Lies Hoefsloot

Lies Hoefsloot is a Researcher at Erasmus MC, Clinical Genetics, affiliated with Erasmus University Rotterdam. Her research focuses on genetic disorders, prenatal diagnosis, and exome sequencing applications. She has contributed significantly to studies involving inherited retinal dystrophies, non-syndromic hearing loss, and the diagnostic utility of exome sequencing in prenatal settings.

Her work includes collaborative projects on immune dysregulation linked to genetic variants and international cohort analyses of TMPRSS3-associated hearing loss. Her studies emphasize translating genetic findings into clinical diagnostics, particularly in fetal anomalies and pediatric genetic conditions. She has pioneered methods combining exome sequencing with targeted gene panels to enhance diagnostic yields in complex cases.

Lies Hoefsloot's research has been published in high-impact journals such as The Journal of Experimental Medicine and Human Genetics, reflecting her expertise in molecular genetics and clinical genomics.