Research groups
Johansson group
The group investigates how genetic variation contribute to disease using multiple approaches.
Main content
Group leader: Stefan Johansson
Our team investigates how genetic variation contribute to disease using approaches such as GWAS in large cohorts, genome and transcriptome sequencing in rare monogenic disorders, and in depth functional analyses in cell models and zebra fish.
Key expertise
- GWAS
- Triad
- RNA-seq
- Proteomics
- Pathway analysis
- Transcriptomics
- Metabolomics
- Methylation
We have access to several unique Norwegian and international health surveys and disease-specific registries and biobanks, including:
- Avon Longitudinal Study of Parent and Children (ALSPAC)
- The Norwegian MODY registry
- The Hordaland Healths Survey (HUSK)
- The Norwegian Registry for Organ Specific Autoimmune Diseases (ROAS)
- The Norwegian Mother, Father and Child birth cohort (MoBa)
- The Norwegian Childhood Diabetes Registry
Selected publications
Early life growth genetics
- Genome-wide association study reveals dynamic role of genetic variation in infant and early childhood growth
- Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors
- A trans-ancestral meta-analysis of genome-wide association studies reveals loci associated with childhood obesity
Clinical and molecular genetics
- Population prevalence and inheritance pattern of recurrent CNVs associated with neurodevelopmental disorders in 12,252 newborns and their parents
- Chip Protein U-Box Domain Truncation Affects Purkinje Neuron Morphology and Leads to Behavioral Changes in Zebrafish
Methods development
- SeeCiTe: a method to assess CNV calls from SNP arrays using trio data
- Comprehensive characterization of copy number variation (CNV) called from array, long- and short-read data
Endocrine disorders
Recent dissertations
- Parental and Environmental Effects in the Genetics of Neurodevelopmental Disorders and Related Traits
- Computational methods for DNA Copy Number Variation Analysis
- Dysfunction of the protein quality control system in neurodegeneration: A study of the co-chaperone and ubiquitin ligase CHIP in vitro and in zebrafish
Professor Stefan Johansson, group leader.
Photo:
Eivind Senneset
Related persons
28.03.2022