAO1 Mutation P170R.

Journal: Cells

Published: July 24, 2023

Second international consensus report on gaps and opportunities for the clinical translation of precision diabetes medicine.

Second international consensus report on gaps and opportunities for the clinical translation of precision diabetes medicine.

Journal: Nature medicine

Published: May 17, 2023

The use of precision diagnostics for monogenic diabetes: a systematic review and expert opinion.

The use of precision diagnostics for monogenic diabetes: a systematic review and expert opinion.

Journal: Communications medicine

Published: May 10, 2023

A Systematic Review of the use of Precision Diagnostics in Monogenic Diabetes.

A Systematic Review of the use of Precision Diagnostics in Monogenic Diabetes.

Journal: medRxiv : the preprint server for health sciences

Published: May 03, 2023

Characterisation of HNF1A variants in paediatric diabetes in Norway using functional and clinical investigations to unmask phenotype and monogenic diabetes.

Characterisation of HNF1A variants in paediatric diabetes in Norway using functional and clinical investigations to unmask phenotype and monogenic diabetes.

Journal: Diabetologia

Published: February 11, 2023

Functional analyses of rare germline BRCA1 variants by transcriptional activation and homologous recombination repair assays.

Functional analyses of rare germline BRCA1 variants by transcriptional activation and homologous recombination repair assays.

Journal: BMC cancer

Published: January 25, 2023

Functional Analyses of Rare Germline Missense BRCA1 Variants Located within and outside Protein Domains with Known Functions.

Functional Analyses of Rare Germline Missense BRCA1 Variants Located within and outside Protein Domains with Known Functions.

Journal: Genes

Published: December 14, 2022

Showing 1-12 of 45

Last Updated: 09/26/2026