Area of research
Endocrinology, Diabetes and Metabolism · Surgery
Research interest
Research interests include Medicine, Pheochromocytoma, SDHA, Paraganglioma, SDHB, and SDHD.
Genetic testing and surveillance guidelines in hereditary pheochromocytoma and paraganglioma
65 YEARS OF THE DOUBLE HELIX: Genetics informs precision practice in the diagnosis and management of pheochromocytoma
Preventive medicine of von Hippel–Lindau disease-associated pancreatic neuroendocrine tumors
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
Consensus Statement on next-generation-sequencing-based diagnostic testing of hereditary phaeochromocytomas and paragangliomas
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
Rare Germline Mutations Identified by Targeted Next-Generation Sequencing of Susceptibility Genes in Pheochromocytoma and Paraganglioma
Integrative genomics reveals frequent somatic NF1 mutations in sporadic pheochromocytomas