Håkan Thonberg
Karolinska University Hospital(SE)Karolinska Institutet(SE)
Publications by Year
Research Areas
Genomics and Rare Diseases, Genetic factors in colorectal cancer, Alzheimer's disease research and treatments, Genomic variations and chromosomal abnormalities, Cancer Genomics and Diagnostics
Most-Cited Works
- → Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients(2021)259 cited
- → A comprehensive study of the genetic impact of rare variants in SORL1 in European early-onset Alzheimer’s disease(2016)115 cited
- → A novel pathway for adrenergic stimulation of cAMP-response-element-binding protein (CREB) phosphorylation: mediation via α1-adrenoceptors and protein kinase C activation(2002)99 cited
- → Expression profiling following local muscle inactivity in humans provides new perspective on diabetes-related genes(2005)80 cited
- → Human neuropeptide Y signal peptide gain-of-function polymorphism is associated with increased body mass index: possible mode of function(2004)79 cited
- → Identification and description of three families with familial Alzheimer disease that segregate variants in the SORL1 gene(2017)68 cited