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Genes|February 25, 2023
Functional Analyses of Rare Germline Missense BRCA1 Variants Located within and outside Protein Domains with Known FunctionsHenrikke Nilsen Hovland, Eunice Kabanyana Mchaina, Hildegunn Høberg-Vetti, et al.
Cells|October 27, 2023
Clinical Cases and the Molecular Profiling of a Novel Childhood Encephalopathy-Causing GNAO1 Mutation P170RYonika A Larasati, Gonzalo P Solis, Alexey Koval, et al.
Bioscience Reports|April 12, 2017
In vitro characterization of six STUB1 variants in spinocerebellar ataxia 16 reveals altered structural properties for the encoded CHIP proteinsYasaman Pakdaman, Monica Sanchez-Guixé, Rune Kleppe, et al.
The Journal of Biological Chemistry|January 9, 2013
SUMOylation of pancreatic glucokinase regulates its cellular stability and activityIngvild Aukrust, Lise Bjørkhaug, Maria Negahdar, et al.
European Journal of Human Genetics : EJHG|June 22, 2017
Phenotypic extremes of BICD2-opathies: from lethal, congenital muscular atrophy with arthrogryposis to asymptomatic with subclinical featuresMarkus Storbeck, Beate Horsberg Eriksen, Andreas Unger, et al.
Investigative Ophthalmology & Visual Science|August 1, 2024
Functional Characterization of ABCA4 Missense Variants Aids Variant Interpretation and Phenotype Prediction in Patients With ABCA4-Retinal DystrophiesSigrid Aslaksen, Ingvild Aukrust, Laurie Molday, et al.
Journal of Medical Genetics|January 12, 2020
De novo variants in SUPT16H cause neurodevelopmental disorders associated with corpus callosum abnormalitiesRoya Bina, Dena Matalon, Brieana Fregeau, et al.
Molecular and Cellular Endocrinology|September 5, 2013
GCK-MODY diabetes as a protein misfolding disease: the mutation R275C promotes protein misfolding, self-association and cellular degradationMaria Negahdar, Ingvild Aukrust, Janne Molnes, et al.
Diabetologia|December 4, 2016
Targeted next-generation sequencing reveals MODY in up to 6.5% of antibody-negative diabetes cases listed in the Norwegian Childhood Diabetes RegistryBente B Johansson, Henrik U Irgens, Janne Molnes, et al.
Acta Ophthalmologica|December 1, 2020
Clinical features and molecular genetics of patients with ABCA4-retinal dystrophiesJosephine Prener Holtan, Ingvild Aukrust, Ragnhild Wivestad Jansson, et al.
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