Area of research
Genetics · Psychiatry and Mental health
Research interest
Research focused on Telomere and Immunology, with related work in Pathogenicity, Telomerase, Gene. Notable publications include 'Inherited bone marrow failure associated with germline mutation of ACD, the gene encoding telomere protein TPP1', 'RSAD2: A pathogenic interferon-stimulated gene at the maternal-fetal interface of patients with systemic lupus erythematosus', and 'Functional Characterization and Pathogenicity Classification of PRRT2 Splice Variants in PRRT2 ‐Related Disorders'.
RSAD2: A pathogenic interferon-stimulated gene at the maternal-fetal interface of patients with systemic lupus erythematosus
Functional Characterization and Pathogenicity Classification of <scp> <i>PRRT2</i> </scp> Splice Variants in <scp> <i>PRRT2</i> </scp> ‐Related Disorders
Inherited bone marrow failure associated with germline mutation of ACD, the gene encoding telomere protein TPP1