Leontine van Unen

Leontine van Unen is a researcher in the Clinical Genetics department at Erasmus MC, Faculty of Medicine. Her work focuses on improving genetic diagnostics through advanced molecular techniques and transcriptome analysis.

Her primary research interests include RNA splicing mechanisms, neurofibromatosis type 1, Legius syndrome, tuberous sclerosis complex (TSC), and variant classification methodologies. She has made significant contributions to understanding how RNA analysis can improve diagnostic yield when DNA testing appears normal.

Her recent publications demonstrate a strong trend toward developing more sensitive diagnostic approaches for neurodevelopmental disorders and genetic syndromes, with particular emphasis on transcriptome screening and functional assays to validate variant pathogenicity. Her work bridges basic molecular biology with clinical applications in genetic diagnostics.

Dr. van Unen has collaborated extensively with researchers across multiple institutions on projects related to genetic disorder diagnostics and variant interpretation. Her research has been cited multiple times, indicating significant impact in the field of clinical genetics.