Laurent Pasquier

This study surveys 3,000 French individuals to assess their knowledge and misconceptions about medical genetics, revealing limited understanding and significant gaps in awareness of genetic testing limitations and legal frameworks.

The paper identifies TUBB4B mutations causing distinct ciliopathic diseases by affecting microtubule dynamics and cilia formation in humans and mice.

The paper reclassifies DYRK1A variants using an integrative approach, showing some previously reported pathogenic variants do not cause obvious phenotypes.

This study identifies novel HPE genes and oligogenic inheritance patterns in holoprosencephaly by integrating clinical data with exome sequencing and gene prioritization.