72.0
Jacques Puechberty
Hôpital Arnaud de Villeneuve
Jacques Puechberty's research has significantly advanced our understanding of chromosomal rearrangements and their impact on human development. Through studies on chromoanagenesis, the mechanisms of genomic chaos, and long-read sequencing strategies, they have shed light on the complexities of genetic architecture. Their work has also led to the identification of novel pathogenic mechanisms in Usher Syndrome Type 1 and provided insights into the genetics of rare disorders such as Phelan-McDermid Syndrome and Trapp-Collins Syndrome. Furthermore, their contributions to the development of non-invasive prenatal diagnosis (NIPD) protocols for conditions like cystic fibrosis have improved diagnostic capabilities for pregnant individuals and families affected by developmental disorders in France.