Area of research
Genetics · Surgery
Research interest
Research interests include SDHA, Medicine, Pheochromocytoma, Paraganglioma, Gene, and SDHB.
Clinical Characterization of the Pheochromocytoma and Paraganglioma Susceptibility Genes <i>SDHA</i>, <i>TMEM127</i>, <i>MAX</i>, and <i>SDHAF2</i> for Gene-Informed Prevention
Strong association between glucocerebrosidase mutations and Parkinson's disease in Sweden
Evolution of DNA repair defects during malignant progression of low-grade gliomas after temozolomide treatment
Whole‐exome sequencing defines the mutational landscape of pheochromocytoma and identifies <i><scp>KMT</scp>2<scp>D</scp></i> as a recurrently mutated gene
Nlrp3-inflammasome activation in non-myeloid-derived cells aggravates diabetic nephropathy
Rare Germline Mutations Identified by Targeted Next-Generation Sequencing of Susceptibility Genes in Pheochromocytoma and Paraganglioma
MDM2 promotor polymorphism and disease characteristics in chronic lymphocytic leukemia: results of an individual patient data-based meta-analysis
Integrative genomics reveals frequent somatic NF1 mutations in sporadic pheochromocytomas