Area of research
Pediatrics, Perinatology and Child Health · General Health Professions
Research interest
Research interests include Child and Adolescent Health, Metabolism and Genetic Disorders, Neonatal Health and Biochemistry, and Birth, Development, and Health.
Towards Achieving Equity and Innovation in Newborn Screening across Europe
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients
Neonatal Screening in Europe Revisited: An ISNS Perspective on the Current State and Developments Since 2010
Recommendations for uniform definitions used in newborn screening for severe combined immunodeficiency
First Year of TREC-Based National SCID Screening in Sweden
Newborn Screening for Severe Primary Immunodeficiency Diseases in Sweden—a 2-Year Pilot TREC and KREC Screening Study
Rescue of primary ubiquinone deficiency due to a novel <i>COQ7</i> defect using 2,4–dihydroxybensoic acid
Rapid pulsed whole genome sequencing for comprehensive acute diagnostics of inborn errors of metabolism