Area of research
Genetics
Research interest
Research interests include SDHB, SDHD, Paraganglioma, Biology, Penetrance, and Germline mutation.
Tumour risks and genotype–phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes <i>SDHB</i>, <i>SDHC</i> and <i>SDHD</i>
Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome
Clinical and Molecular Features of Renal and Pheochromocytoma/Paraganglioma Tumor Association Syndrome (RAPTAS): Case Series and Literature Review
Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency
Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis
Evaluation of <scp>SDHB</scp>,<scp> SDHD</scp> and <scp>VHL</scp> gene susceptibility testing in the assessment of individuals with non‐syndromic phaeochromocytoma, paraganglioma and head and neck paraganglioma
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