Author
University of BergenORCID 0000-0001-8893-1915Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
3 papers
Recent·Most cited
Ksenia G. Kuznetsova, Jakub Vašíček, Dafni Skiadopoulou…·Marc Vaudel
The paper examines proteomic changes caused by MODY mutations in HNF1A and HNF1B using cell line models, finding suppressed energy metabolism and interferon signaling.
Haydeé Artaza, Divya Sri Priyanka Tallapragada, Janne Molnes…·Stefan Johansson
The paper identifies rare, large, high-penetrance CNVs in Norwegian pediatric diabetes and MODY patients, finding 0.63% and 0.09% of cases attributable to pathogenic deletions, with some undetected by standard methods.
Øyvind Helgeland, Marc Vaudel, Pol Solé-Navais…·Stefan Johansson
This study identifies 46 BMI loci in children aged 0-8 years, revealing age-specific effects and pathways linked to Mendelian obesity.